Variant report

Variant	nsv970091
Chromosome Location	chr6:27114028-27115549
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:836)
CpG islands
(count:552)
Chromatin interactive
region (count:236)
LncRNA
region (count:0)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:836 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:27114679-27115595	K562	blood:	n/a	chr6:27114835-27114843
2	ATF1	chr6:27114500-27115044	K562	blood:	n/a	n/a
3	ATF1	chr6:27113712-27114085	K562	blood:	n/a	n/a
4	ATF2	chr6:27113032-27115683	GM12878	blood:	n/a	chr6:27114727-27114738
5	ATF2	chr6:27114319-27115521	GM12878	blood:	n/a	chr6:27114727-27114738
6	ATF2	chr6:27112885-27114268	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr6:27114448-27115626	H1-hESC	embryonic stem cell:	n/a	chr6:27114727-27114738
8	ATF2	chr6:27113410-27114266	GM12878	blood:	n/a	n/a
9	ATF2	chr6:27114319-27116276	H1-hESC	embryonic stem cell:	n/a	chr6:27114727-27114738
10	ATF2	chr6:27113003-27114275	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF3	chr6:27114471-27115199	K562	blood:	n/a	chr6:27114727-27114738 chr6:27114726-27114739 chr6:27114729-27114736 chr6:27114725-27114736 chr6:27114729-27114739 chr6:27114726-27114737 chr6:27114727-27114740 chr6:27114727-27114738 chr6:27114729-27114739 chr6:27114725-27114740 chr6:27114726-27114739 chr6:27114728-27114736 chr6:27114728-27114739
12	ATF3	chr6:27113462-27114250	A549	lung:	n/a	n/a
13	ATF3	chr6:27114444-27115145	A549	lung:	n/a	chr6:27114727-27114738 chr6:27114726-27114739 chr6:27114729-27114736 chr6:27114725-27114736 chr6:27114729-27114739 chr6:27114726-27114737 chr6:27114727-27114740 chr6:27114727-27114738 chr6:27114729-27114739 chr6:27114725-27114740 chr6:27114726-27114739 chr6:27114728-27114736 chr6:27114728-27114739
14	ATF3	chr6:27114490-27115675	A549	lung:	n/a	chr6:27114727-27114738 chr6:27114726-27114739 chr6:27114729-27114736 chr6:27114725-27114736 chr6:27114729-27114739 chr6:27114726-27114737 chr6:27114727-27114740 chr6:27114727-27114738 chr6:27114729-27114739 chr6:27114725-27114740 chr6:27114726-27114739 chr6:27114728-27114736 chr6:27114728-27114739
15	BACH1	chr6:27114610-27115169	K562	blood:	n/a	n/a
16	BACH1	chr6:27113118-27114137	K562	blood:	n/a	n/a
17	BATF	chr6:27114777-27115333	GM12878	blood:	n/a	n/a
18	BATF	chr6:27113559-27114759	GM12878	blood:	n/a	n/a
19	BATF	chr6:27114296-27114557	GM12878	blood:	n/a	n/a
20	BCL11A	chr6:27113597-27114689	GM12878	blood:	n/a	n/a
21	BCL11A	chr6:27114115-27114637	GM12878	blood:	n/a	n/a
22	BCL3	chr6:27114336-27115706	A549	lung:	n/a	n/a
23	BCL3	chr6:27114329-27115531	A549	lung:	n/a	n/a
24	BCL3	chr6:27113135-27114291	K562	blood:	n/a	n/a
25	BCL3	chr6:27114412-27115216	K562	blood:	n/a	n/a
26	BCL3	chr6:27114660-27115105	K562	blood:	n/a	n/a
27	BCL3	chr6:27113196-27114271	A549	lung:	n/a	n/a
28	BCL3	chr6:27115218-27116111	K562	blood:	n/a	chr6:27116085-27116094
29	BCL3	chr6:27114804-27115287	GM12878	blood:	n/a	n/a
30	BCL3	chr6:27113404-27114276	A549	lung:	n/a	n/a
31	BCLAF1	chr6:27114319-27115714	GM12878	blood:	n/a	n/a
32	BCLAF1	chr6:27091775-27117112	K562	blood:	n/a	chr6:27098256-27098265 chr6:27096184-27096192 chr6:27116085-27116094
33	BCLAF1	chr6:27112957-27114249	GM12878	blood:	n/a	n/a
34	BCLAF1	chr6:27112926-27115741	GM12878	blood:	n/a	n/a
35	BCLAF1	chr6:27112261-27117279	K562	blood:	n/a	chr6:27116085-27116094
36	BHLHE40	chr6:27114492-27115123	K562	blood:	n/a	n/a
37	BHLHE40	chr6:27113467-27114214	K562	blood:	n/a	n/a
38	BHLHE40	chr6:27114639-27115109	HepG2	liver:	n/a	n/a
39	BHLHE40	chr6:27113652-27114058	A549	lung:	n/a	n/a
40	BHLHE40	chr6:27113028-27114112	GM12878	blood:	n/a	n/a
41	BHLHE40	chr6:27114509-27115521	GM12878	blood:	n/a	n/a
42	BRCA1	chr6:27114566-27115149	GM12878	blood:	n/a	n/a
43	BRCA1	chr6:27113504-27114171	Hela-S3	cervix:	n/a	n/a
44	BRCA1	chr6:27114548-27115401	Hela-S3	cervix:	n/a	n/a
45	BRCA1	chr6:27113296-27114076	GM12878	blood:	n/a	n/a
46	CBX3	chr6:27114280-27115404	K562	blood:	n/a	n/a
47	CBX3	chr6:27112933-27116168	K562	blood:	n/a	n/a
48	CCNT2	chr6:27114614-27115560	K562	blood:	n/a	n/a
49	CCNT2	chr6:27113557-27114192	K562	blood:	n/a	n/a
50	CEBPB	chr6:27115138-27115345	HepG2	liver:	n/a	chr6:27115229-27115240

(count:552 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:27114943-27114993	PrEC	prostate:	n/a
2	chr6:27114655-27114705	GM12878	blood:	n/a
3	chr6:27114864-27114914	HIPEpiC	eye:	n/a
4	chr6:27114943-27114993	PrEC	prostate:	n/a
5	chr6:27114655-27114705	GM12878	blood:	n/a
6	chr6:27114864-27114914	HIPEpiC	eye:	n/a
7	chr6:27114223-27114273	ECC-1	luminal epithelium:	n/a
8	chr6:27114586-27114636	U87	brain:	n/a
9	chr6:27114223-27114273	HEK293	kidney:	embryo
10	chr6:27114864-27114914	SKMC	muscle:	n/a
11	chr6:27114864-27114914	MCF10A-Er-Src	breast:	n/a
12	chr6:27114586-27114636	CMK	blood:	n/a
13	chr6:27114223-27114273	SAEC	small airway:	n/a
14	chr6:27114132-27114182	LNCaP	prostate:	n/a
15	chr6:27114223-27114273	SK-N-SH_RA	brain:	n/a
16	chr6:27114223-27114273	AG04450	lung:	fetal
17	chr6:27114132-27114182	HPAEpiC	pulmonary alveolar:	n/a
18	chr6:27114223-27114273	NHBE	bronchial:	n/a
19	chr6:27114586-27114636	HRCEpiC	kidney:	n/a
20	chr6:27114586-27114636	SK-N-SH_RA	brain:	n/a
21	chr6:27114943-27114993	HepG2	liver:	n/a
22	chr6:27114943-27114993	ECC-1	luminal epithelium:	n/a
23	chr6:27114943-27114993	ProgFib	skin:	n/a
24	chr6:27114132-27114182	RPTEC	kidney:	n/a
25	chr6:27114132-27114182	SK-N-SH	brain:	n/a
26	chr6:27114223-27114273	HMEC	breast:	n/a
27	chr6:27115249-27115299	HepG2	liver:	n/a
28	chr6:27115249-27115299	BJ	skin:	n/a
29	chr6:27114655-27114705	MCF-7	breast:	n/a
30	chr6:27115116-27115166	NHBE	bronchial:	n/a
31	chr6:27114586-27114636	IMR90	lung:	fetal
32	chr6:27114864-27114914	HCPEpiC	choroid plexus:	n/a
33	chr6:27115249-27115299	NB4	blood:	n/a
34	chr6:27115116-27115166	Caco-2	colon:	n/a
35	chr6:27114943-27114993	U87	brain:	n/a
36	chr6:27114959-27115009	NB4	blood:	n/a
37	chr6:27114943-27114993	RPTEC	kidney:	n/a
38	chr6:27114655-27114705	CMK	blood:	n/a
39	chr6:27115116-27115166	ProgFib	skin:	n/a
40	chr6:27114655-27114705	SKMC	muscle:	n/a
41	chr6:27114959-27115009	HepG2	liver:	n/a
42	chr6:27115249-27115299	NHDF-neo	bronchial:	n/a
43	chr6:27114223-27114273	NT2-D1	testis:	n/a
44	chr6:27114864-27114914	RPTEC	kidney:	n/a
45	chr6:27114655-27114705	PrEC	prostate:	n/a
46	chr6:27114864-27114914	HRE	kidney:	n/a
47	chr6:27114655-27114705	NHBE	bronchial:	n/a
48	chr6:27114132-27114182	AG10803	skin:	n/a
49	chr6:27114959-27115009	HCF	heart:	n/a
50	chr6:27114959-27115009	ProgFib	skin:	n/a

(count:236 , 50 per page) page: 1 2 3 4 5

No.	Distal block	Cell Line	Cell type
1	chr6:27112214..27114715-chr6:30582848..30585479,2	K562	blood:
2	chr6:27112544..27115290-chr6:28699620..28702018,2	K562	blood:
3	chr6:27114565..27115332-chr7:44836119..44836946,2	Hela-S3	cervix:
4	chr17:56707536..56710369-chr6:27113304..27117697,4	MCF-7	breast:
5	chr2:38977935..38978503-chr6:27114641..27115435,2	Hela-S3	cervix:
6	chr6:26030074..26034864-chr6:27112849..27118591,14	K562	blood:
7	chr6:26280754..26288136-chr6:27109918..27116629,16	MCF-7	breast:
8	chr1:145381347..145383315-chr6:27115404..27118202,2	K562	blood:
9	chr11:118965710..118966373-chr6:27114637..27115623,2	HCT-116	colon:
10	chr1:114355100..114355636-chr6:27114181..27114979,2	HCT-116	colon:
11	chr6:27114117..27114830-chr9:36400180..36400845,2	Hela-S3	cervix:
12	chr17:8339032..8339716-chr6:27114167..27114735,2	Hela-S3	cervix:
13	chr6:27112467..27114730-chr6:27804921..27806432,2	MCF-7	breast:
14	chr6:27111807..27118148-chr6:27215986..27222524,9	K562	blood:
15	chr12:62653458..62654238-chr6:27114619..27115294,2	Hela-S3	cervix:
16	chr6:27114501..27115321-chr6:27775840..27776467,3	Hela-S3	cervix:
17	chr6:27113934..27114724-chr9:128003104..128004119,3	Hela-S3	cervix:
18	chr6:27114514..27116900-chr9:110249066..110251372,2	MCF-7	breast:
19	chr11:47198019..47198588-chr6:27113497..27114449,2	Hela-S3	cervix:
20	chr6:26187666..26189518-chr6:27113172..27116022,2	K562	blood:
21	chr6:26103941..26105937-chr6:27113043..27115556,2	MCF-7	breast:
22	chr6:27111749..27120986-chr6:27774460..27781468,38	K562	blood:
23	chr12:46765221..46765889-chr6:27113866..27114658,2	Hela-S3	cervix:
24	chr6:27113242..27115485-chr6:28302941..28304550,2	K562	blood:
25	chr6:26020252..26023371-chr6:27112256..27114607,3	MCF-7	breast:
26	chr6:26121366..26126112-chr6:27111465..27116295,14	K562	blood:
27	chr17:48943894..48944583-chr6:27114321..27115236,3	Hela-S3	cervix:
28	chr17:8076447..8077206-chr6:27113752..27114468,2	Hela-S3	cervix:
29	chr11:66383834..66384620-chr6:27114157..27114868,2	Hela-S3	cervix:
30	chr6:27109893..27116877-chr6:27855936..27864238,12	MCF-7	breast:
31	chr6:26199481..26200204-chr6:27114324..27114900,2	NB4	blood:
32	chr6:27112179..27114678-chr6:32937632..32940152,2	K562	blood:
33	chr12:56510322..56511089-chr6:27114733..27115497,3	Hela-S3	cervix:
34	chr6:26197678..26199478-chr6:27113722..27116433,2	MCF-7	breast:
35	chr6:26215236..26220335-chr6:27112505..27117796,8	MCF-7	breast:
36	chr14:51134777..51135592-chr6:27114219..27115051,2	Hela-S3	cervix:
37	chr6:26537892..26540249-chr6:27112385..27115026,2	MCF-7	breast:
38	chr6:27114333..27114854-chr6:27861096..27861646,2	HCT-116	colon:
39	chr17:33905539..33906227-chr6:27114174..27114709,2	Hela-S3	cervix:
40	chr6:27114659..27115286-chr7:75544178..75544997,2	HCT-116	colon:
41	chr6:27115027..27116000-chr6:28048354..28049079,2	Hela-S3	cervix:
42	chr6:26026020..26027714-chr6:27113158..27114854,2	K562	blood:
43	chr6:27114149..27115130-chr6:90539640..90540146,2	Hela-S3	cervix:
44	chr6:27114767..27115443-chrX:102941460..102942167,2	Hela-S3	cervix:
45	chr6:26155235..26159457-chr6:27110736..27118010,14	K562	blood:
46	chr6:27114776..27115304-chr9:131939962..131940775,2	Hela-S3	cervix:
47	chr6:26593150..26599498-chr6:27112360..27118946,12	K562	blood:
48	chr6:27114521..27115350-chrX:23801251..23801835,2	HCT-116	colon:
49	chr6:26025218..26027872-chr6:27113164..27115614,4	MCF-7	breast:
50	chr21:46493602..46496021-chr6:27113430..27116414,2	K562	blood:

No data

miRNA name	Chromosome Location	mirBase accession
hsa-miR-3143	chr6:27115408-27115432	MIMAT0015012

No data

Variant related genes	Relation type
HIST1H2BK	TF binding region
HIST1H2AH	TF binding region
MIR3143	TF binding region
HIST1H2BK	CpG island
HIST1H2AH	CpG island
MIR3143	CpG island
ENSG00000125968	chromatin interactions
ENSG00000071054	chromatin interactions
ENSG00000182952	chromatin interactions
ENSG00000197459	chromatin interactions
ENSG00000185130	chromatin interactions
ENSG00000096654	chromatin interactions
ENSG00000203667	chromatin interactions
ENSG00000163435	chromatin interactions
ENSG00000096401	chromatin interactions
ENSG00000130751	chromatin interactions
ENSG00000243477	chromatin interactions
ENSG00000124216	chromatin interactions
ENSG00000197409	chromatin interactions
ENSG00000218690	chromatin interactions
ENSG00000272906	chromatin interactions
ENSG00000168615	chromatin interactions
ENSG00000123358	chromatin interactions
ENSG00000168274	chromatin interactions
ENSG00000151748	chromatin interactions
ENSG00000137309	chromatin interactions
ENSG00000167996	chromatin interactions
ENSG00000112983	chromatin interactions
ENSG00000216331	chromatin interactions
ENSG00000204387	chromatin interactions
ENSG00000184357	chromatin interactions
ENSG00000168242	chromatin interactions
ENSG00000184270	chromatin interactions
ENSG00000126790	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000108733	chromatin interactions
ENSG00000096872	chromatin interactions
ENSG00000116560	chromatin interactions
ENSG00000188987	chromatin interactions
ENSG00000119616	chromatin interactions
ENSG00000124693	chromatin interactions
ENSG00000198374	chromatin interactions
ENSG00000187266	chromatin interactions
ENSG00000238610	chromatin interactions
ENSG00000217128	chromatin interactions
ENSG00000272173	chromatin interactions
ENSG00000160753	chromatin interactions
ENSG00000234816	chromatin interactions
ENSG00000137259	chromatin interactions
ENSG00000105193	chromatin interactions
ENSG00000233224	chromatin interactions
ENSG00000125676	chromatin interactions
ENSG00000239705	chromatin interactions
ENSG00000176890	chromatin interactions
ENSG00000143933	chromatin interactions
ENSG00000196787	chromatin interactions
ENSG00000006327	chromatin interactions
ENSG00000124575	chromatin interactions
ENSG00000125954	chromatin interactions
ENSG00000167965	chromatin interactions
ENSG00000104611	chromatin interactions
ENSG00000203813	chromatin interactions
ENSG00000217862	chromatin interactions
ENSG00000269089	chromatin interactions
ENSG00000272462	chromatin interactions
ENSG00000134376	chromatin interactions
ENSG00000181019	chromatin interactions
ENSG00000180573	chromatin interactions
ENSG00000224843	chromatin interactions
ENSG00000238621	chromatin interactions
ENSG00000201823	chromatin interactions
ENSG00000270170	chromatin interactions
ENSG00000112812	chromatin interactions
ENSG00000113356	chromatin interactions
ENSG00000157557	chromatin interactions
ENSG00000197381	chromatin interactions
ENSG00000233016	chromatin interactions
ENSG00000118412	chromatin interactions
ENSG00000196374	chromatin interactions
ENSG00000121068	chromatin interactions
ENSG00000114503	chromatin interactions
ENSG00000168522	chromatin interactions
ENSG00000196235	chromatin interactions
ENSG00000143337	chromatin interactions
ENSG00000112511	chromatin interactions
ENSG00000196890	chromatin interactions
ENSG00000119682	chromatin interactions
ENSG00000103152	chromatin interactions
ENSG00000105771	chromatin interactions
ENSG00000272468	chromatin interactions
ENSG00000202408	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000123562	chromatin interactions
ENSG00000162783	chromatin interactions
ENSG00000197153	chromatin interactions
ENSG00000109381	chromatin interactions
ENSG00000115241	chromatin interactions
ENSG00000241370	chromatin interactions
ENSG00000152022	chromatin interactions
ENSG00000127948	chromatin interactions
ENSG00000273217	chromatin interactions
ENSG00000163191	chromatin interactions
ENSG00000204569	chromatin interactions
ENSG00000197846	chromatin interactions
ENSG00000184348	chromatin interactions
ENSG00000127952	chromatin interactions
ENSG00000044574	chromatin interactions
ENSG00000182611	chromatin interactions
ENSG00000197279	chromatin interactions
ENSG00000199004	chromatin interactions
ENSG00000188486	chromatin interactions
ENSG00000188483	chromatin interactions
ENSG00000223247	chromatin interactions
ENSG00000168298	chromatin interactions
ENSG00000186063	chromatin interactions
ENSG00000139832	chromatin interactions
ENSG00000263011	chromatin interactions
ENSG00000166881	chromatin interactions
ENSG00000223837	chromatin interactions
ENSG00000169895	chromatin interactions
ENSG00000101695	chromatin interactions
ENSG00000176055	chromatin interactions
ENSG00000146701	chromatin interactions
ENSG00000177971	chromatin interactions
ENSG00000158553	chromatin interactions
ENSG00000250220	chromatin interactions
ENSG00000116809	chromatin interactions
ENSG00000198673	chromatin interactions
ENSG00000197914	chromatin interactions
ENSG00000163393	chromatin interactions
ENSG00000256316	chromatin interactions
ENSG00000203724	chromatin interactions
ENSG00000117625	chromatin interactions
ENSG00000168137	chromatin interactions
ENSG00000178096	chromatin interactions
ENSG00000238923	chromatin interactions
ENSG00000139190	chromatin interactions
ENSG00000268032	chromatin interactions
ENSG00000256018	chromatin interactions
ENSG00000214670	chromatin interactions
ENSG00000201558	chromatin interactions
ENSG00000248643	chromatin interactions
ENSG00000124942	chromatin interactions
ENSG00000187837	chromatin interactions
ENSG00000196262	chromatin interactions
ENSG00000070047	chromatin interactions
ENSG00000234678	chromatin interactions
ENSG00000112984	chromatin interactions
ENSG00000208037	chromatin interactions
ENSG00000252958	chromatin interactions
ENSG00000142188	chromatin interactions
ENSG00000231128	chromatin interactions
ENSG00000196331	chromatin interactions
ENSG00000137055	chromatin interactions
ENSG00000131043	chromatin interactions
ENSG00000061273	chromatin interactions
ENSG00000132475	chromatin interactions
ENSG00000235954	chromatin interactions
ENSG00000135655	chromatin interactions
ENSG00000186792	chromatin interactions
ENSG00000217646	chromatin interactions
ENSG00000111678	chromatin interactions
ENSG00000196866	chromatin interactions
ENSG00000175634	chromatin interactions
ENSG00000200156	chromatin interactions
ENSG00000146963	chromatin interactions
ENSG00000196176	chromatin interactions
ENSG00000197061	chromatin interactions
ENSG00000187990	chromatin interactions
ENSG00000168495	chromatin interactions
ENSG00000229117	chromatin interactions
ENSG00000206573	chromatin interactions
ENSG00000143319	chromatin interactions
ENSG00000166579	chromatin interactions
ENSG00000197238	chromatin interactions
ENSG00000146109	chromatin interactions
ENSG00000257058	chromatin interactions
ENSG00000115875	chromatin interactions
ENSG00000143303	chromatin interactions
ENSG00000087191	chromatin interactions
ENSG00000085433	chromatin interactions
ENSG00000215417	chromatin interactions
ENSG00000222894	chromatin interactions
ENSG00000078124	chromatin interactions
ENSG00000263917	chromatin interactions
ENSG00000258289	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000158406	chromatin interactions
ENSG00000233822	chromatin interactions
ENSG00000184260	chromatin interactions
ENSG00000273391	chromatin interactions
ENSG00000149243	chromatin interactions
ENSG00000051108	chromatin interactions
ENSG00000262001	chromatin interactions
ENSG00000136826	chromatin interactions
ENSG00000198366	chromatin interactions
ENSG00000138757	chromatin interactions
ENSG00000204256	chromatin interactions
ENSG00000237425	chromatin interactions
ENSG00000163125	chromatin interactions
ENSG00000235374	chromatin interactions
ENSG00000123352	chromatin interactions
ENSG00000180596	chromatin interactions
ENSG00000265206	chromatin interactions
ENSG00000130066	chromatin interactions
ENSG00000265020	chromatin interactions
ENSG00000198327	chromatin interactions
ENSG00000180957	chromatin interactions
ENSG00000217275	chromatin interactions
ENSG00000181218	chromatin interactions
ENSG00000181704	chromatin interactions
ENSG00000162819	chromatin interactions
ENSG00000233396	chromatin interactions
ENSG00000198518	chromatin interactions
ENSG00000258096	chromatin interactions
ENSG00000181577	chromatin interactions
ENSG00000092108	chromatin interactions
ENSG00000235109	chromatin interactions
ENSG00000166012	chromatin interactions
ENSG00000156508	chromatin interactions
ENSG00000037042	chromatin interactions
ENSG00000124613	chromatin interactions
ENSG00000202444	chromatin interactions
ENSG00000158373	chromatin interactions
ENSG00000149182	chromatin interactions
ENSG00000078747	chromatin interactions
ENSG00000196532	chromatin interactions
ENSG00000272009	chromatin interactions
ENSG00000176912	chromatin interactions
ENSG00000112242	chromatin interactions
ENSG00000200463	chromatin interactions
ENSG00000124529	chromatin interactions
ENSG00000108592	chromatin interactions
ENSG00000215301	chromatin interactions
ENSG00000229980	chromatin interactions
ENSG00000150753	chromatin interactions
ENSG00000196747	chromatin interactions
ENSG00000101608	chromatin interactions
ENSG00000239306	chromatin interactions
ENSG00000142684	chromatin interactions
ENSG00000150991	chromatin interactions
ENSG00000137075	chromatin interactions
ENSG00000196352	chromatin interactions

Extended variants
information (count: 188 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:188 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189635978	chr6:27114033-27114034	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	111 gene(s)	Overlapped CNVs	n/a
2	rs182316858	chr6:27114038-27114039	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	111 gene(s)	Overlapped CNVs	n/a
3	rs9393790	chr6:27114052-27114053	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	108 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs561025600	chr6:27114057-27114058	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	108 gene(s)	Overlapped CNVs	n/a
5	rs530057382	chr6:27114070-27114071	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	108 gene(s)	Overlapped CNVs	n/a
6	rs546554001	chr6:27114087-27114088	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	108 gene(s)	Overlapped CNVs	n/a
7	rs569389881	chr6:27114091-27114092	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	108 gene(s)	Overlapped CNVs	n/a
8	rs559230714	chr6:27114092-27114093	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	108 gene(s)	Overlapped CNVs	n/a
9	rs528343118	chr6:27114125-27114126	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	110 gene(s)	Overlapped CNVs	n/a
10	rs187358353	chr6:27114127-27114128	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	110 gene(s)	Overlapped CNVs	n/a
11	rs35216950	chr6:27114134-27114135	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	110 gene(s)	Overlapped CNVs	n/a
12	rs143491879	chr6:27114136-27114137	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	110 gene(s)	Overlapped CNVs	n/a
13	rs536838527	chr6:27114140-27114141	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	110 gene(s)	Overlapped CNVs	n/a
14	rs546322798	chr6:27114164-27114165	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	114 gene(s)	Overlapped CNVs	n/a
15	rs550725747	chr6:27114189-27114190	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	123 gene(s)	Overlapped CNVs	n/a
16	rs373212385	chr6:27114190-27114191	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	123 gene(s)	Overlapped CNVs	n/a
17	rs200919564	chr6:27114192-27114193	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	123 gene(s)	Overlapped CNVs	n/a
18	rs201471590	chr6:27114195-27114196	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	123 gene(s)	Overlapped CNVs	n/a
19	rs139171375	chr6:27114205-27114206	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	124 gene(s)	Overlapped CNVs	n/a
20	rs567344687	chr6:27114208-27114209	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	124 gene(s)	Overlapped CNVs	n/a
21	rs149349762	chr6:27114212-27114213	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	124 gene(s)	Overlapped CNVs	n/a
22	rs201348978	chr6:27114244-27114245	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	125 gene(s)	Overlapped CNVs	n/a
23	rs144656204	chr6:27114254-27114255	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	126 gene(s)	Overlapped CNVs	n/a
24	rs377124176	chr6:27114263-27114264	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	129 gene(s)	Overlapped CNVs	n/a
25	rs148508555	chr6:27114266-27114267	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	129 gene(s)	Overlapped CNVs	n/a
26	rs370409746	chr6:27114272-27114273	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	129 gene(s)	Overlapped CNVs	n/a
27	rs141986533	chr6:27114284-27114285	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	130 gene(s)	Overlapped CNVs	n/a
28	rs150696455	chr6:27114305-27114306	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	129 gene(s)	Overlapped CNVs	n/a
29	rs1045614	chr6:27114351-27114352	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	135 gene(s)	Overlapped CNVs	n/a
30	rs183476782	chr6:27114353-27114354	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	135 gene(s)	Overlapped CNVs	n/a
31	rs191814346	chr6:27114368-27114369	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	137 gene(s)	Overlapped CNVs	n/a
32	rs188412684	chr6:27114374-27114375	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	137 gene(s)	Overlapped CNVs	n/a
33	rs374079896	chr6:27114380-27114381	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	137 gene(s)	Overlapped CNVs	n/a
34	rs140120697	chr6:27114383-27114384	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	137 gene(s)	Overlapped CNVs	n/a
35	rs143825978	chr6:27114386-27114387	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	137 gene(s)	Overlapped CNVs	n/a
36	rs200807929	chr6:27114410-27114411	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	141 gene(s)	Overlapped CNVs	n/a
37	rs190106120	chr6:27114416-27114417	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	143 gene(s)	Overlapped CNVs	n/a
38	rs202101103	chr6:27114425-27114426	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	143 gene(s)	Overlapped CNVs	n/a
39	rs201518697	chr6:27114435-27114436	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	144 gene(s)	Overlapped CNVs	n/a
40	rs574551754	chr6:27114449-27114450	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	144 gene(s)	Overlapped CNVs	n/a
41	rs566842066	chr6:27114452-27114453	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	143 gene(s)	Overlapped CNVs	n/a
42	rs146452208	chr6:27114454-27114455	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	143 gene(s)	Overlapped CNVs	n/a
43	rs139889230	chr6:27114458-27114459	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	143 gene(s)	Overlapped CNVs	n/a
44	rs149695889	chr6:27114461-27114462	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	143 gene(s)	Overlapped CNVs	n/a
45	rs534256683	chr6:27114464-27114465	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	143 gene(s)	Overlapped CNVs	n/a
46	rs532394349	chr6:27114471-27114472	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	142 gene(s)	Overlapped CNVs	n/a
47	rs554923771	chr6:27114472-27114473	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	142 gene(s)	Overlapped CNVs	n/a
48	rs367697564	chr6:27114474-27114475	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	142 gene(s)	Overlapped CNVs	n/a
49	rs370273004	chr6:27114476-27114477	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	142 gene(s)	Overlapped CNVs	n/a
50	rs565011233	chr6:27114478-27114479	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	144 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	19571809	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD

Chromatin state (count:218 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27111200-27114200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr6:27111200-27116000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr6:27111400-27116000	Active TSS	H9 Cell Line	embryonic stem cell
4	chr6:27111400-27116800	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr6:27111800-27116000	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr6:27112000-27115000	Active TSS	GM12878-XiMat	blood
7	chr6:27112000-27115800	Active TSS	Duodenum Mucosa	Duodenum
8	chr6:27112200-27114200	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr6:27112200-27115200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
10	chr6:27112200-27115800	Active TSS	Fetal Intestine Large	intestine
11	chr6:27112200-27116000	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr6:27112200-27116000	Active TSS	A549	lung
13	chr6:27112200-27116200	Active TSS	H1 Cell Line	embryonic stem cell
14	chr6:27112400-27114400	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr6:27112400-27115000	Active TSS	HMEC	breast
16	chr6:27112400-27115200	Active TSS	Fetal Thymus	thymus
17	chr6:27112400-27115600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr6:27112400-27115600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr6:27112400-27115800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr6:27112400-27115800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:27112400-27116000	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr6:27112400-27116000	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr6:27112400-27116000	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr6:27112400-27116000	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr6:27112400-27116200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr6:27112400-27116400	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr6:27112600-27115000	Active TSS	Muscle Satellite Cultured Cells	--
28	chr6:27112600-27115600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr6:27112600-27115600	Active TSS	Brain Angular Gyrus	brain
30	chr6:27112600-27115600	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr6:27112600-27115600	Active TSS	HSMM	muscle
32	chr6:27112600-27115600	Active TSS	NHLF	lung
33	chr6:27112600-27115800	Active TSS	Fetal Intestine Small	intestine
34	chr6:27112600-27115800	Active TSS	Fetal Kidney	kidney
35	chr6:27112800-27114800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr6:27112800-27115000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr6:27112800-27115000	Active TSS	Pancreas	Pancrea
38	chr6:27112800-27115200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr6:27112800-27115200	Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr6:27112800-27115400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr6:27112800-27115400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr6:27112800-27115600	Active TSS	Colonic Mucosa	Colon
43	chr6:27112800-27115600	Active TSS	Thymus	Thymus
44	chr6:27112800-27115600	Active TSS	NHDF-Ad	bronchial
45	chr6:27112800-27115800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr6:27112800-27115800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr6:27112800-27115800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr6:27112800-27115800	Active TSS	Fetal Stomach	stomach
49	chr6:27113000-27114200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
50	chr6:27113000-27114200	Flanking Active TSS	Adipose Nuclei	Adipose

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