Variant report

Variant	nsv885848
Chromosome Location	chr6:43732669-43753051
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2288)
CpG islands
(count:1344)
Chromatin interactive
region (count:118)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:35)

(count:2288 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:43737902-43738200	K562	blood:	n/a	n/a
2	ARID3A	chr6:43742605-43742630	HepG2	liver:	n/a	n/a
3	ARID3A	chr6:43739729-43739775	K562	blood:	n/a	n/a
4	ARID3A	chr6:43739199-43739200	HepG2	liver:	n/a	n/a
5	ARID3A	chr6:43737833-43738353	HepG2	liver:	n/a	n/a
6	ARID3A	chr6:43737183-43737573	HepG2	liver:	n/a	n/a
7	ATF2	chr6:43739468-43739763	GM12878	blood:	n/a	n/a
8	ATF2	chr6:43737248-43737728	GM12878	blood:	n/a	n/a
9	ATF2	chr6:43740916-43741283	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr6:43742412-43742866	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr6:43738956-43739263	GM12878	blood:	n/a	n/a
12	ATF2	chr6:43737800-43738108	GM12878	blood:	n/a	n/a
13	ATF3	chr6:43739545-43739931	K562	blood:	n/a	n/a
14	ATF3	chr6:43739567-43739864	K562	blood:	n/a	n/a
15	BACH1	chr6:43742493-43742848	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr6:43740263-43740525	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr6:43739094-43739273	K562	blood:	n/a	n/a
18	BACH1	chr6:43737269-43737858	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr6:43737304-43737671	K562	blood:	n/a	n/a
20	BACH1	chr6:43738110-43738310	K562	blood:	n/a	n/a
21	BACH1	chr6:43739844-43740189	K562	blood:	n/a	n/a
22	BACH1	chr6:43738639-43739579	H1-hESC	embryonic stem cell:	n/a	n/a
23	BCL3	chr6:43739075-43739451	GM12878	blood:	n/a	n/a
24	BCL3	chr6:43737711-43738069	GM12878	blood:	n/a	chr6:43737768-43737781
25	BCLAF1	chr6:43737624-43738156	GM12878	blood:	n/a	chr6:43737768-43737781
26	BCLAF1	chr6:43738791-43739513	GM12878	blood:	n/a	chr6:43739065-43739078 chr6:43739068-43739081
27	BCLAF1	chr6:43737166-43737796	GM12878	blood:	n/a	chr6:43737768-43737781
28	BCLAF1	chr6:43738933-43739405	GM12878	blood:	n/a	chr6:43739065-43739078 chr6:43739068-43739081
29	BCLAF1	chr6:43737199-43737555	GM12878	blood:	n/a	n/a
30	BHLHE40	chr6:43741111-43741322	HepG2	liver:	n/a	n/a
31	BHLHE40	chr6:43739085-43739460	GM12878	blood:	n/a	n/a
32	BHLHE40	chr6:43737243-43738554	K562	blood:	n/a	n/a
33	BHLHE40	chr6:43737191-43738025	HepG2	liver:	n/a	n/a
34	BHLHE40	chr6:43742546-43742839	GM12878	blood:	n/a	n/a
35	BHLHE40	chr6:43742517-43742809	K562	blood:	n/a	n/a
36	BHLHE40	chr6:43739318-43739363	K562	blood:	n/a	n/a
37	BHLHE40	chr6:43739704-43739887	K562	blood:	n/a	n/a
38	BHLHE40	chr6:43737221-43738474	GM12878	blood:	n/a	n/a
39	BHLHE40	chr6:43741105-43741287	K562	blood:	n/a	n/a
40	BRCA1	chr6:43737833-43738032	HepG2	liver:	n/a	n/a
41	BRCA1	chr6:43737255-43738666	Hela-S3	cervix:	n/a	n/a
42	BRCA1	chr6:43739715-43739915	Hela-S3	cervix:	n/a	n/a
43	BRCA1	chr6:43740539-43740668	HepG2	liver:	n/a	n/a
44	BRCA1	chr6:43742590-43742772	Hela-S3	cervix:	n/a	n/a
45	BRCA1	chr6:43739368-43739502	HepG2	liver:	n/a	n/a
46	BRCA1	chr6:43739873-43739877	GM12878	blood:	n/a	n/a
47	BRCA1	chr6:43740992-43741352	HepG2	liver:	n/a	n/a
48	BRCA1	chr6:43742561-43742761	GM12878	blood:	n/a	n/a
49	CBX3	chr6:43740866-43741547	K562	blood:	n/a	n/a
50	CBX3	chr6:43737203-43737596	K562	blood:	n/a	n/a

(count:1344 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:43744388-43744438	SAEC	small airway:	n/a
2	chr6:43734839-43734889	SKMC	muscle:	n/a
3	chr6:43744388-43744438	SAEC	small airway:	n/a
4	chr6:43734839-43734889	SKMC	muscle:	n/a
5	chr6:43736807-43736857	U87	brain:	n/a
6	chr6:43737555-43737605	BE2_C	brain:	n/a
7	chr6:43752522-43752572	ProgFib	skin:	n/a
8	chr6:43734839-43734889	NT2-D1	testis:	n/a
9	chr6:43734839-43734889	HRE	kidney:	n/a
10	chr6:43738977-43739027	LNCaP	prostate:	n/a
11	chr6:43737767-43737817	HepG2	liver:	n/a
12	chr6:43738006-43738056	GM19239	blood:	n/a
13	chr6:43752522-43752572	ovcar-3	ovarian:	n/a
14	chr6:43736807-43736857	A549	lung:	n/a
15	chr6:43737770-43737820	HL-60	blood:	n/a
16	chr6:43738026-43738076	GM19239	blood:	n/a
17	chr6:43738977-43739027	NH-A	brain:	n/a
18	chr6:43739819-43739869	RPTEC	kidney:	n/a
19	chr6:43737767-43737817	Hela-S3	cervix:	n/a
20	chr6:43738440-43738490	PrEC	prostate:	n/a
21	chr6:43737555-43737605	HUVEC	blood vessel:	n/a
22	chr6:43738977-43739027	MCF-7	breast:	n/a
23	chr6:43732881-43732931	U87	brain:	n/a
24	chr6:43738977-43739027	Hela-S3	cervix:	n/a
25	chr6:43737767-43737817	HL-60	blood:	n/a
26	chr6:43738026-43738076	ovcar-3	ovarian:	n/a
27	chr6:43738440-43738490	ECC-1	luminal epithelium:	n/a
28	chr6:43739059-43739109	Caco-2	colon:	n/a
29	chr6:43743181-43743231	AG09309	skin:	n/a
30	chr6:43743181-43743231	Jurkat	blood:	n/a
31	chr6:43738026-43738076	HRPEpiC	eye:	n/a
32	chr6:43741054-43741104	HRE	kidney:	n/a
33	chr6:43749477-43749527	AG09319	gingival:	n/a
34	chr6:43737767-43737817	U87	brain:	n/a
35	chr6:43738006-43738056	Hepatocyte	liver:	n/a
36	chr6:43737749-43737799	Jurkat	blood:	n/a
37	chr6:43732881-43732931	SK-N-SH_RA	brain:	n/a
38	chr6:43738440-43738490	HL-60	blood:	n/a
39	chr6:43732881-43732931	HCF	heart:	n/a
40	chr6:43738026-43738076	HepG2	liver:	n/a
41	chr6:43737555-43737605	HPAEpiC	pulmonary alveolar:	n/a
42	chr6:43752302-43752352	NT2-D1	testis:	n/a
43	chr6:43737749-43737799	NHDF-neo	bronchial:	n/a
44	chr6:43737767-43737817	HCPEpiC	choroid plexus:	n/a
45	chr6:43738026-43738076	A549	lung:	n/a
46	chr6:43752377-43752427	ovcar-3	ovarian:	n/a
47	chr6:43743181-43743231	PFSK-1	brain:	n/a
48	chr6:43737767-43737817	PANC-1	pancreas:	n/a
49	chr6:43738977-43739027	CMK	blood:	n/a
50	chr6:43738026-43738076	ECC-1	luminal epithelium:	n/a

(count:118 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr6:43745073..43748024-chr6:44039738..44042379,2	K562	blood:
2	chr3:135915262..135916150-chr6:43740983..43741663,2	Hela-S3	cervix:
3	chr6:43737638..43739422-chr7:75987482..75989449,2	MCF-7	breast:
4	chr6:43630657..43632531-chr6:43736089..43737840,2	MCF-7	breast:
5	chr6:43737113..43737853-chr6:44046588..44047524,3	MCF-7	breast:
6	chr6:43690346..43692325-chr6:43742986..43744888,2	K562	blood:
7	chr6:43685947..43686711-chr6:43735968..43736865,2	K562	blood:
8	chr6:43738064..43739006-chr8:80942016..80942619,2	Hela-S3	cervix:
9	chr6:43738039..43738759-chr8:145641815..145642530,2	Hela-S3	cervix:
10	chr6:43736876..43737835-chr6:44041901..44042940,8	K562	blood:
11	chr6:43742162..43743417-chr6:44046432..44047565,6	K562	blood:
12	chr6:43742231..43743744-chr6:43805695..43806498,4	MCF-7	breast:
13	chr6:43742390..43743171-chr6:44046723..44047462,3	MCF-7	breast:
14	chr6:43680256..43682936-chr6:43735367..43737905,2	K562	blood:
15	chr11:62432613..62433305-chr6:43738242..43738785,2	MCF-7	breast:
16	chr6:43740852..43742547-chr6:44215186..44217318,2	K562	blood:
17	chr6:27859614..27862396-chr6:43737260..43739331,2	K562	blood:
18	chr6:43730164..43744120-chr6:44034600..44052665,50	K562	blood:
19	chr10:98346732..98347248-chr6:43737424..43738013,2	NB4	blood:
20	chr6:43559031..43561366-chr6:43739811..43741812,2	K562	blood:
21	chr15:73075937..73076628-chr6:43738451..43738969,2	Hela-S3	cervix:
22	chr6:43601913..43603816-chr6:43737838..43740214,2	K562	blood:
23	chr6:43691365..43691912-chr6:43741124..43741939,2	K562	blood:
24	chr6:43737330..43737858-chr6:43784633..43785479,2	MCF-7	breast:
25	chr6:43594889..43598378-chr6:43738091..43741681,4	MCF-7	breast:
26	chr6:43736916..43737842-chr6:44043254..44044419,3	K562	blood:
27	chr6:43591688..43594576-chr6:43742532..43744832,2	K562	blood:
28	chr4:79696772..79697553-chr6:43737917..43738589,2	Hela-S3	cervix:
29	chr6:43750787..43752856-chr6:43778703..43781379,2	MCF-7	breast:
30	chr6:43737454..43738227-chrX:146992914..146993449,2	HCT-116	colon:
31	chr6:43700705..43714068-chr6:43733889..43742277,18	K562	blood:
32	chr6:43732418..43734383-chr6:44067605..44069368,2	K562	blood:
33	chr6:43742204..43743103-chr6:44041828..44042522,3	K562	blood:
34	chr6:43738049..43742352-chr6:44213795..44216744,7	K562	blood:
35	chr6:12008600..12009379-chr6:43737966..43738894,2	Hela-S3	cervix:
36	chr6:43737149..43737880-chr6:44040863..44041890,4	K562	blood:
37	chr20:60962198..60962719-chr6:43737546..43738450,2	NB4	blood:
38	chr5:32174331..32175012-chr6:43738085..43738944,2	Hela-S3	cervix:
39	chr6:43736949..43737612-chr6:43919103..43919705,2	MCF-7	breast:
40	chr6:43737972..43738858-chr7:27779375..27780262,2	Hela-S3	cervix:
41	chr1:11968539..11969133-chr6:43739068..43739696,2	Hela-S3	cervix:
42	chr6:43687850..43689441-chr6:43735928..43737777,2	MCF-7	breast:
43	chr6:43747799..43750516-chr6:44044753..44046879,2	K562	blood:
44	chr1:28969367..28970055-chr6:43739282..43739979,2	Hela-S3	cervix:
45	chr6:43735746..43737865-chr6:43933255..43934994,2	MCF-7	breast:
46	chr6:43742173..43742914-chr6:43785009..43785735,3	MCF-7	breast:
47	chr12:120729544..120730197-chr6:43737793..43738450,2	Hela-S3	cervix:
48	chr6:43630711..43632822-chr6:43742887..43744413,2	K562	blood:
49	chr6:43740232..43742498-chr6:44094487..44097613,3	K562	blood:
50	chr6:43692844..43694589-chr6:43732603..43735639,3	MCF-7	breast:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RSPH9-4	chr6:43746626-43746655	NONHSAT112919
2	lnc-RSPH9-4	chr6:43752278-43754176	NONHSAT112919
3	lnc-RSPH9-4	chr6:43749693-43749824	NONHSAT112920
4	lnc-RSPH9-4	chr6:43745457-43746273	NONHSAT112919
5	lnc-RSPH9-4	chr6:43746626-43746655	NONHSAT112920
6	lnc-RSPH9-3	chr6:43737962-43738756	NONHSAT112918
7	lnc-RSPH9-4	chr6:43752278-43752301	NONHSAT112920
8	lnc-RSPH9-4	chr6:43745909-43746273	NONHSAT112920

No data

(count:35 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	VEGFA	hsa-miR-125a-5p	chr6:43752324-43752330
2	VEGFA	hsa-miR-17-5p	chr6:43752476-43752482
3	VEGFA	hsa-miR-373-3p	chr6:43752475-43752481
4	VEGFA	hsa-miR-205-5p	chr6:43752437-43752456
5	VEGFA	hsa-miR-205-5p	chr6:43752449-43752456
6	VEGFA	hsa-miR-106a-5p	chr6:43752476-43752482
7	VEGFA	hsa-miR-9-5p	chr6:43746626-43746633
8	VEGFA	hsa-miR-93-5p	chr6:43752461-43752483
9	VEGFA	hsa-miR-15b-5p	chr6:43752575-43752582
10	VEGFA	hsa-miR-195-5p	chr6:43752563-43752582
11	VEGFA	hsa-miR-20a-5p	chr6:43752476-43752482
12	VEGFA	hsa-miR-106b-5p	chr6:43752476-43752482
13	VEGFA	hsa-miR-106a-5p	chr6:43752463-43752483
14	VEGFA	hsa-miR-195-5p	chr6:43752575-43752582
15	VEGFA	hsa-miR-16-5p	chr6:43752560-43752582
16	VEGFA	hsa-miR-372-3p	chr6:43752457-43752482
17	VEGFA	hsa-miR-150-5p	chr6:43752783-43752805
18	VEGFA	hsa-miR-373-3p	chr6:43752462-43752482
19	VEGFA	hsa-miR-107	chr6:43752559-43752581
20	VEGFA	hsa-miR-125a-5p	chr6:43752303-43752331
21	VEGFA	hsa-miR-15a-5p	chr6:43752575-43752582
22	VEGFA	hsa-miR-93-5p	chr6:43752476-43752482
23	VEGFA	hsa-miR-9-5p	chr6:43746260-43746273
24	VEGFA	hsa-miR-15a-5p	chr6:43752559-43752582
25	VEGFA	hsa-miR-17-5p	chr6:43752463-43752483
26	VEGFA	hsa-miR-20b-5p	chr6:43752476-43752482
27	VEGFA	hsa-miR-16-5p	chr6:43752575-43752582
28	VEGFA	hsa-miR-372-3p	chr6:43752475-43752481
29	VEGFA	hsa-miR-503-5p	chr6:43752576-43752582
30	VEGFA	hsa-miR-302d-3p	chr6:43752475-43752481
31	VEGFA	hsa-miR-503-5p	chr6:43752560-43752582
32	VEGFA	hsa-miR-15b-5p	chr6:43752561-43752582
33	VEGFA	hsa-miR-20b-5p	chr6:43752463-43752483
34	VEGFA	hsa-miR-20a-5p	chr6:43752463-43752483
35	VEGFA	hsa-miR-106b-5p	chr6:43752465-43752483

Variant related genes	Relation type
ENSG00000272114	TF binding region
VEGFA	TF binding region
ENSG00000272114	CpG island
VEGFA	CpG island
ENSG00000173209	chromatin interactions
ENSG00000174579	chromatin interactions
ENSG00000138756	chromatin interactions
ENSG00000272434	chromatin interactions
ENSG00000255432	chromatin interactions
ENSG00000170540	chromatin interactions
ENSG00000229893	chromatin interactions
ENSG00000123358	chromatin interactions
ENSG00000181577	chromatin interactions
ENSG00000178035	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000203362	chromatin interactions
ENSG00000197153	chromatin interactions
ENSG00000260278	chromatin interactions
ENSG00000096080	chromatin interactions
ENSG00000236961	chromatin interactions
ENSG00000120656	chromatin interactions
ENSG00000183239	chromatin interactions
ENSG00000124608	chromatin interactions
ENSG00000077147	chromatin interactions
ENSG00000137259	chromatin interactions
ENSG00000261071	chromatin interactions
ENSG00000231881	chromatin interactions
ENSG00000206597	chromatin interactions
ENSG00000135334	chromatin interactions
ENSG00000106052	chromatin interactions
ENSG00000071082	chromatin interactions
ENSG00000111445	chromatin interactions
ENSG00000107521	chromatin interactions
ENSG00000232112	chromatin interactions
ENSG00000268066	chromatin interactions
ENSG00000170734	chromatin interactions
ENSG00000115310	chromatin interactions
ENSG00000096384	chromatin interactions
ENSG00000095951	chromatin interactions
ENSG00000272086	chromatin interactions
ENSG00000137216	chromatin interactions
ENSG00000170027	chromatin interactions
ENSG00000233224	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000147804	chromatin interactions
ENSG00000214756	chromatin interactions
ENSG00000113384	chromatin interactions
ENSG00000152952	chromatin interactions
ENSG00000171858	chromatin interactions
ENSG00000159322	chromatin interactions
ENSG00000172432	chromatin interactions
ENSG00000164051	chromatin interactions
ENSG00000223469	chromatin interactions
ENSG00000147586	chromatin interactions
ENSG00000196331	chromatin interactions
ENSG00000229388	chromatin interactions
ENSG00000180992	chromatin interactions
ENSG00000124571	chromatin interactions
ENSG00000260342	chromatin interactions
ENSG00000162194	chromatin interactions
ENSG00000199377	chromatin interactions
ENSG00000223947	chromatin interactions
ENSG00000166579	chromatin interactions
ENSG00000233016	chromatin interactions
ENSG00000237686	chromatin interactions
ENSG00000124688	chromatin interactions

Extended variants
information (count: 841 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:841 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs699946	chr6:43732669-43732670	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs560059300	chr6:43732677-43732678	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs143345991	chr6:43732684-43732685	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs114109691	chr6:43732710-43732711	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs564051309	chr6:43732718-43732719	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs375413719	chr6:43732738-43732739	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs531592341	chr6:43732758-43732759	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs549788646	chr6:43732776-43732777	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs72547279	chr6:43732783-43732784	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs529332488	chr6:43732856-43732857	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs546619321	chr6:43732874-43732875	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs547890829	chr6:43732878-43732879	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs139380361	chr6:43732881-43732882	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs540032100	chr6:43732888-43732889	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs552092949	chr6:43732944-43732945	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs570410439	chr6:43732953-43732954	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs368724615	chr6:43732987-43732988	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs149617333	chr6:43732991-43732992	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs556230868	chr6:43733027-43733028	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs76380750	chr6:43733035-43733036	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs568063882	chr6:43733049-43733050	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs2148248	chr6:43733070-43733071	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs144261798	chr6:43733072-43733073	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs565623501	chr6:43733110-43733111	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs187924132	chr6:43733134-43733135	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs78345441	chr6:43733261-43733262	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs116084699	chr6:43733291-43733292	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs557606345	chr6:43733299-43733300	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs575963667	chr6:43733317-43733318	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs543325830	chr6:43733541-43733542	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs35099337	chr6:43733542-43733543	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs114681547	chr6:43733573-43733574	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs367812121	chr6:43733594-43733595	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs140085583	chr6:43733601-43733602	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs143570518	chr6:43733619-43733620	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs77998502	chr6:43733640-43733641	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs76450556	chr6:43733676-43733677	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs552033638	chr6:43733686-43733687	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs34193827	chr6:43733722-43733723	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs570348103	chr6:43733727-43733728	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs12662928	chr6:43733765-43733766	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs531197555	chr6:43733779-43733780	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs142240957	chr6:43733808-43733809	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs574295654	chr6:43733847-43733848	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs79470163	chr6:43733897-43733898	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs535444429	chr6:43733901-43733902	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs833059	chr6:43733902-43733903	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs192995552	chr6:43733905-43733906	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs539232532	chr6:43733915-43733916	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs557492389	chr6:43733922-43733923	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Osteosarcoma	16790693	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Ovarian cancer	21720365	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Colorectal cancer	16790693	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Systemic lupus erythematosus	19287148	CNVD
Colorectal cancer	19359472	CNVD
Multiple myeloma	16616336	CNVD
Chordoma	18071362	CNVD
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	21569311	CNVD
Cancer	20164920	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1296 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:43709000-43737000	Weak transcription	Right Atrium	heart
2	chr6:43722000-43737400	Weak transcription	Fetal Kidney	kidney
3	chr6:43725800-43733400	Enhancers	Fetal Lung	lung
4	chr6:43727200-43733800	Bivalent Enhancer	HepG2	liver
5	chr6:43727600-43737200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:43729200-43734600	Enhancers	Fetal Stomach	stomach
7	chr6:43729200-43737200	Weak transcription	Spleen	Spleen
8	chr6:43729800-43737400	Enhancers	Fetal Intestine Small	intestine
9	chr6:43730000-43737400	Enhancers	Fetal Intestine Large	intestine
10	chr6:43730800-43734000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr6:43731000-43733000	Enhancers	H1 Cell Line	embryonic stem cell
12	chr6:43731200-43733800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:43731400-43737400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr6:43731400-43737400	Enhancers	Stomach Mucosa	stomach
15	chr6:43731600-43733400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr6:43731600-43733800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr6:43731600-43735400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr6:43731800-43732800	Bivalent Enhancer	Fetal Muscle Leg	muscle
19	chr6:43731800-43733800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr6:43731800-43735800	Weak transcription	Ovary	ovary
21	chr6:43732000-43732800	Enhancers	Fetal Muscle Trunk	muscle
22	chr6:43732000-43735800	Weak transcription	Osteobl	bone
23	chr6:43732000-43737400	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr6:43732200-43732800	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr6:43732200-43732800	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr6:43732400-43732800	Bivalent Enhancer	Placenta	Placenta
27	chr6:43732400-43732800	Enhancers	Pancreas	Pancrea
28	chr6:43732400-43733000	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr6:43732400-43733000	Enhancers	Placenta Amnion	Placenta Amnion
30	chr6:43732400-43733200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:43732600-43732800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:43732600-43732800	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr6:43732600-43732800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr6:43732600-43732800	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr6:43732600-43733400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr6:43732600-43735200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr6:43732600-43735400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr6:43732600-43736600	Weak transcription	K562	blood
39	chr6:43732800-43733800	Weak transcription	Pancreas	Pancrea
40	chr6:43732800-43733800	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr6:43733000-43734200	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr6:43733000-43737200	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr6:43733200-43733600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr6:43733400-43733600	Enhancers	Fetal Muscle Trunk	muscle
45	chr6:43733400-43733600	Enhancers	Gastric	stomach
46	chr6:43733400-43733800	Bivalent Enhancer	Fetal Muscle Leg	muscle
47	chr6:43733400-43734200	Weak transcription	Fetal Lung	lung
48	chr6:43733400-43734200	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr6:43733400-43735800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr6:43733400-43737400	Enhancers	Duodenum Mucosa	Duodenum

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