Variant report

Variant	nsv965699
Chromosome Location	chr6:27831604-27833574
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:426)
CpG islands
(count:978)
Chromatin interactive
region (count:34)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:426 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:27832818-27833018	HepG2	liver:	n/a	n/a
2	ATF1	chr6:27832767-27833171	K562	blood:	n/a	n/a
3	ATF2	chr6:27832592-27834006	GM12878	blood:	n/a	n/a
4	ATF2	chr6:27832660-27835583	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr6:27832684-27835681	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr6:27832644-27835585	GM12878	blood:	n/a	n/a
7	BATF	chr6:27832809-27833502	GM12878	blood:	n/a	chr6:27832939-27832952
8	BCLAF1	chr6:27832617-27835511	GM12878	blood:	n/a	chr6:27833102-27833111 chr6:27835447-27835456
9	BCLAF1	chr6:27831843-27832478	GM12878	blood:	n/a	n/a
10	BCLAF1	chr6:27832962-27835486	K562	blood:	n/a	chr6:27833102-27833111 chr6:27835447-27835456
11	BCLAF1	chr6:27832852-27835555	K562	blood:	n/a	chr6:27833102-27833111 chr6:27835447-27835456
12	BCLAF1	chr6:27831818-27832455	GM12878	blood:	n/a	n/a
13	BCLAF1	chr6:27832498-27835604	GM12878	blood:	n/a	chr6:27833102-27833111 chr6:27835447-27835456
14	BHLHE40	chr6:27833060-27833220	K562	blood:	n/a	n/a
15	BHLHE40	chr6:27832779-27833225	GM12878	blood:	n/a	n/a
16	BRCA1	chr6:27832810-27833123	Hela-S3	cervix:	n/a	n/a
17	CBX3	chr6:27832751-27833693	K562	blood:	n/a	n/a
18	CEBPB	chr6:27832652-27835822	GM12878	blood:	n/a	chr6:27835599-27835610
19	CEBPB	chr6:27833016-27833274	GM12878	blood:	n/a	n/a
20	CEBPB	chr6:27832818-27833139	Hela-S3	cervix:	n/a	n/a
21	CEBPB	chr6:27832693-27833162	K562	blood:	n/a	n/a
22	CEBPB	chr6:27832685-27833133	IMR90	lung:	n/a	n/a
23	CEBPB	chr6:27832622-27833148	MCF-7	breast:	n/a	n/a
24	CEBPB	chr6:27832582-27833164	MCF-7	breast:	n/a	n/a
25	CEBPB	chr6:27832794-27833097	A549	lung:	n/a	n/a
26	CEBPB	chr6:27832791-27833127	HepG2	liver:	n/a	n/a
27	CEBPB	chr6:27832773-27833081	K562	blood:	n/a	n/a
28	CEBPD	chr6:27833466-27835530	K562	blood:	n/a	n/a
29	CEBPD	chr6:27832879-27833335	K562	blood:	n/a	n/a
30	CHD1	chr6:27833012-27835503	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD1	chr6:27832173-27835389	GM12878	blood:	n/a	n/a
32	CHD2	chr6:27832988-27833318	K562	blood:	n/a	n/a
33	CHD2	chr6:27832775-27835568	H1-hESC	embryonic stem cell:	n/a	n/a
34	CHD2	chr6:27832844-27833200	Hela-S3	cervix:	n/a	n/a
35	CHD2	chr6:27832940-27833183	HepG2	liver:	n/a	n/a
36	CHD2	chr6:27832809-27833243	GM12878	blood:	n/a	n/a
37	CREB1	chr6:27832141-27833300	GM12878	blood:	n/a	chr6:27832939-27832952
38	CREB1	chr6:27832825-27833118	A549	lung:	n/a	chr6:27832939-27832952
39	CREB1	chr6:27832471-27833296	H1-hESC	embryonic stem cell:	n/a	chr6:27832939-27832952
40	CREB1	chr6:27832957-27833285	A549	lung:	n/a	n/a
41	CREB1	chr6:27833360-27835594	H1-hESC	embryonic stem cell:	n/a	n/a
42	CREB1	chr6:27832563-27833291	GM12878	blood:	n/a	chr6:27832939-27832952
43	CREB1	chr6:27833361-27835634	GM12878	blood:	n/a	n/a
44	CREB1	chr6:27832682-27833296	HepG2	liver:	n/a	chr6:27832939-27832952
45	CREB1	chr6:27832700-27833333	H1-hESC	embryonic stem cell:	n/a	chr6:27832939-27832952
46	CREB1	chr6:27832645-27833241	K562	blood:	n/a	chr6:27832939-27832952
47	CREB1	chr6:27832757-27833216	K562	blood:	n/a	chr6:27832939-27832952
48	CREB1	chr6:27832596-27833288	HepG2	liver:	n/a	chr6:27832939-27832952
49	CTCF	chr6:27833320-27833470	GM12871	blood:	n/a	n/a
50	CTCF	chr6:27832060-27832210	GM12864	blood:	n/a	n/a

(count:978 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:27832945-27832995	HEEpiC	esophagus:	n/a
2	chr6:27833050-27833100	PFSK-1	brain:	n/a
3	chr6:27832945-27832995	HEEpiC	esophagus:	n/a
4	chr6:27833050-27833100	PFSK-1	brain:	n/a
5	chr6:27833270-27833320	SAEC	small airway:	n/a
6	chr6:27833095-27833145	NT2-D1	testis:	n/a
7	chr6:27833270-27833320	HEEpiC	esophagus:	n/a
8	chr6:27833050-27833100	HNPCEpiC	eye:	n/a
9	chr6:27832098-27832148	RPTEC	kidney:	n/a
10	chr6:27832956-27833006	BJ	skin:	n/a
11	chr6:27832945-27832995	SAEC	small airway:	n/a
12	chr6:27832932-27832982	GM06990	blood:	n/a
13	chr6:27833129-27833179	SK-N-SH	brain:	n/a
14	chr6:27833555-27833605	HPAEpiC	pulmonary alveolar:	n/a
15	chr6:27833555-27833605	PANC-1	pancreas:	n/a
16	chr6:27833555-27833605	GM06990	blood:	n/a
17	chr6:27833270-27833320	GM06990	blood:	n/a
18	chr6:27832869-27832919	NHDF-neo	bronchial:	n/a
19	chr6:27832992-27833042	HNPCEpiC	eye:	n/a
20	chr6:27832098-27832148	AoSMC	blood vessel:	n/a
21	chr6:27831894-27831944	T-47D	breast:	n/a
22	chr6:27833121-27833171	A549	lung:	n/a
23	chr6:27833050-27833100	HCM	heart:	n/a
24	chr6:27832728-27832778	HAEpiC	amniotic membrane:	n/a
25	chr6:27833121-27833171	SK-N-SH	brain:	n/a
26	chr6:27833121-27833171	GM12892	blood:	n/a
27	chr6:27833050-27833100	H1-hESC	embryonic stem cell:	embryo
28	chr6:27833129-27833179	Hela-S3	cervix:	n/a
29	chr6:27831894-27831944	SAEC	small airway:	n/a
30	chr6:27833402-27833452	SK-N-SH_RA	brain:	n/a
31	chr6:27832945-27832995	HIPEpiC	eye:	n/a
32	chr6:27833129-27833179	Caco-2	colon:	n/a
33	chr6:27832728-27832778	SK-N-SH_RA	brain:	n/a
34	chr6:27832956-27833006	SKMC	muscle:	n/a
35	chr6:27832932-27832982	RPTEC	kidney:	n/a
36	chr6:27831894-27831944	U87	brain:	n/a
37	chr6:27832956-27833006	HPAEpiC	pulmonary alveolar:	n/a
38	chr6:27833121-27833171	HCT-116	colon:	n/a
39	chr6:27833555-27833605	HCT-116	colon:	n/a
40	chr6:27833095-27833145	U87	brain:	n/a
41	chr6:27833050-27833100	HIPEpiC	eye:	n/a
42	chr6:27833095-27833145	HRCEpiC	kidney:	n/a
43	chr6:27833095-27833145	AG04450	lung:	fetal
44	chr6:27833402-27833452	LNCaP	prostate:	n/a
45	chr6:27832945-27832995	U87	brain:	n/a
46	chr6:27833121-27833171	K562	blood:	n/a
47	chr6:27831894-27831944	AG10803	skin:	n/a
48	chr6:27833129-27833179	U87	brain:	n/a
49	chr6:27832098-27832148	HRCEpiC	kidney:	n/a
50	chr6:27832869-27832919	A549	lung:	n/a

(count:34 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:26215814..26218576-chr6:27831262..27835058,4	K562	blood:
2	chr6:25178946..25181215-chr6:27833164..27835187,2	MCF-7	breast:
3	chr17:56707936..56710461-chr6:27831380..27834313,2	MCF-7	breast:
4	chr6:27113081..27116777-chr6:27832860..27836046,4	K562	blood:
5	chr6:27113591..27118417-chr6:27832860..27835856,7	K562	blood:
6	chr6:27831507..27834483-chr6:28890233..28891763,2	MCF-7	breast:
7	chr6:26054611..26058222-chr6:27833185..27835454,4	MCF-7	breast:
8	chr6:27105570..27109142-chr6:27832678..27836176,3	K562	blood:
9	chr6:27832024..27834412-chr6:44214386..44216392,2	MCF-7	breast:
10	chr6:26156108..26158898-chr6:27832756..27836611,3	MCF-7	breast:
11	chr6:27829699..27832078-chr8:101028376..101031173,2	MCF-7	breast:
12	chr6:26171577..26173697-chr6:27830155..27831800,2	MCF-7	breast:
13	chr6:27099703..27101842-chr6:27833223..27835195,2	K562	blood:
14	chr6:27115160..27117823-chr6:27831838..27833565,2	MCF-7	breast:
15	chr6:27832725..27834714-chr6:27923810..27926804,2	K562	blood:
16	chr6:27832401..27835225-chr6:159419818..159422166,2	MCF-7	breast:
17	chr6:26033712..26035752-chr6:27832969..27835289,2	MCF-7	breast:
18	chr6:27831862..27832453-chr6:27860944..27861525,2	HCT-116	colon:
19	chr6:27100613..27102138-chr6:27831418..27834082,2	K562	blood:
20	chr6:27113113..27117592-chr6:27831181..27837403,7	MCF-7	breast:
21	chr6:26154866..26157028-chr6:27832028..27836151,3	MCF-7	breast:
22	chr15:65596974..65597639-chr6:27833574..27834169,2	Hela-S3	cervix:
23	chr6:27832219..27835088-chr6:28302807..28305055,2	K562	blood:
24	chr6:27833103..27835859-chr6:28582647..28584529,2	K562	blood:
25	chr6:27100626..27101224-chr6:27832642..27833254,3	Hela-S3	cervix:
26	chr6:26245717..26248418-chr6:27832882..27834698,2	MCF-7	breast:
27	chr6:27098113..27100606-chr6:27830587..27832158,2	K562	blood:
28	chr6:27832606..27835088-chr6:28302807..28304572,2	K562	blood:
29	chr1:11967132..11968839-chr6:27832941..27835901,2	MCF-7	breast:
30	chr6:26216342..26218938-chr6:27833572..27835102,2	MCF-7	breast:
31	chr6:26271682..26274545-chr6:27832998..27834644,2	MCF-7	breast:
32	chr6:27119707..27122211-chr6:27833105..27834981,2	K562	blood:
33	chr5:1522304..1524292-chr6:27832968..27834616,2	MCF-7	breast:
34	chr6:26249129..26252003-chr6:27832611..27836378,6	MCF-7	breast:

No data

Variant related genes	Relation type
HIST1H2AL	TF binding region
HIST1H2BPS2	TF binding region
HIST1H2AL	CpG island
HIST1H2BPS2	CpG island
ENSG00000265565	chromatin interactions
ENSG00000187837	chromatin interactions
ENSG00000197903	chromatin interactions
ENSG00000168242	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000158373	chromatin interactions
ENSG00000256316	chromatin interactions
ENSG00000124635	chromatin interactions
ENSG00000196331	chromatin interactions
ENSG00000153395	chromatin interactions
ENSG00000235109	chromatin interactions
ENSG00000233224	chromatin interactions
ENSG00000197459	chromatin interactions
ENSG00000124657	chromatin interactions
ENSG00000137259	chromatin interactions
ENSG00000271913	chromatin interactions
ENSG00000130363	chromatin interactions
ENSG00000096384	chromatin interactions
ENSG00000204713	chromatin interactions
ENSG00000168274	chromatin interactions
ENSG00000184825	chromatin interactions
ENSG00000199347	chromatin interactions
ENSG00000196787	chromatin interactions
ENSG00000168298	chromatin interactions
ENSG00000187990	chromatin interactions
ENSG00000198339	chromatin interactions
ENSG00000218690	chromatin interactions
ENSG00000232040	chromatin interactions
ENSG00000124578	chromatin interactions
ENSG00000200156	chromatin interactions

Extended variants
information (count: 105 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565182156	chr6:27831687-27831688	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
2	rs182429839	chr6:27831707-27831708	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
3	rs73386632	chr6:27831708-27831709	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs550700221	chr6:27831744-27831745	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
5	rs140578400	chr6:27831750-27831751	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
6	rs369965134	chr6:27831789-27831790	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
7	rs149722572	chr6:27831818-27831819	Active TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
8	rs553525587	chr6:27831821-27831822	Active TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
9	rs573504888	chr6:27831866-27831867	Active TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
10	rs539323176	chr6:27831957-27831958	Active TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
11	rs367741756	chr6:27832066-27832067	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
12	rs145557354	chr6:27832072-27832073	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
13	rs148857642	chr6:27832073-27832074	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
14	rs142560673	chr6:27832096-27832097	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
15	rs532461962	chr6:27832099-27832100	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
16	rs574471506	chr6:27832113-27832114	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
17	rs539981979	chr6:27832125-27832126	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
18	rs559902696	chr6:27832239-27832240	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
19	rs187819762	chr6:27832243-27832244	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
20	rs547445903	chr6:27832260-27832261	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
21	rs370574401	chr6:27832267-27832268	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
22	rs11966045	chr6:27832269-27832270	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs531514293	chr6:27832271-27832272	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
24	rs550942113	chr6:27832284-27832285	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
25	rs146435830	chr6:27832298-27832299	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
26	rs192632676	chr6:27832339-27832340	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
27	rs150519143	chr6:27832342-27832343	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
28	rs184116681	chr6:27832365-27832366	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
29	rs548516817	chr6:27832369-27832370	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
30	rs566985122	chr6:27832451-27832452	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
31	rs12203665	chr6:27832476-27832477	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
32	rs543965480	chr6:27832515-27832516	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
33	rs145719546	chr6:27832539-27832540	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
34	rs539206988	chr6:27832559-27832560	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
35	rs140812631	chr6:27832606-27832607	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
36	rs374577120	chr6:27832640-27832641	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
37	rs569525411	chr6:27832651-27832652	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
38	rs368267623	chr6:27832713-27832714	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
39	rs2200870	chr6:27832718-27832719	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	18 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs144565617	chr6:27832753-27832754	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
41	rs112774966	chr6:27832759-27832760	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
42	rs537374272	chr6:27832771-27832772	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
43	rs138490791	chr6:27832779-27832780	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
44	rs558519020	chr6:27832793-27832794	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
45	rs372009167	chr6:27832802-27832803	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
46	rs527517477	chr6:27832832-27832833	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
47	rs553425495	chr6:27832837-27832838	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
48	rs530093881	chr6:27832838-27832839	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
49	rs377392166	chr6:27832849-27832850	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
50	rs576534740	chr6:27832859-27832860	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
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
Hodgkin''s lymphoma	17606441	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
Breast cancer	21364760	CNVD
Schizophrenia	19571809	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD

Chromatin state (count:338 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27808000-27831800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr6:27822800-27831800	Weak transcription	Primary B cells from peripheral blood	blood
3	chr6:27824000-27831800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:27829000-27831800	Weak transcription	Right Atrium	heart
5	chr6:27830000-27831800	Weak transcription	Dnd41	blood
6	chr6:27830200-27831800	Weak transcription	Primary B cells from cord blood	blood
7	chr6:27830400-27832200	Flanking Active TSS	GM12878-XiMat	blood
8	chr6:27830600-27831800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:27830600-27831800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr6:27830800-27831800	Weak transcription	NH-A	brain
11	chr6:27830800-27831800	Weak transcription	NHEK	skin
12	chr6:27830800-27832200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:27830800-27835800	Active TSS	K562	blood
14	chr6:27831000-27831800	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr6:27831000-27831800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr6:27831200-27831800	Active TSS	Fetal Thymus	thymus
17	chr6:27831200-27832800	Weak transcription	HepG2	liver
18	chr6:27831200-27835800	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr6:27831200-27835800	Active TSS	H9 Cell Line	embryonic stem cell
20	chr6:27831400-27831800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr6:27831400-27831800	Active TSS	Thymus	Thymus
22	chr6:27831400-27833000	Weak transcription	Hela-S3	cervix
23	chr6:27831400-27833800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
24	chr6:27831400-27834400	Active TSS	NHDF-Ad	bronchial
25	chr6:27831400-27835600	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr6:27831600-27831800	Enhancers	Primary T cells from cord blood	blood
27	chr6:27831600-27831800	Enhancers	Primary hematopoietic stem cells	blood
28	chr6:27831600-27831800	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr6:27831600-27831800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr6:27831600-27831800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr6:27831600-27831800	Bivalent Enhancer	Brain Germinal Matrix	brain
32	chr6:27831600-27831800	Active TSS	Duodenum Mucosa	Duodenum
33	chr6:27831600-27831800	Enhancers	Esophagus	oesophagus
34	chr6:27831600-27831800	Bivalent/Poised TSS	Fetal Brain Male	brain
35	chr6:27831600-27831800	Enhancers	Fetal Muscle Leg	muscle
36	chr6:27831600-27831800	Enhancers	Placenta	Placenta
37	chr6:27831600-27831800	Enhancers	Left Ventricle	heart
38	chr6:27831600-27831800	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr6:27831600-27831800	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr6:27831600-27831800	Enhancers	Rectal Smooth Muscle	rectum
41	chr6:27831600-27831800	Enhancers	HUVEC	blood vessel
42	chr6:27831600-27831800	Active TSS	NHLF	lung
43	chr6:27831600-27832000	Active TSS	Monocytes-CD14+_RO01746	blood
44	chr6:27831600-27832200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr6:27831600-27832200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr6:27831600-27832400	Enhancers	Stomach Mucosa	stomach
47	chr6:27831600-27832600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr6:27831600-27832800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr6:27831600-27833400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr6:27831600-27833400	Active TSS	Fetal Intestine Small	intestine

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