Variant report

Variant	nsv885791
Chromosome Location	chr6:34483015-34546560
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1799)
CpG islands
(count:2503)
Chromatin interactive
region (count:169)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1799 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:34537168-34537342	K562	blood:	n/a	n/a
2	ARID3A	chr6:34528321-34529035	K562	blood:	n/a	n/a
3	ARID3A	chr6:34495041-34495171	K562	blood:	n/a	n/a
4	ARID3A	chr6:34535143-34535361	HepG2	liver:	n/a	n/a
5	ARID3A	chr6:34530717-34531006	K562	blood:	n/a	n/a
6	ARID3A	chr6:34485472-34485719	K562	blood:	n/a	n/a
7	ARID3A	chr6:34528420-34528567	HepG2	liver:	n/a	n/a
8	ARID3A	chr6:34494652-34494762	K562	blood:	n/a	n/a
9	ARID3A	chr6:34494959-34495288	HepG2	liver:	n/a	n/a
10	ATF1	chr6:34528256-34528770	K562	blood:	n/a	n/a
11	ATF1	chr6:34498693-34498808	K562	blood:	n/a	n/a
12	ATF1	chr6:34530640-34531020	K562	blood:	n/a	n/a
13	ATF2	chr6:34494984-34495307	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF3	chr6:34485205-34485489	K562	blood:	n/a	n/a
15	BACH1	chr6:34494673-34494811	K562	blood:	n/a	n/a
16	BACH1	chr6:34528081-34528565	K562	blood:	n/a	n/a
17	BACH1	chr6:34525098-34525122	K562	blood:	n/a	n/a
18	BCL3	chr6:34522693-34523062	GM12878	blood:	n/a	n/a
19	BCL3	chr6:34522720-34523036	GM12878	blood:	n/a	n/a
20	BCL3	chr6:34543140-34543668	K562	blood:	n/a	chr6:34543350-34543359
21	BCL3	chr6:34541372-34541610	GM12878	blood:	n/a	n/a
22	BCLAF1	chr6:34494974-34495328	GM12878	blood:	n/a	n/a
23	BHLHE40	chr6:34494998-34495331	K562	blood:	n/a	n/a
24	BHLHE40	chr6:34512632-34512964	K562	blood:	n/a	n/a
25	BHLHE40	chr6:34535812-34536294	K562	blood:	n/a	n/a
26	BHLHE40	chr6:34527683-34529135	K562	blood:	n/a	n/a
27	BHLHE40	chr6:34498559-34498914	K562	blood:	n/a	n/a
28	BHLHE40	chr6:34495040-34495240	GM12878	blood:	n/a	n/a
29	BHLHE40	chr6:34526077-34526348	K562	blood:	n/a	n/a
30	BHLHE40	chr6:34530292-34531071	K562	blood:	n/a	n/a
31	BHLHE40	chr6:34531305-34531454	K562	blood:	n/a	n/a
32	BHLHE40	chr6:34525097-34525230	K562	blood:	n/a	n/a
33	BHLHE40	chr6:34528358-34529016	HepG2	liver:	n/a	n/a
34	BHLHE40	chr6:34535821-34536274	HepG2	liver:	n/a	n/a
35	BRCA1	chr6:34528656-34528787	HepG2	liver:	n/a	n/a
36	BRCA1	chr6:34495142-34495167	HepG2	liver:	n/a	n/a
37	BRCA1	chr6:34539475-34539630	HepG2	liver:	n/a	n/a
38	BRCA1	chr6:34495129-34495249	GM12878	blood:	n/a	n/a
39	BRCA1	chr6:34528383-34528433	HepG2	liver:	n/a	n/a
40	BRCA1	chr6:34534813-34534889	H1-hESC	embryonic stem cell:	n/a	n/a
41	CBX3	chr6:34525886-34526725	K562	blood:	n/a	n/a
42	CBX3	chr6:34486503-34486792	K562	blood:	n/a	n/a
43	CBX3	chr6:34494717-34495375	K562	blood:	n/a	n/a
44	CBX3	chr6:34529829-34530430	K562	blood:	n/a	n/a
45	CBX3	chr6:34528238-34529132	K562	blood:	n/a	n/a
46	CBX3	chr6:34486407-34486830	K562	blood:	n/a	n/a
47	CBX3	chr6:34498382-34499182	K562	blood:	n/a	n/a
48	CBX3	chr6:34504717-34505022	K562	blood:	n/a	n/a
49	CBX3	chr6:34525771-34526610	K562	blood:	n/a	n/a
50	CBX3	chr6:34524227-34524720	K562	blood:	n/a	n/a

(count:2503 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:34489552-34489602	HIPEpiC	eye:	n/a
2	chr6:34489552-34489602	Hepatocyte	liver:	n/a
3	chr6:34489552-34489602	HIPEpiC	eye:	n/a
4	chr6:34489552-34489602	Hepatocyte	liver:	n/a
5	chr6:34495054-34495104	U87	brain:	n/a
6	chr6:34499314-34499364	HepG2	liver:	n/a
7	chr6:34514887-34514937	Hepatocyte	liver:	n/a
8	chr6:34543055-34543105	GM19239	blood:	n/a
9	chr6:34511514-34511564	U87	brain:	n/a
10	chr6:34535602-34535652	SK-N-MC	brain:	n/a
11	chr6:34495393-34495443	NH-A	brain:	n/a
12	chr6:34505610-34505660	CMK	blood:	n/a
13	chr6:34524097-34524147	PrEC	prostate:	n/a
14	chr6:34524290-34524340	NHBE	bronchial:	n/a
15	chr6:34508820-34508870	GM12892	blood:	n/a
16	chr6:34512215-34512265	GM12891	blood:	n/a
17	chr6:34514887-34514937	AoSMC	blood vessel:	n/a
18	chr6:34513187-34513237	IMR90	lung:	fetal
19	chr6:34494976-34495026	AG09309	skin:	n/a
20	chr6:34528827-34528877	HRPEpiC	eye:	n/a
21	chr6:34499314-34499364	GM06990	blood:	n/a
22	chr6:34489623-34489673	K562	blood:	n/a
23	chr6:34486129-34486179	H1-hESC	embryonic stem cell:	embryo
24	chr6:34495308-34495358	IMR90	lung:	fetal
25	chr6:34514887-34514937	HRCEpiC	kidney:	n/a
26	chr6:34514887-34514937	Hela-S3	cervix:	n/a
27	chr6:34495393-34495443	SAEC	small airway:	n/a
28	chr6:34505610-34505660	PANC-1	pancreas:	n/a
29	chr6:34495393-34495443	GM12891	blood:	n/a
30	chr6:34494976-34495026	AG09319	gingival:	n/a
31	chr6:34525026-34525076	CMK	blood:	n/a
32	chr6:34523925-34523975	HL-60	blood:	n/a
33	chr6:34495054-34495104	Hepatocyte	liver:	n/a
34	chr6:34512215-34512265	HMEC	breast:	n/a
35	chr6:34498918-34498968	U87	brain:	n/a
36	chr6:34489623-34489673	NB4	blood:	n/a
37	chr6:34495054-34495104	RPTEC	kidney:	n/a
38	chr6:34524095-34524145	HAEpiC	amniotic membrane:	n/a
39	chr6:34524766-34524816	NHDF-neo	bronchial:	n/a
40	chr6:34486129-34486179	AG09319	gingival:	n/a
41	chr6:34511514-34511564	AG10803	skin:	n/a
42	chr6:34493129-34493179	ECC-1	luminal epithelium:	n/a
43	chr6:34511514-34511564	H1-hESC	embryonic stem cell:	embryo
44	chr6:34512083-34512133	LNCaP	prostate:	n/a
45	chr6:34512215-34512265	NH-A	brain:	n/a
46	chr6:34524766-34524816	AG09319	gingival:	n/a
47	chr6:34501193-34501243	NH-A	brain:	n/a
48	chr6:34495393-34495443	HNPCEpiC	eye:	n/a
49	chr6:34486129-34486179	LNCaP	prostate:	n/a
50	chr6:34495124-34495174	AG04450	lung:	fetal

(count:169 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr6:34532465..34535112-chr6:34540040..34542974,2	K562	blood:
2	chr6:34514809..34519137-chr6:34522826..34525341,4	K562	blood:
3	chr6:34494831..34497738-chr6:34508657..34510396,2	MCF-7	breast:
4	chr6:34496932..34498060-chr6:34528153..34529212,4	MCF-7	breast:
5	chr6:34496704..34498115-chr6:34576145..34578099,12	MCF-7	breast:
6	chr6:34524749..34526335-chr6:34530684..34532317,2	K562	blood:
7	chr6:34494545..34497462-chr6:34498275..34503019,6	MCF-7	breast:
8	chr6:34527602..34533050-chr6:34533572..34539589,8	K562	blood:
9	chr6:34204520..34207436-chr6:34522666..34524361,2	K562	blood:
10	chr6:34528981..34530580-chr6:34530582..34532257,2	MCF-7	breast:
11	chr6:34509583..34511363-chr6:34518250..34520010,2	K562	blood:
12	chr6:34494680..34495634-chr6:34577124..34578035,2	MCF-7	breast:
13	chr6:34265209..34267014-chr6:34530646..34533613,2	K562	blood:
14	chr6:34511760..34514306-chr6:34515453..34517552,2	K562	blood:
15	chr6:34494038..34495878-chr6:34511727..34514586,2	K562	blood:
16	chr6:34528906..34533005-chr6:34533870..34536568,4	MCF-7	breast:
17	chr6:34536153..34538160-chr6:34545936..34548526,2	MCF-7	breast:
18	chr6:34490944..34493717-chr6:34499736..34502529,2	K562	blood:
19	chr6:34498308..34501187-chr6:34577541..34579069,2	MCF-7	breast:
20	chr6:34501160..34503078-chr6:34510332..34511859,2	K562	blood:
21	chr6:34391920..34394016-chr6:34508628..34510815,2	MCF-7	breast:
22	chr6:34392363..34395361-chr6:34495918..34498856,2	K562	blood:
23	chr6:34131307..34131807-chr6:34494733..34495454,2	K562	blood:
24	chr6:34535124..34538612-chr6:34540257..34541806,3	K562	blood:
25	chr6:34529337..34532289-chr6:34533729..34536883,4	K562	blood:
26	chr6:34506980..34511719-chr6:34518115..34520438,4	K562	blood:
27	chr6:34193853..34195785-chr6:34492922..34495154,2	K562	blood:
28	chr6:34514736..34516500-chr6:34519380..34521095,2	K562	blood:
29	chr6:34528409..34535112-chr6:34539790..34543716,10	K562	blood:
30	chr6:34535538..34537048-chr6:34550660..34552218,2	K562	blood:
31	chr6:34480102..34483166-chr6:34493351..34495807,3	MCF-7	breast:
32	chr6:34483206..34485571-chr6:34540552..34542756,2	K562	blood:
33	chr6:34536153..34538160-chr6:34545936..34548526,2	MCF-7	breast:
34	chr6:34502654..34506400-chr6:34510960..34515406,9	MCF-7	breast:
35	chr20:52484501..52486317-chr6:34526583..34529198,2	MCF-7	breast:
36	chr6:34514736..34516500-chr6:34519380..34521095,2	K562	blood:
37	chr6:34494545..34497462-chr6:34498275..34503019,6	MCF-7	breast:
38	chr6:34511760..34514306-chr6:34515453..34517552,2	K562	blood:
39	chr6:34522438..34524089-chr6:34549801..34552822,3	MCF-7	breast:
40	chr6:34505107..34506692-chr6:34515801..34518168,2	MCF-7	breast:
41	chr6:34493240..34495795-chr6:34548549..34550240,2	K562	blood:
42	chr6:34525385..34526922-chr6:34526989..34528671,2	K562	blood:
43	chr6:32936553..32938765-chr6:34521756..34523748,2	MCF-7	breast:
44	chr6:34508152..34511012-chr6:34535080..34537020,2	K562	blood:
45	chr6:34503128..34505845-chr6:34536309..34539232,2	K562	blood:
46	chr6:34514003..34515621-chr6:34528599..34531450,2	K562	blood:
47	chr6:34481114..34483145-chr6:34525090..34526631,2	K562	blood:
48	chr6:34497355..34498033-chr6:34557195..34557723,2	MCF-7	breast:
49	chr6:34529351..34531637-chr6:34540105..34542943,4	K562	blood:
50	chr6:34521648..34524118-chr6:34538318..34540666,2	MCF-7	breast:

No data

Variant related genes	Relation type
SPDEF	TF binding region
ENSG00000196114	TF binding region
SPDEF	CpG island
ENSG00000196114	CpG island
ENSG00000204256	chromatin interactions
ENSG00000270800	chromatin interactions
ENSG00000204257	chromatin interactions
ENSG00000186577	chromatin interactions
ENSG00000137309	chromatin interactions
ENSG00000223837	chromatin interactions
ENSG00000124507	chromatin interactions
ENSG00000196114	chromatin interactions
ENSG00000124664	chromatin interactions
ENSG00000124614	chromatin interactions
ENSG00000221635	chromatin interactions

Extended variants
information (count: 2718 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:2718 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4713808	chr6:34483015-34483016	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs4713809	chr6:34483053-34483054	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140916092	chr6:34483058-34483059	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149272365	chr6:34483123-34483124	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531027351	chr6:34483125-34483126	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552402205	chr6:34483151-34483152	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570781205	chr6:34483174-34483175	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11760070	chr6:34483190-34483191	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547281263	chr6:34483202-34483203	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs73746667	chr6:34483243-34483244	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs115915888	chr6:34483257-34483258	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs3800468	chr6:34483259-34483260	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs542261153	chr6:34483293-34483294	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs569390385	chr6:34483320-34483321	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs79743675	chr6:34483402-34483403	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs375231139	chr6:34483416-34483417	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs572769996	chr6:34483417-34483418	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs75097540	chr6:34483435-34483436	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs575870485	chr6:34483448-34483449	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs189798629	chr6:34483460-34483461	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs554976141	chr6:34483477-34483478	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs73746668	chr6:34483498-34483499	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs544800220	chr6:34483525-34483526	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs139302381	chr6:34483526-34483527	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs12216422	chr6:34483532-34483533	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs143316602	chr6:34483553-34483554	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs546252987	chr6:34483566-34483567	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs564439218	chr6:34483576-34483577	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs372375646	chr6:34483593-34483594	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs546997678	chr6:34483604-34483605	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs542078825	chr6:34483608-34483609	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs369298537	chr6:34483655-34483656	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs76458888	chr6:34483749-34483750	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs557262844	chr6:34483759-34483760	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs529601306	chr6:34483760-34483761	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs551303899	chr6:34483763-34483764	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs147099358	chr6:34483765-34483766	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs539663734	chr6:34483774-34483775	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs557799107	chr6:34483793-34483794	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs368537612	chr6:34483804-34483805	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs75461116	chr6:34483818-34483819	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs187028897	chr6:34483862-34483863	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs138467747	chr6:34483874-34483875	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs372185157	chr6:34483899-34483900	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs80231488	chr6:34483906-34483907	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs376078250	chr6:34483911-34483912	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs556207058	chr6:34483913-34483914	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs375430608	chr6:34483927-34483928	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs577732185	chr6:34483977-34483978	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs544863417	chr6:34483980-34483981	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
Acute myeloid leukemia	20729466	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
Esophageal adenocarcinoma	18820669	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
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Systemic lupus erythematosus	19279649	CNVD
Retinoblastoma	16790693	CNVD
Acute myocardial infarction	18032375	CNVD
Renal cell carcinoma	19150565	CNVD
Systemic lupus erythematosus	19591781	CNVD
Attention deficit hyperactivity disorder	19287146	CNVD
Autism	19287146	CNVD
Erythema nodosum in leprosy	19287146	CNVD
Henoch-schoenlein purpura	19287146	CNVD
Liver cirrhosis	19287146	CNVD
Systemic lupus erythematosus	19287146	CNVD
Autoimmune disease	19135723	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	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
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1326 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34441400-34494000	Weak transcription	Right Atrium	heart
2	chr6:34479000-34485200	Enhancers	Fetal Brain Male	brain
3	chr6:34482200-34483200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr6:34482200-34483200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr6:34482200-34483200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:34482200-34483200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:34482200-34483400	Active TSS	H9 Cell Line	embryonic stem cell
8	chr6:34482200-34484400	Active TSS	Brain Cingulate Gyrus	brain
9	chr6:34482200-34484400	Flanking Active TSS	Brain Germinal Matrix	brain
10	chr6:34482400-34483200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:34482400-34483200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr6:34482400-34483200	Enhancers	Gastric	stomach
13	chr6:34482400-34483200	Enhancers	Ovary	ovary
14	chr6:34482400-34483400	Enhancers	Brain Substantia Nigra	brain
15	chr6:34482400-34484000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr6:34482400-34485000	Active TSS	Brain Anterior Caudate	brain
17	chr6:34482600-34483200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
18	chr6:34482600-34483200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr6:34482600-34483200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:34482600-34483200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr6:34482600-34483200	Enhancers	Fetal Lung	lung
22	chr6:34482600-34483400	Bivalent Enhancer	Fetal Muscle Leg	muscle
23	chr6:34482800-34483200	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr6:34482800-34483200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
25	chr6:34482800-34483200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr6:34482800-34483200	Bivalent Enhancer	Fetal Intestine Large	intestine
27	chr6:34482800-34483200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
28	chr6:34482800-34483400	Flanking Active TSS	Fetal Brain Female	brain
29	chr6:34482800-34483400	Enhancers	Placenta Amnion	Placenta Amnion
30	chr6:34482800-34483600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr6:34482800-34483800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr6:34483000-34483200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
33	chr6:34483000-34483200	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr6:34483000-34483200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
35	chr6:34483000-34483200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
36	chr6:34483000-34483200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
37	chr6:34483000-34483200	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr6:34483000-34483200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
39	chr6:34483000-34483200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
40	chr6:34483000-34483200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
41	chr6:34483000-34483200	Enhancers	K562	blood
42	chr6:34483000-34483400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:34483000-34483400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr6:34483000-34483400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
45	chr6:34483000-34483400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
46	chr6:34483000-34483600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr6:34483000-34483600	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr6:34483000-34483600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
49	chr6:34483000-34484000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
50	chr6:34483000-34484200	Active TSS	Brain Angular Gyrus	brain

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