Variant report

Variant	esv1839708
Chromosome Location	chr6:31465030-31474688
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:385)
CpG islands
(count:3788)
Chromatin interactive
region (count:26)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:385 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:31465722-31465982	K562	blood:	n/a	n/a
2	BACH1	chr6:31465477-31465659	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr6:31465368-31466094	GM12878	blood:	n/a	n/a
4	BHLHE40	chr6:31465570-31466076	K562	blood:	n/a	n/a
5	BHLHE40	chr6:31465586-31465724	A549	lung:	n/a	n/a
6	BHLHE40	chr6:31465521-31465739	HepG2	liver:	n/a	n/a
7	BRCA1	chr6:31465589-31465728	GM12878	blood:	n/a	n/a
8	CBX3	chr6:31465272-31466294	K562	blood:	n/a	n/a
9	CCNT2	chr6:31465489-31466233	K562	blood:	n/a	n/a
10	CEBPB	chr6:31470457-31470685	IMR90	lung:	n/a	n/a
11	CEBPB	chr6:31465739-31465801	HepG2	liver:	n/a	n/a
12	CEBPB	chr6:31470442-31470668	K562	blood:	n/a	n/a
13	CEBPB	chr6:31465333-31465907	Hela-S3	cervix:	n/a	n/a
14	CEBPB	chr6:31470447-31470707	Hela-S3	cervix:	n/a	n/a
15	CHD1	chr6:31465438-31465838	GM12878	blood:	n/a	n/a
16	CHD2	chr6:31465805-31465817	HepG2	liver:	n/a	n/a
17	CHD2	chr6:31465314-31466094	Hela-S3	cervix:	n/a	n/a
18	CHD2	chr6:31465514-31466002	GM12878	blood:	n/a	n/a
19	CHD2	chr6:31465670-31466002	K562	blood:	n/a	n/a
20	CHD2	chr6:31465740-31466093	H1-hESC	embryonic stem cell:	n/a	n/a
21	CREB1	chr6:31465591-31466234	A549	lung:	n/a	n/a
22	CTCF	chr6:31465660-31465810	HEEpiC	esophagus:	n/a	n/a
23	CTCF	chr6:31465660-31465810	BJ	skin:	n/a	n/a
24	CTCF	chr6:31465820-31465970	GM12873	blood:	n/a	n/a
25	CTCF	chr6:31465580-31465730	GM12866	blood:	n/a	n/a
26	CTCF	chr6:31465580-31465730	AoAF	blood vessel:	n/a	n/a
27	CTCF	chr6:31465600-31465750	HBMEC	blood vessel:	n/a	n/a
28	CTCF	chr6:31465660-31465810	MCF-7	breast:	n/a	n/a
29	CTCF	chr6:31465580-31465730	GM12864	blood:	n/a	n/a
30	CTCF	chr6:31465700-31465850	AG09319	gingival:	n/a	n/a
31	CTCF	chr6:31465300-31465450	AoAF	blood vessel:	n/a	n/a
32	CTCF	chr6:31465660-31465810	HCPEpiC	choroid plexus:	n/a	n/a
33	CTCF	chr6:31465740-31465890	BJ	skin:	n/a	n/a
34	CTCF	chr6:31465480-31465630	GM12874	blood:	n/a	n/a
35	CTCF	chr6:31465620-31465770	A549	lung:	n/a	n/a
36	CTCF	chr6:31465600-31465750	AG04449	skin:	n/a	n/a
37	CTCF	chr6:31465780-31465930	K562	blood:	n/a	n/a
38	CTCF	chr6:31465660-31465810	GM12868	blood:	n/a	n/a
39	CTCF	chr6:31465640-31465790	SAEC	small airway:	n/a	n/a
40	CTCF	chr6:31465740-31465890	K562	blood:	n/a	n/a
41	CTCF	chr6:31465020-31465170	GM06990	blood:	n/a	n/a
42	CTCF	chr6:31465720-31465870	HPF	lung:	n/a	n/a
43	CUX1	chr6:31465389-31465560	GM12878	blood:	n/a	n/a
44	CUX1	chr6:31465299-31465490	K562	blood:	n/a	n/a
45	E2F4	chr6:31465746-31465963	GM12878	blood:	n/a	chr6:31465823-31465832
46	E2F4	chr6:31465445-31466217	K562	blood:	n/a	chr6:31465823-31465832 chr6:31466066-31466075
47	E2F4	chr6:31465582-31465988	MCF10A-Er-Src	breast:	n/a	chr6:31465823-31465832
48	E2F6	chr6:31465324-31466320	H1-hESC	embryonic stem cell:	n/a	chr6:31465823-31465832 chr6:31466066-31466075
49	E2F6	chr6:31465693-31466135	K562	blood:	n/a	chr6:31465823-31465832 chr6:31466066-31466075
50	E2F6	chr6:31465391-31466156	H1-hESC	embryonic stem cell:	n/a	chr6:31465823-31465832 chr6:31466066-31466075

(count:3788 , 50 per page) page: 1 2 3 4 5 6 7 ... 76

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:31466798-31466848	SAEC	small airway:	n/a
2	chr6:31468622-31468672	IMR90	lung:	fetal
3	chr6:31464980-31465030	SK-N-MC	brain:	n/a
4	chr6:31465898-31465948	AG04449	skin:	fetal
5	chr6:31465685-31465735	A549	lung:	n/a
6	chr6:31474086-31474136	SK-N-SH	brain:	n/a
7	chr6:31466798-31466848	SAEC	small airway:	n/a
8	chr6:31468622-31468672	IMR90	lung:	fetal
9	chr6:31464980-31465030	SK-N-MC	brain:	n/a
10	chr6:31465898-31465948	AG04449	skin:	fetal
11	chr6:31465685-31465735	A549	lung:	n/a
12	chr6:31474086-31474136	SK-N-SH	brain:	n/a
13	chr6:31474171-31474221	T-47D	breast:	n/a
14	chr6:31465603-31465653	Hela-S3	cervix:	n/a
15	chr6:31468599-31468649	Caco-2	colon:	n/a
16	chr6:31474212-31474262	HCF	heart:	n/a
17	chr6:31465461-31465511	HEK293	kidney:	embryo
18	chr6:31465901-31465951	HRCEpiC	kidney:	n/a
19	chr6:31468571-31468621	Hepatocyte	liver:	n/a
20	chr6:31465461-31465511	PFSK-1	brain:	n/a
21	chr6:31474043-31474093	Caco-2	colon:	n/a
22	chr6:31474506-31474556	HMEC	breast:	n/a
23	chr6:31465710-31465760	BJ	skin:	n/a
24	chr6:31474185-31474235	AG09319	gingival:	n/a
25	chr6:31465961-31466011	PANC-1	pancreas:	n/a
26	chr6:31473264-31473314	HIPEpiC	eye:	n/a
27	chr6:31474279-31474329	HRE	kidney:	n/a
28	chr6:31474262-31474312	NT2-D1	testis:	n/a
29	chr6:31474212-31474262	GM06990	blood:	n/a
30	chr6:31468622-31468672	NT2-D1	testis:	n/a
31	chr6:31466821-31466871	HCF	heart:	n/a
32	chr6:31474137-31474187	SKMC	muscle:	n/a
33	chr6:31474185-31474235	HCPEpiC	choroid plexus:	n/a
34	chr6:31468571-31468621	IMR90	lung:	fetal
35	chr6:31465556-31465606	NB4	blood:	n/a
36	chr6:31465901-31465951	AG04450	lung:	fetal
37	chr6:31466003-31466053	NT2-D1	testis:	n/a
38	chr6:31466798-31466848	AG04450	lung:	fetal
39	chr6:31466821-31466871	GM12878	blood:	n/a
40	chr6:31465961-31466011	HCT-116	colon:	n/a
41	chr6:31466859-31466909	SK-N-MC	brain:	n/a
42	chr6:31465202-31465252	HIPEpiC	eye:	n/a
43	chr6:31465983-31466033	ECC-1	luminal epithelium:	n/a
44	chr6:31465685-31465735	HCPEpiC	choroid plexus:	n/a
45	chr6:31468957-31469007	NH-A	brain:	n/a
46	chr6:31474086-31474136	NHBE	bronchial:	n/a
47	chr6:31465202-31465252	HCPEpiC	choroid plexus:	n/a
48	chr6:31474185-31474235	PrEC	prostate:	n/a
49	chr6:31466003-31466053	SKMC	muscle:	n/a
50	chr6:31466119-31466169	MCF-7	breast:	n/a

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:31459710..31467567-chr6:31506191..31511027,18	MCF-7	breast:
2	chr6:31465865..31468194-chr6:31588116..31590521,2	K562	blood:
3	chr6:31463303..31465758-chr6:31589334..31591958,3	K562	blood:
4	chr6:29718134..29720156-chr6:31462731..31465532,2	MCF-7	breast:
5	chr6:31465192..31467276-chr6:31514353..31517870,3	K562	blood:
6	chr6:31465292..31466331-chr6:31508544..31510586,5	MCF-7	breast:
7	chr6:31371212..31373012-chr6:31465963..31468535,2	MCF-7	breast:
8	chr6:31460486..31468205-chr6:31503942..31512721,23	K562	blood:
9	chr6:31465772..31468196-chr6:31473322..31475577,2	K562	blood:
10	chr6:31371228..31373084-chr6:31465857..31468794,2	K562	blood:
11	chr6:31465772..31468196-chr6:31473322..31475577,2	K562	blood:
12	chr6:31469893..31472670-chr6:31507634..31510458,2	K562	blood:
13	chr6:31465872..31468233-chr6:31483089..31485980,2	K562	blood:
14	chr6:31459804..31465340-chr6:31474468..31477294,4	K562	blood:
15	chr6:31462628..31467072-chr6:31508179..31511597,8	MCF-7	breast:
16	chr6:31465504..31467038-chr6:31547558..31550219,2	K562	blood:
17	chr6:31463965..31465758-chr6:31589334..31591777,2	K562	blood:
18	chr6:31462191..31465976-chr6:31584426..31588689,4	K562	blood:
19	chr6:31465192..31467253-chr6:31513874..31515853,2	K562	blood:
20	chr6:31464396..31467286-chr6:31513352..31515783,2	MCF-7	breast:
21	chr6:31467244..31469846-chr6:31506676..31510061,3	MCF-7	breast:
22	chr6:31464473..31467635-chr6:31497399..31499705,3	K562	blood:
23	chr6:31458384..31468965-chr6:31503613..31512721,28	K562	blood:
24	chr6:31474674..31479009-chr6:31499969..31503821,5	K562	blood:
25	chr6:31471170..31473620-chr6:31507634..31510335,2	K562	blood:
26	chr6:31164763..31166450-chr6:31463766..31465501,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATP6V1G2-DDX39B-2	chr6:31473815-31474714	l_3166_chr6:31470088-31474400_lung
2	lnc-ATP6V1G2-DDX39B-2	chr6:31470089-31470973	l_3166_chr6:31470088-31474400_lung

No data

Variant related genes	Relation type
MICB	TF binding region
ENSG00000201680	TF binding region
MICB	CpG island
ENSG00000201680	CpG island
ENSG00000227507	chromatin interactions
ENSG00000235821	chromatin interactions
ENSG00000213760	chromatin interactions
ENSG00000256851	chromatin interactions
ENSG00000272501	chromatin interactions
ENSG00000199290	chromatin interactions
ENSG00000206344	chromatin interactions
ENSG00000201785	chromatin interactions
ENSG00000204498	chromatin interactions
ENSG00000200816	chromatin interactions
ENSG00000204469	chromatin interactions
ENSG00000204516	chromatin interactions
ENSG00000272236	chromatin interactions
ENSG00000234006	chromatin interactions
ENSG00000198563	chromatin interactions
ENSG00000265236	chromatin interactions
ENSG00000201680	chromatin interactions
ENSG00000204520	chromatin interactions
ENSG00000254870	chromatin interactions

Extended variants
information (count: 421 )
Associated
traits (count: 140 )

Variant overlapped rSNPs/rCNVs (count:421 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6922431	chr6:31465030-31465031	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs118129752	chr6:31465034-31465035	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
3	rs3094005	chr6:31465047-31465048	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs567591870	chr6:31465087-31465088	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
5	rs538118940	chr6:31465092-31465093	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
6	rs2534674	chr6:31465103-31465104	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs577958217	chr6:31465216-31465217	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
8	rs538979383	chr6:31465252-31465253	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
9	rs374606222	chr6:31465256-31465257	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
10	rs572471572	chr6:31465410-31465411	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
11	rs542835774	chr6:31465437-31465438	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
12	rs2534673	chr6:31465490-31465491	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs372274664	chr6:31465515-31465516	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
14	rs2534672	chr6:31465558-31465559	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs6915833	chr6:31465637-31465638	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs2534671	chr6:31465661-31465662	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs532799482	chr6:31465664-31465665	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
18	rs144823559	chr6:31465666-31465667	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
19	rs560011136	chr6:31465677-31465678	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
20	rs3828912	chr6:31465726-31465727	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs549231965	chr6:31465728-31465729	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
22	rs567457059	chr6:31465746-31465747	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
23	rs3828913	chr6:31465795-31465796	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
24	rs549813405	chr6:31465802-31465803	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
25	rs3828914	chr6:31465819-31465820	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs557397960	chr6:31465825-31465826	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
27	rs575758508	chr6:31465832-31465833	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
28	rs199578624	chr6:31465844-31465845	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
29	rs386699226	chr6:31465845-31465846	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
30	rs114861390	chr6:31465846-31465847	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
31	rs2516498	chr6:31465899-31465900	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs554783041	chr6:31465910-31465911	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
33	rs386699227	chr6:31465915-31465916	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
34	rs3828917	chr6:31465917-31465918	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs559001947	chr6:31465921-31465922	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
36	rs368417585	chr6:31465932-31465933	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
37	rs544705247	chr6:31465968-31465969	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
38	rs372984284	chr6:31465971-31465972	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
39	rs560076016	chr6:31466003-31466004	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
40	rs2534670	chr6:31466051-31466052	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs191912046	chr6:31466055-31466056	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
42	rs3828919	chr6:31466057-31466058	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs114766555	chr6:31466083-31466084	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
44	rs41293864	chr6:31466217-31466218	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs113068147	chr6:31466300-31466301	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
46	rs113331335	chr6:31466308-31466309	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
47	rs111639193	chr6:31466313-31466314	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
48	rs3093951	chr6:31466328-31466329	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
49	rs112024361	chr6:31466333-31466334	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
50	rs71563346	chr6:31466370-31466371	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:140)

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
Lung cancer	18438408	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
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
Ovarian cancer	21781307	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
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	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
Renal cell carcinoma	18765545	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
abnormal development	18461090	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	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
Breast cancer	21364760	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
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Cancer	20164919	CNVD
Schizophrenia	23813976	CNVD
Williams Syndrome	20824207	CNVD
Schizophrenia	21346763	CNVD
Nasopharyngeal cancer	20548289	CNVD
Nasopharyngeal cancer	20551993	CNVD
Type 2 diabetes	21526130	CNVD
Prostate cancer	22341455	CNVD
Medulloblastoma	21163964	CNVD

Chromatin state (count:663 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31459400-31466600	Active TSS	GM12878-XiMat	blood
2	chr6:31462800-31465400	Weak transcription	Gastric	stomach
3	chr6:31462800-31465400	Weak transcription	Ovary	ovary
4	chr6:31462800-31466800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr6:31463000-31465400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
6	chr6:31463200-31465200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr6:31463200-31465200	Weak transcription	Left Ventricle	heart
8	chr6:31463200-31465200	Enhancers	HSMM	muscle
9	chr6:31463200-31465400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:31463200-31465400	Weak transcription	Lung	lung
11	chr6:31463200-31465400	Enhancers	Spleen	Spleen
12	chr6:31463200-31465800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr6:31463200-31465800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr6:31463400-31465200	Weak transcription	HSMMtube	muscle
15	chr6:31463600-31465600	Weak transcription	Small Intestine	intestine
16	chr6:31464000-31465200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr6:31464400-31465400	Flanking Active TSS	Hela-S3	cervix
18	chr6:31464400-31465600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
19	chr6:31464400-31467600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr6:31464600-31465200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:31464600-31465200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:31464600-31465200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
23	chr6:31464600-31465200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
24	chr6:31464600-31465200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr6:31464600-31465200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
26	chr6:31464600-31465400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:31464600-31465400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr6:31464600-31465400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:31464600-31465400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:31464600-31465400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
31	chr6:31464600-31465400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr6:31464600-31465400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
33	chr6:31464600-31465600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
34	chr6:31464600-31465600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr6:31464600-31465600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr6:31464600-31465600	Flanking Active TSS	Duodenum Mucosa	Duodenum
37	chr6:31464600-31465800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr6:31464600-31466000	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
39	chr6:31464600-31466200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr6:31464600-31466400	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr6:31464600-31467400	Flanking Active TSS	Dnd41	blood
42	chr6:31464800-31465200	Enhancers	Aorta	Aorta
43	chr6:31464800-31465200	Enhancers	Liver	Liver
44	chr6:31464800-31465200	Bivalent Enhancer	Brain Anterior Caudate	brain
45	chr6:31464800-31465200	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
46	chr6:31464800-31465200	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
47	chr6:31464800-31465200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
48	chr6:31464800-31465200	Flanking Active TSS	NHDF-Ad	bronchial
49	chr6:31464800-31465400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr6:31464800-31465400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast

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