Variant report

Variant	esv3347288
Chromosome Location	chr6:44094599-44097147
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:637)
CpG islands
(count:366)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:637 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:44094416-44094705	K562	blood:	n/a	n/a
2	ARID3A	chr6:44095062-44095155	HepG2	liver:	n/a	n/a
3	ATF2	chr6:44094334-44094861	GM12878	blood:	n/a	n/a
4	ATF3	chr6:44095004-44095253	K562	blood:	n/a	n/a
5	BACH1	chr6:44094684-44095234	H1-hESC	embryonic stem cell:	n/a	n/a
6	BATF	chr6:44094419-44094779	GM12878	blood:	n/a	n/a
7	BCL3	chr6:44094909-44095272	GM12878	blood:	n/a	chr6:44095095-44095104
8	BHLHE40	chr6:44094576-44094816	K562	blood:	n/a	n/a
9	BHLHE40	chr6:44095945-44096223	K562	blood:	n/a	chr6:44095970-44095986
10	BHLHE40	chr6:44094355-44094807	GM12878	blood:	n/a	n/a
11	BHLHE40	chr6:44095075-44095180	GM12878	blood:	n/a	n/a
12	BHLHE40	chr6:44095140-44095222	K562	blood:	n/a	n/a
13	BHLHE40	chr6:44094671-44094845	HepG2	liver:	n/a	n/a
14	BRCA1	chr6:44094978-44095127	GM12878	blood:	n/a	n/a
15	BRCA1	chr6:44094423-44094792	HepG2	liver:	n/a	n/a
16	BRCA1	chr6:44095132-44095138	HepG2	liver:	n/a	n/a
17	CBX3	chr6:44094220-44094912	K562	blood:	n/a	n/a
18	CBX3	chr6:44096541-44096934	K562	blood:	n/a	n/a
19	CCNT2	chr6:44094448-44096117	K562	blood:	n/a	chr6:44095812-44095821 chr6:44094697-44094706 chr6:44095686-44095695 chr6:44095692-44095701 chr6:44095344-44095353 chr6:44095356-44095365 chr6:44095653-44095662 chr6:44095575-44095584 chr6:44095350-44095359
20	CCNT2	chr6:44096325-44096435	K562	blood:	n/a	chr6:44096383-44096392
21	CEBPB	chr6:44094494-44094817	K562	blood:	n/a	n/a
22	CEBPB	chr6:44094464-44094833	IMR90	lung:	n/a	n/a
23	CEBPD	chr6:44094978-44095216	HepG2	liver:	n/a	n/a
24	CEBPD	chr6:44094969-44095270	HepG2	liver:	n/a	n/a
25	CEBPD	chr6:44095352-44095632	HepG2	liver:	n/a	n/a
26	CHD1	chr6:44096008-44096051	H1-hESC	embryonic stem cell:	n/a	n/a
27	CHD1	chr6:44094288-44095216	GM12878	blood:	n/a	n/a
28	CHD2	chr6:44094965-44095474	K562	blood:	n/a	chr6:44095365-44095375
29	CHD2	chr6:44094431-44094787	GM12878	blood:	n/a	n/a
30	CHD2	chr6:44095047-44095273	HepG2	liver:	n/a	n/a
31	CHD2	chr6:44095011-44095563	GM12878	blood:	n/a	chr6:44095365-44095375
32	CHD2	chr6:44094491-44095666	Hela-S3	cervix:	n/a	chr6:44095365-44095375
33	CREB1	chr6:44095027-44095223	A549	lung:	n/a	n/a
34	CREB1	chr6:44095016-44095306	A549	lung:	n/a	n/a
35	CTCF	chr6:44096220-44096370	GM12871	blood:	n/a	n/a
36	CTCF	chr6:44096040-44096190	GM12873	blood:	n/a	n/a
37	CTCF	chr6:44096291-44096324	GM10266	blood:	n/a	n/a
38	CTCF	chr6:44096180-44096330	GM06990	blood:	n/a	n/a
39	CTCF	chr6:44095980-44096130	HUVEC	blood vessel:	n/a	n/a
40	CTCF	chr6:44096060-44096210	AG09309	skin:	n/a	n/a
41	CTCF	chr6:44096146-44096419	K562	blood:	n/a	n/a
42	CTCF	chr6:44095980-44096130	AoAF	blood vessel:	n/a	n/a
43	CTCF	chr6:44096060-44096210	K562	blood:	n/a	n/a
44	CTCF	chr6:44096247-44096349	Medullo	brain:	n/a	n/a
45	CTCF	chr6:44096020-44096170	GM12872	blood:	n/a	n/a
46	CTCF	chr6:44096284-44096377	NHEK	skin:	n/a	n/a
47	CTCF	chr6:44096283-44096369	MCF-7	breast:	n/a	n/a
48	CTCF	chr6:44096312-44096333	GM13977	blood:	n/a	n/a
49	CTCF	chr6:44096000-44096150	SAEC	small airway:	n/a	n/a
50	CTCF	chr6:44096060-44096210	HepG2	liver:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:44095108-44095158	HEEpiC	esophagus:	n/a
2	chr6:44095569-44095619	BJ	skin:	n/a
3	chr6:44095094-44095144	SK-N-SH_RA	brain:	n/a
4	chr6:44095108-44095158	HCT-116	colon:	n/a
5	chr6:44095094-44095144	A549	lung:	n/a
6	chr6:44096081-44096131	HCT-116	colon:	n/a
7	chr6:44095108-44095158	GM06990	blood:	n/a
8	chr6:44095108-44095158	AG09319	gingival:	n/a
9	chr6:44096081-44096131	HCM	heart:	n/a
10	chr6:44095569-44095619	GM12878	blood:	n/a
11	chr6:44095569-44095619	ovcar-3	ovarian:	n/a
12	chr6:44095108-44095158	BJ	skin:	n/a
13	chr6:44095108-44095158	HRE	kidney:	n/a
14	chr6:44096542-44096592	GM12891	blood:	n/a
15	chr6:44096081-44096131	HEK293	kidney:	embryo
16	chr6:44095569-44095619	ProgFib	skin:	n/a
17	chr6:44096542-44096592	HPAEpiC	pulmonary alveolar:	n/a
18	chr6:44096542-44096592	GM12892	blood:	n/a
19	chr6:44094852-44094902	HPAEpiC	pulmonary alveolar:	n/a
20	chr6:44094852-44094902	HRE	kidney:	n/a
21	chr6:44095108-44095158	HRPEpiC	eye:	n/a
22	chr6:44094852-44094902	H1-hESC	embryonic stem cell:	embryo
23	chr6:44096081-44096131	GM12891	blood:	n/a
24	chr6:44094852-44094902	IMR90	lung:	fetal
25	chr6:44094852-44094902	LNCaP	prostate:	n/a
26	chr6:44096542-44096592	Jurkat	blood:	n/a
27	chr6:44096542-44096592	H1-hESC	embryonic stem cell:	embryo
28	chr6:44096542-44096592	SK-N-SH_RA	brain:	n/a
29	chr6:44095094-44095144	GM06990	blood:	n/a
30	chr6:44096542-44096592	MCF-7	breast:	n/a
31	chr6:44095569-44095619	GM12891	blood:	n/a
32	chr6:44096542-44096592	ECC-1	luminal epithelium:	n/a
33	chr6:44095569-44095619	HEK293	kidney:	embryo
34	chr6:44096081-44096131	HRCEpiC	kidney:	n/a
35	chr6:44095569-44095619	NB4	blood:	n/a
36	chr6:44095569-44095619	PFSK-1	brain:	n/a
37	chr6:44096542-44096592	HMEC	breast:	n/a
38	chr6:44095569-44095619	K562	blood:	n/a
39	chr6:44094852-44094902	HAEpiC	amniotic membrane:	n/a
40	chr6:44095108-44095158	AG10803	skin:	n/a
41	chr6:44096542-44096592	NT2-D1	testis:	n/a
42	chr6:44096542-44096592	HRCEpiC	kidney:	n/a
43	chr6:44095094-44095144	K562	blood:	n/a
44	chr6:44096542-44096592	HEK293	kidney:	embryo
45	chr6:44094852-44094902	GM19239	blood:	n/a
46	chr6:44096081-44096131	HPAEpiC	pulmonary alveolar:	n/a
47	chr6:44094852-44094902	SK-N-SH	brain:	n/a
48	chr6:44096542-44096592	HUVEC	blood vessel:	n/a
49	chr6:44095569-44095619	PrEC	prostate:	n/a
50	chr6:44095094-44095144	CMK	blood:	n/a

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:43596367..43598855-chr6:44092530..44095404,4	K562	blood:
2	chr6:44093355..44100261-chr6:44212966..44217093,13	K562	blood:
3	chr6:44093370..44096253-chr6:44223564..44226835,7	K562	blood:
4	chr11:62608617..62609721-chr6:44094675..44095678,3	NB4	blood:
5	chr6:44092682..44101478-chr6:44189085..44198306,11	K562	blood:
6	chr6:44096398..44099100-chr6:44201010..44203822,2	K562	blood:
7	chr6:44094061..44096796-chr6:44223845..44226294,3	K562	blood:
8	chr6:44094044..44095024-chr7:99214204..99214912,2	Hela-S3	cervix:
9	chr6:44055370..44058215-chr6:44094927..44096529,2	K562	blood:
10	chr1:171750621..171751192-chr6:44094734..44095532,2	Hela-S3	cervix:
11	chr6:44094789..44096473-chr6:44279267..44282226,2	K562	blood:
12	chr6:44093355..44096767-chr6:44213001..44216421,7	K562	blood:
13	chr6:43740232..43742498-chr6:44094487..44097613,3	K562	blood:
14	chr6:44042031..44044413-chr6:44095279..44097168,2	K562	blood:
15	chr6:44093102..44095527-chr6:44231141..44233414,2	MCF-7	breast:
16	chr6:44094685..44097058-chr6:44213813..44216236,2	MCF-7	breast:
17	chr6:44093312..44099146-chr6:44212809..44220233,13	MCF-7	breast:
18	chr6:44055370..44058215-chr6:44094460..44096529,3	K562	blood:
19	chr6:44095576..44096087-chr6:44119284..44120059,2	MCF-7	breast:
20	chr6:44095005..44097134-chr6:44184170..44186416,2	K562	blood:
21	chr6:44092343..44095710-chr6:44231665..44234902,4	K562	blood:
22	chr6:44095603..44096130-chr6:44224891..44225616,2	K562	blood:
23	chr6:43595621..43598855-chr6:44092842..44097752,6	K562	blood:

No data

Variant related genes	Relation type
MRPL14	TF binding region
TMEM63B	TF binding region
MRPL14	CpG island
TMEM63B	CpG island
ENSG00000124688	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000157593	chromatin interactions
ENSG00000112715	chromatin interactions
ENSG00000262179	chromatin interactions
ENSG00000010165	chromatin interactions
ENSG00000146232	chromatin interactions
ENSG00000096384	chromatin interactions
ENSG00000112759	chromatin interactions
ENSG00000172432	chromatin interactions
ENSG00000237686	chromatin interactions
ENSG00000183239	chromatin interactions
ENSG00000197037	chromatin interactions
ENSG00000124608	chromatin interactions

Extended variants
information (count: 70 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577784967	chr6:44094616-44094617	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
2	rs545141691	chr6:44094626-44094627	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
3	rs563443806	chr6:44094633-44094634	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
4	rs376456280	chr6:44094690-44094691	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs115366175	chr6:44094719-44094720	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
6	rs560922893	chr6:44094726-44094727	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
7	rs528594237	chr6:44094745-44094746	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
8	rs546703009	chr6:44094772-44094773	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
9	rs565350296	chr6:44094788-44094789	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
10	rs532608904	chr6:44094799-44094800	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
11	rs551146630	chr6:44094829-44094830	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
12	rs569501117	chr6:44094860-44094861	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
13	rs536931889	chr6:44094885-44094886	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
14	rs200026840	chr6:44094890-44094891	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
15	rs558838580	chr6:44094905-44094906	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
16	rs72348651	chr6:44094906-44094907	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
17	rs577201769	chr6:44094924-44094925	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
18	rs544480967	chr6:44094925-44094926	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
19	rs530577848	chr6:44094952-44094953	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
20	rs549033859	chr6:44095013-44095014	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
21	rs567286221	chr6:44095088-44095089	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
22	rs111763940	chr6:44095094-44095095	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
23	rs534573147	chr6:44095149-44095150	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
24	rs577194297	chr6:44095181-44095182	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
25	rs77423333	chr6:44095280-44095281	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
26	rs571279240	chr6:44095327-44095328	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
27	rs538496760	chr6:44095343-44095344	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
28	rs112750340	chr6:44095542-44095543	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
29	rs557115366	chr6:44095545-44095546	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
30	rs575476892	chr6:44095690-44095691	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
31	rs542495859	chr6:44095877-44095878	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
32	rs554406674	chr6:44095904-44095905	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
33	rs113463098	chr6:44095934-44095935	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
34	rs572922317	chr6:44095969-44095970	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
35	rs2096199	chr6:44096014-44096015	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs34559567	chr6:44096079-44096080	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
37	rs565279684	chr6:44096125-44096126	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
38	rs191809164	chr6:44096141-44096142	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
39	rs12665180	chr6:44096158-44096159	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
40	rs544510576	chr6:44096200-44096201	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
41	rs372671208	chr6:44096211-44096212	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
42	rs542575987	chr6:44096264-44096265	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
43	rs530282691	chr6:44096278-44096279	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
44	rs140257203	chr6:44096281-44096282	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
45	rs71562794	chr6:44096282-44096283	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
46	rs567123705	chr6:44096450-44096451	Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
47	rs377469235	chr6:44096595-44096596	Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
48	rs546565317	chr6:44096687-44096688	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
49	rs149570648	chr6:44096722-44096723	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
50	rs369970470	chr6:44096724-44096725	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
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
lymphocytic leukemia	21291569	CNVD
Lung adenocarcinoma	17982442	CNVD

Chromatin state (count:496 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44093000-44094600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr6:44093200-44094600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:44093200-44096200	Active TSS	Lung	lung
4	chr6:44093400-44094600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:44093400-44094600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:44093400-44094600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:44093400-44094600	Flanking Active TSS	Dnd41	blood
8	chr6:44093400-44096200	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr6:44093600-44094600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr6:44093600-44094600	Flanking Active TSS	Liver	Liver
11	chr6:44093600-44094600	Flanking Active TSS	Brain Anterior Caudate	brain
12	chr6:44093600-44094600	Flanking Active TSS	Brain Hippocampus Middle	brain
13	chr6:44093600-44094600	Flanking Active TSS	Colon Smooth Muscle	Colon
14	chr6:44093600-44094600	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr6:44093600-44094600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
16	chr6:44093600-44094600	Flanking Active TSS	HUVEC	blood vessel
17	chr6:44093600-44094600	Flanking Active TSS	NH-A	brain
18	chr6:44093600-44094800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr6:44093600-44094800	Flanking Active TSS	Fetal Thymus	thymus
20	chr6:44093800-44094600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
21	chr6:44093800-44094600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
22	chr6:44093800-44094600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr6:44093800-44094600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
24	chr6:44093800-44094600	Flanking Active TSS	Brain Angular Gyrus	brain
25	chr6:44093800-44094600	Flanking Active TSS	Brain Cingulate Gyrus	brain
26	chr6:44093800-44094600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
27	chr6:44093800-44094600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
28	chr6:44093800-44094600	Flanking Active TSS	Fetal Brain Female	brain
29	chr6:44093800-44094600	Flanking Active TSS	Fetal Heart	heart
30	chr6:44093800-44094800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
31	chr6:44093800-44094800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
32	chr6:44093800-44095800	Active TSS	Fetal Muscle Trunk	muscle
33	chr6:44093800-44096000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr6:44093800-44096400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr6:44093800-44096400	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr6:44094000-44094600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:44094000-44094600	Flanking Active TSS	Primary B cells from cord blood	blood
38	chr6:44094000-44094600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr6:44094000-44094600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
40	chr6:44094000-44094600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr6:44094000-44094600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr6:44094000-44094600	Flanking Active TSS	Adipose Nuclei	Adipose
43	chr6:44094000-44094600	Flanking Active TSS	Brain Substantia Nigra	brain
44	chr6:44094000-44094600	Flanking Active TSS	Thymus	Thymus
45	chr6:44094000-44094800	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr6:44094000-44094800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
47	chr6:44094000-44094800	Active TSS	Right Atrium	heart
48	chr6:44094000-44095200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr6:44094000-44096000	Active TSS	Ovary	ovary
50	chr6:44094000-44096200	Active TSS	Esophagus	oesophagus

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