Variant report

Variant	esv3342647
Chromosome Location	chr6:34855999-34858847
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:851)
CpG islands
(count:856)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:851 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:34855719-34856923	K562	blood:	n/a	n/a
2	ARID3A	chr6:34856773-34857038	HepG2	liver:	n/a	n/a
3	ATF1	chr6:34856679-34857207	K562	blood:	n/a	n/a
4	ATF1	chr6:34855487-34856397	K562	blood:	n/a	chr6:34855838-34855852
5	ATF2	chr6:34856633-34857098	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr6:34855474-34856393	H1-hESC	embryonic stem cell:	n/a	chr6:34855838-34855852
7	ATF2	chr6:34855528-34856206	GM12878	blood:	n/a	chr6:34855838-34855852
8	ATF2	chr6:34856545-34857022	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr6:34855549-34856136	H1-hESC	embryonic stem cell:	n/a	chr6:34855838-34855852
10	ATF2	chr6:34855555-34856110	GM12878	blood:	n/a	chr6:34855838-34855852
11	ATF3	chr6:34855564-34856045	K562	blood:	n/a	chr6:34855830-34855850 chr6:34855839-34855852 chr6:34855838-34855853
12	ATF3	chr6:34856802-34857214	K562	blood:	n/a	n/a
13	ATF3	chr6:34855575-34856023	H1-hESC	embryonic stem cell:	n/a	chr6:34855830-34855850 chr6:34855839-34855852 chr6:34855838-34855853
14	ATF3	chr6:34855595-34856148	GM12878	blood:	n/a	chr6:34855830-34855850 chr6:34855839-34855852 chr6:34855838-34855853
15	ATF3	chr6:34855565-34856126	K562	blood:	n/a	chr6:34855830-34855850 chr6:34855839-34855852 chr6:34855838-34855853
16	ATF3	chr6:34855569-34856012	HepG2	liver:	n/a	chr6:34855830-34855850 chr6:34855839-34855852 chr6:34855838-34855853
17	ATF3	chr6:34855584-34856143	HepG2	liver:	n/a	chr6:34855830-34855850 chr6:34855839-34855852 chr6:34855838-34855853
18	ATF3	chr6:34855626-34856017	H1-hESC	embryonic stem cell:	n/a	chr6:34855830-34855850 chr6:34855839-34855852 chr6:34855838-34855853
19	ATF3	chr6:34855611-34856089	A549	lung:	n/a	chr6:34855830-34855850 chr6:34855839-34855852 chr6:34855838-34855853
20	ATF3	chr6:34855553-34856043	K562	blood:	n/a	chr6:34855830-34855850 chr6:34855839-34855852 chr6:34855838-34855853
21	BACH1	chr6:34856735-34857116	H1-hESC	embryonic stem cell:	n/a	n/a
22	BCLAF1	chr6:34855583-34856152	GM12878	blood:	n/a	n/a
23	BCLAF1	chr6:34855498-34856151	GM12878	blood:	n/a	n/a
24	BHLHE40	chr6:34856804-34857164	GM12878	blood:	n/a	chr6:34857134-34857150
25	BHLHE40	chr6:34855612-34856038	GM12878	blood:	n/a	n/a
26	BHLHE40	chr6:34855593-34856100	K562	blood:	n/a	n/a
27	BHLHE40	chr6:34856794-34857155	HepG2	liver:	n/a	chr6:34857134-34857150
28	BHLHE40	chr6:34856532-34857173	K562	blood:	n/a	chr6:34857134-34857150
29	BRCA1	chr6:34855630-34856250	Hela-S3	cervix:	n/a	n/a
30	BRCA1	chr6:34856720-34857208	Hela-S3	cervix:	n/a	n/a
31	BRCA1	chr6:34855671-34856036	H1-hESC	embryonic stem cell:	n/a	n/a
32	BRCA1	chr6:34855787-34856109	GM12878	blood:	n/a	n/a
33	BRCA1	chr6:34855662-34856196	HepG2	liver:	n/a	n/a
34	CBX3	chr6:34855492-34857137	K562	blood:	n/a	n/a
35	CBX3	chr6:34855652-34856179	K562	blood:	n/a	n/a
36	CCNT2	chr6:34856797-34857603	K562	blood:	n/a	n/a
37	CCNT2	chr6:34855577-34856270	K562	blood:	n/a	n/a
38	CEBPB	chr6:34855573-34856151	K562	blood:	n/a	n/a
39	CEBPB	chr6:34855470-34856309	GM12878	blood:	n/a	n/a
40	CEBPB	chr6:34855691-34856203	HepG2	liver:	n/a	n/a
41	CEBPB	chr6:34855604-34856267	K562	blood:	n/a	n/a
42	CEBPD	chr6:34856704-34857303	HepG2	liver:	n/a	n/a
43	CEBPD	chr6:34855573-34856031	HepG2	liver:	n/a	n/a
44	CEBPD	chr6:34855485-34856206	K562	blood:	n/a	n/a
45	CHD1	chr6:34856894-34857128	GM12878	blood:	n/a	n/a
46	CHD1	chr6:34855533-34856594	GM12878	blood:	n/a	n/a
47	CHD1	chr6:34855352-34856900	H1-hESC	embryonic stem cell:	n/a	n/a
48	CHD2	chr6:34855549-34856172	Hela-S3	cervix:	n/a	n/a
49	CHD2	chr6:34856906-34857149	HepG2	liver:	n/a	n/a
50	CHD2	chr6:34856797-34857268	Hela-S3	cervix:	n/a	n/a

(count:856 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:34856920-34856970	SK-N-MC	brain:	n/a
2	chr6:34856704-34856754	Caco-2	colon:	n/a
3	chr6:34856920-34856970	SK-N-MC	brain:	n/a
4	chr6:34856704-34856754	Caco-2	colon:	n/a
5	chr6:34856217-34856267	HCPEpiC	choroid plexus:	n/a
6	chr6:34855980-34856030	BJ	skin:	n/a
7	chr6:34857162-34857212	PrEC	prostate:	n/a
8	chr6:34857162-34857212	SK-N-SH_RA	brain:	n/a
9	chr6:34858220-34858270	HUVEC	blood vessel:	n/a
10	chr6:34856920-34856970	HMEC	breast:	n/a
11	chr6:34856158-34856208	HMEC	breast:	n/a
12	chr6:34856217-34856267	AG09319	gingival:	n/a
13	chr6:34857473-34857523	HL-60	blood:	n/a
14	chr6:34855980-34856030	PrEC	prostate:	n/a
15	chr6:34856135-34856185	NB4	blood:	n/a
16	chr6:34855980-34856030	AG09319	gingival:	n/a
17	chr6:34857663-34857713	IMR90	lung:	fetal
18	chr6:34856897-34856947	ECC-1	luminal epithelium:	n/a
19	chr6:34857281-34857331	NHDF-neo	bronchial:	n/a
20	chr6:34856897-34856947	HCPEpiC	choroid plexus:	n/a
21	chr6:34856158-34856208	MCF-7	breast:	n/a
22	chr6:34858220-34858270	SK-N-MC	brain:	n/a
23	chr6:34857018-34857068	IMR90	lung:	fetal
24	chr6:34857281-34857331	K562	blood:	n/a
25	chr6:34857162-34857212	HIPEpiC	eye:	n/a
26	chr6:34856217-34856267	HCF	heart:	n/a
27	chr6:34857473-34857523	SK-N-SH	brain:	n/a
28	chr6:34857281-34857331	HNPCEpiC	eye:	n/a
29	chr6:34857162-34857212	GM19239	blood:	n/a
30	chr6:34856217-34856267	PFSK-1	brain:	n/a
31	chr6:34856217-34856267	A549	lung:	n/a
32	chr6:34857281-34857331	HCM	heart:	n/a
33	chr6:34857162-34857212	HepG2	liver:	n/a
34	chr6:34857281-34857331	HRE	kidney:	n/a
35	chr6:34856217-34856267	HepG2	liver:	n/a
36	chr6:34857663-34857713	NH-A	brain:	n/a
37	chr6:34857281-34857331	AG04450	lung:	fetal
38	chr6:34855980-34856030	HCT-116	colon:	n/a
39	chr6:34856897-34856947	SKMC	muscle:	n/a
40	chr6:34857663-34857713	HCT-116	colon:	n/a
41	chr6:34856704-34856754	BJ	skin:	n/a
42	chr6:34857663-34857713	MCF10A-Er-Src	breast:	n/a
43	chr6:34858220-34858270	AG09309	skin:	n/a
44	chr6:34857473-34857523	Hepatocyte	liver:	n/a
45	chr6:34856217-34856267	GM12878	blood:	n/a
46	chr6:34857018-34857068	Hela-S3	cervix:	n/a
47	chr6:34858220-34858270	T-47D	breast:	n/a
48	chr6:34857663-34857713	RPTEC	kidney:	n/a
49	chr6:34857663-34857713	ovcar-3	ovarian:	n/a
50	chr6:34855980-34856030	HepG2	liver:	n/a

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:34853107..34854715-chr6:34857316..34859285,2	MCF-7	breast:
2	chr6:34203408..34205869-chr6:34858444..34860576,2	K562	blood:
3	chr6:34858328..34861023-chr6:34902579..34904193,2	K562	blood:
4	chr6:34855693..34857942-chr6:35191744..35194149,2	MCF-7	breast:
5	chr6:34854986..34858344-chr6:35226281..35229493,3	K562	blood:
6	chr6:34759044..34761297-chr6:34854138..34856970,2	K562	blood:
7	chr17:56708594..56709416-chr6:34855776..34856394,2	Hela-S3	cervix:
8	chr6:34857178..34858858-chr6:35234868..35237489,2	MCF-7	breast:
9	chr6:34758735..34762506-chr6:34853024..34858695,7	MCF-7	breast:
10	chr6:34723520..34726444-chr6:34854512..34857469,3	MCF-7	breast:
11	chr6:34856224..34858095-chr6:35226235..35229197,2	MCF-7	breast:
12	chr6:34392840..34394590-chr6:34855825..34858514,2	K562	blood:
13	chr15:41913003..41913826-chr6:34855469..34856066,2	Hela-S3	cervix:
14	chr6:27798350..27799895-chr6:34855095..34857385,2	K562	blood:
15	chr6:34855314..34856910-chr6:35435686..35437650,2	MCF-7	breast:
16	chr12:120729250..120730043-chr6:34855337..34856229,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ANKS1A	TF binding region
TAF11	TF binding region
ANKS1A	CpG island
TAF11	CpG island
ENSG00000137309	chromatin interactions
ENSG00000270800	chromatin interactions
ENSG00000124562	chromatin interactions
ENSG00000065060	chromatin interactions
ENSG00000065029	chromatin interactions
ENSG00000198755	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000174197	chromatin interactions
ENSG00000197914	chromatin interactions
ENSG00000124614	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000272374	chromatin interactions

Extended variants
information (count: 102 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543230620	chr6:34856000-34856001	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
2	rs6931110	chr6:34856041-34856042	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs576176812	chr6:34856101-34856102	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
4	rs543051334	chr6:34856126-34856127	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
5	rs6908900	chr6:34856134-34856135	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs532002013	chr6:34856141-34856142	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
7	rs4646914	chr6:34856183-34856184	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
8	rs142768580	chr6:34856226-34856227	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
9	rs146073705	chr6:34856250-34856251	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
10	rs547955345	chr6:34856271-34856272	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
11	rs3756861	chr6:34856335-34856336	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
12	rs1555107	chr6:34856345-34856346	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs544445232	chr6:34856377-34856378	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
14	rs190726566	chr6:34856402-34856403	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
15	rs140022362	chr6:34856403-34856404	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
16	rs538638158	chr6:34856477-34856478	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
17	rs554540961	chr6:34856492-34856493	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
18	rs3756859	chr6:34856501-34856502	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs536857904	chr6:34856506-34856507	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
20	rs4646913	chr6:34856533-34856534	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs76412843	chr6:34856557-34856558	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
22	rs4646912	chr6:34856560-34856561	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
23	rs558365657	chr6:34856566-34856567	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
24	rs576799625	chr6:34856592-34856593	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
25	rs4646911	chr6:34856662-34856663	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs559236964	chr6:34856724-34856725	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
27	rs187347427	chr6:34856732-34856733	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
28	rs4646910	chr6:34856752-34856753	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
29	rs200882498	chr6:34856754-34856755	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
30	rs527247116	chr6:34856801-34856802	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
31	rs574346943	chr6:34856845-34856846	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
32	rs3756858	chr6:34856905-34856906	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs563184647	chr6:34856941-34856942	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
34	rs530615816	chr6:34856942-34856943	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
35	rs182566911	chr6:34856948-34856949	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
36	rs550279155	chr6:34856949-34856950	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
37	rs74723861	chr6:34857026-34857027	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
38	rs554502936	chr6:34857045-34857046	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
39	rs139365554	chr6:34857059-34857060	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
40	rs536902232	chr6:34857086-34857087	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs548887218	chr6:34857091-34857092	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs532294567	chr6:34857125-34857126	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs537225614	chr6:34857132-34857133	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs558651772	chr6:34857156-34857157	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs576829336	chr6:34857165-34857166	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs534322132	chr6:34857248-34857249	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs71538280	chr6:34857304-34857305	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs190026995	chr6:34857311-34857312	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs574085852	chr6:34857359-34857360	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs541769336	chr6:34857419-34857420	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	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

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

Chromatin state (count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34854200-34858200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:34854400-34858200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:34854400-34858200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:34854400-34858200	Active TSS	K562	blood
5	chr6:34854400-34859200	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr6:34854600-34856600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr6:34854600-34858000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:34854600-34858200	Active TSS	H1 Cell Line	embryonic stem cell
9	chr6:34854600-34858200	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr6:34854600-34858200	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr6:34854600-34858200	Active TSS	Psoas Muscle	Psoas
12	chr6:34854600-34858200	Active TSS	HSMM	muscle
13	chr6:34854600-34858400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr6:34854600-34858600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr6:34854600-34858600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr6:34854600-34858800	Active TSS	H9 Cell Line	embryonic stem cell
17	chr6:34854600-34858800	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr6:34854600-34858800	Active TSS	Right Ventricle	heart
19	chr6:34854600-34859000	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr6:34854800-34856200	Active TSS	HMEC	breast
21	chr6:34854800-34856200	Active TSS	HSMMtube	muscle
22	chr6:34854800-34856200	Active TSS	HUVEC	blood vessel
23	chr6:34854800-34856400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr6:34854800-34856400	Active TSS	Muscle Satellite Cultured Cells	--
25	chr6:34854800-34856400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr6:34854800-34856400	Active TSS	Osteobl	bone
27	chr6:34854800-34857000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr6:34854800-34857000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr6:34854800-34858000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr6:34854800-34858000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:34854800-34858000	Active TSS	Brain Cingulate Gyrus	brain
32	chr6:34854800-34858200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr6:34854800-34858200	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr6:34854800-34858200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr6:34854800-34858200	Active TSS	Esophagus	oesophagus
36	chr6:34854800-34858200	Active TSS	Fetal Kidney	kidney
37	chr6:34854800-34858200	Active TSS	GM12878-XiMat	blood
38	chr6:34854800-34858200	Active TSS	NH-A	brain
39	chr6:34854800-34858400	Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr6:34854800-34858400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr6:34854800-34858400	Active TSS	Gastric	stomach
42	chr6:34854800-34858400	Active TSS	A549	lung
43	chr6:34854800-34858400	Active TSS	NHDF-Ad	bronchial
44	chr6:34854800-34858400	Active TSS	NHLF	lung
45	chr6:34854800-34858600	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr6:34854800-34858800	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr6:34855000-34856400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr6:34855000-34856800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
49	chr6:34855000-34857800	Active TSS	Placenta Amnion	Placenta Amnion
50	chr6:34855000-34857800	Active TSS	Hela-S3	cervix

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