Variant report

Variant	esv3377797
Chromosome Location	chr6:149637284-149640632
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:149638387-149638753	K562	blood:	n/a	n/a
2	ARID3A	chr6:149638494-149638818	HepG2	liver:	n/a	n/a
3	ATF2	chr6:149640165-149641065	GM12878	blood:	n/a	n/a
4	ATF2	chr6:149639222-149640982	GM12878	blood:	n/a	n/a
5	BCL3	chr6:149638360-149639002	GM12878	blood:	n/a	chr6:149638863-149638876 chr6:149638416-149638429 chr6:149638655-149638668 chr6:149638658-149638671 chr6:149638660-149638669 chr6:149638441-149638454
6	BCLAF1	chr6:149637776-149638885	GM12878	blood:	n/a	chr6:149638863-149638876 chr6:149638416-149638429 chr6:149638127-149638136 chr6:149638655-149638668 chr6:149638658-149638671 chr6:149638660-149638669 chr6:149638240-149638249 chr6:149638441-149638454
7	BCLAF1	chr6:149639540-149640584	GM12878	blood:	n/a	chr6:149639598-149639607 chr6:149640392-149640401 chr6:149639540-149639549 chr6:149640035-149640042
8	BHLHE40	chr6:149639174-149639612	GM12878	blood:	n/a	n/a
9	BHLHE40	chr6:149637930-149638962	GM12878	blood:	n/a	chr6:149638614-149638630 chr6:149638624-149638640 chr6:149638866-149638882 chr6:149638444-149638460 chr6:149638860-149638876 chr6:149638863-149638879
10	BHLHE40	chr6:149637876-149638744	K562	blood:	n/a	chr6:149638614-149638630 chr6:149638624-149638640 chr6:149638444-149638460
11	BHLHE40	chr6:149639101-149639377	K562	blood:	n/a	n/a
12	BRCA1	chr6:149639161-149639318	Hela-S3	cervix:	n/a	n/a
13	BRCA1	chr6:149638295-149638834	GM12878	blood:	n/a	n/a
14	BRCA1	chr6:149639201-149639305	HepG2	liver:	n/a	n/a
15	BRCA1	chr6:149638136-149638837	H1-hESC	embryonic stem cell:	n/a	n/a
16	BRCA1	chr6:149639146-149639346	GM12878	blood:	n/a	n/a
17	BRCA1	chr6:149639172-149639297	H1-hESC	embryonic stem cell:	n/a	n/a
18	BRCA1	chr6:149638441-149638880	HepG2	liver:	n/a	n/a
19	BRCA1	chr6:149638271-149638845	Hela-S3	cervix:	n/a	n/a
20	CBX3	chr6:149638290-149638781	K562	blood:	n/a	n/a
21	CCNT2	chr6:149637982-149639574	K562	blood:	n/a	chr6:149639539-149639548 chr6:149638900-149638909 chr6:149639363-149639372 chr6:149639413-149639422 chr6:149638895-149638904 chr6:149638505-149638514
22	CEBPB	chr6:149640149-149640463	K562	blood:	n/a	chr6:149640324-149640335 chr6:149640325-149640336 chr6:149640324-149640337
23	CEBPB	chr6:149640146-149640486	IMR90	lung:	n/a	chr6:149640324-149640335 chr6:149640325-149640336 chr6:149640324-149640337
24	CEBPB	chr6:149638273-149638730	Hela-S3	cervix:	n/a	n/a
25	CEBPB	chr6:149640170-149640505	HepG2	liver:	n/a	chr6:149640324-149640335 chr6:149640325-149640336 chr6:149640324-149640337
26	CEBPB	chr6:149639758-149640526	Hela-S3	cervix:	n/a	chr6:149640324-149640335 chr6:149640325-149640336 chr6:149640324-149640337
27	CEBPB	chr6:149640084-149640531	A549	lung:	n/a	chr6:149640324-149640335 chr6:149640325-149640336 chr6:149640324-149640337
28	CEBPB	chr6:149640164-149640479	A549	lung:	n/a	chr6:149640324-149640335 chr6:149640325-149640336 chr6:149640324-149640337
29	CEBPB	chr6:149640114-149640532	MCF-7	breast:	n/a	chr6:149640324-149640335 chr6:149640325-149640336 chr6:149640324-149640337
30	CEBPD	chr6:149638348-149638917	HepG2	liver:	n/a	n/a
31	CHD1	chr6:149638309-149638482	H1-hESC	embryonic stem cell:	n/a	chr6:149638334-149638344
32	CHD1	chr6:149639125-149639327	GM12878	blood:	n/a	n/a
33	CHD1	chr6:149638008-149638601	GM12878	blood:	n/a	chr6:149638577-149638587 chr6:149638334-149638344
34	CHD1	chr6:149639695-149640599	GM12878	blood:	n/a	n/a
35	CHD1	chr6:149637894-149638074	H1-hESC	embryonic stem cell:	n/a	n/a
36	CHD1	chr6:149639236-149639252	H1-hESC	embryonic stem cell:	n/a	n/a
37	CHD2	chr6:149638025-149639755	HepG2	liver:	n/a	chr6:149639412-149639422 chr6:149638577-149638587 chr6:149638334-149638344
38	CHD2	chr6:149637997-149640063	K562	blood:	n/a	chr6:149639412-149639422 chr6:149638577-149638587 chr6:149638334-149638344
39	CHD2	chr6:149637953-149639871	Hela-S3	cervix:	n/a	chr6:149639412-149639422 chr6:149638577-149638587 chr6:149638334-149638344
40	CHD2	chr6:149638180-149639535	H1-hESC	embryonic stem cell:	n/a	chr6:149639412-149639422 chr6:149638577-149638587 chr6:149638334-149638344
41	CHD2	chr6:149637881-149640368	GM12878	blood:	n/a	chr6:149639412-149639422 chr6:149638577-149638587 chr6:149638334-149638344
42	CREB1	chr6:149637892-149639789	HepG2	liver:	n/a	n/a
43	CREB1	chr6:149637918-149640040	GM12878	blood:	n/a	n/a
44	CREB1	chr6:149638277-149638871	H1-hESC	embryonic stem cell:	n/a	n/a
45	CREB1	chr6:149638064-149638729	A549	lung:	n/a	n/a
46	CREB1	chr6:149638004-149638737	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTBP2	chr6:149637974-149638719	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr6:149638120-149638270	GM12865	blood:	n/a	n/a
49	CTCF	chr6:149638300-149638450	NHDF-neo	bronchial:	n/a	n/a
50	CTCF	chr6:149638383-149638385	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:149638666-149638716	HRPEpiC	eye:	n/a
2	chr6:149638666-149638716	A549	lung:	n/a
3	chr6:149638666-149638716	HRPEpiC	eye:	n/a
4	chr6:149638666-149638716	A549	lung:	n/a
5	chr6:149639693-149639743	SK-N-SH	brain:	n/a
6	chr6:149639041-149639091	HIPEpiC	eye:	n/a
7	chr6:149639041-149639091	U87	brain:	n/a
8	chr6:149639101-149639151	HAEpiC	amniotic membrane:	n/a
9	chr6:149638041-149638091	HepG2	liver:	n/a
10	chr6:149638041-149638091	AG09319	gingival:	n/a
11	chr6:149637881-149637931	LNCaP	prostate:	n/a
12	chr6:149639693-149639743	K562	blood:	n/a
13	chr6:149638382-149638432	NHDF-neo	bronchial:	n/a
14	chr6:149639693-149639743	HEK293	kidney:	embryo
15	chr6:149639693-149639743	RPTEC	kidney:	n/a
16	chr6:149639693-149639743	HCPEpiC	choroid plexus:	n/a
17	chr6:149638041-149638091	LNCaP	prostate:	n/a
18	chr6:149638382-149638432	HCM	heart:	n/a
19	chr6:149637881-149637931	T-47D	breast:	n/a
20	chr6:149638041-149638091	ECC-1	luminal epithelium:	n/a
21	chr6:149638041-149638091	NHBE	bronchial:	n/a
22	chr6:149638666-149638716	HEK293	kidney:	embryo
23	chr6:149639693-149639743	HRE	kidney:	n/a
24	chr6:149638041-149638091	IMR90	lung:	fetal
25	chr6:149639101-149639151	NB4	blood:	n/a
26	chr6:149637881-149637931	HMEC	breast:	n/a
27	chr6:149638666-149638716	GM12892	blood:	n/a
28	chr6:149638041-149638091	SK-N-SH_RA	brain:	n/a
29	chr6:149639041-149639091	HEEpiC	esophagus:	n/a
30	chr6:149638666-149638716	GM12891	blood:	n/a
31	chr6:149639101-149639151	Hela-S3	cervix:	n/a
32	chr6:149639041-149639091	SK-N-MC	brain:	n/a
33	chr6:149639041-149639091	HMEC	breast:	n/a
34	chr6:149639041-149639091	NHDF-neo	bronchial:	n/a
35	chr6:149639101-149639151	PFSK-1	brain:	n/a
36	chr6:149639101-149639151	T-47D	breast:	n/a
37	chr6:149638666-149638716	HCM	heart:	n/a
38	chr6:149638382-149638432	IMR90	lung:	fetal
39	chr6:149637881-149637931	NB4	blood:	n/a
40	chr6:149639693-149639743	HepG2	liver:	n/a
41	chr6:149638666-149638716	SK-N-SH	brain:	n/a
42	chr6:149638041-149638091	GM12878	blood:	n/a
43	chr6:149639101-149639151	AG04449	skin:	fetal
44	chr6:149638666-149638716	T-47D	breast:	n/a
45	chr6:149639041-149639091	AG04449	skin:	fetal
46	chr6:149639693-149639743	HRPEpiC	eye:	n/a
47	chr6:149638666-149638716	HCPEpiC	choroid plexus:	n/a
48	chr6:149638666-149638716	NH-A	brain:	n/a
49	chr6:149639101-149639151	ProgFib	skin:	n/a
50	chr6:149639693-149639743	SKMC	muscle:	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:149619251..149620814-chr6:149634430..149637387,2	K562	blood:
2	chr6:149635359..149638022-chr6:149700186..149702826,2	K562	blood:
3	chr6:149557890..149560221-chr6:149637001..149638608,2	MCF-7	breast:
4	chr6:149351823..149355344-chr6:149638842..149641991,4	MCF-7	breast:
5	chr6:149406954..149409794-chr6:149636560..149638477,3	MCF-7	breast:
6	chr6:149516981..149518503-chr6:149637137..149638798,2	MCF-7	breast:
7	chr6:149538892..149540721-chr6:149638148..149641111,2	MCF-7	breast:
8	chr6:149636340..149638301-chr6:150416961..150418644,2	K562	blood:
9	chr12:32832084..32832584-chr6:149638471..149638974,2	NB4	blood:
10	chr6:149638315..149640262-chr6:149865472..149868393,2	K562	blood:
11	chr4:174090099..174090929-chr6:149638008..149638852,2	NB4	blood:
12	chr6:149349779..149353985-chr6:149637379..149639962,5	MCF-7	breast:
13	chr6:149637077..149638837-chr6:149727129..149729209,2	K562	blood:
14	chr6:149638704..149639215-chr9:132388273..132388852,2	Hela-S3	cervix:
15	chr6:149636797..149639661-chr6:149663144..149666590,3	K562	blood:
16	chr6:149625453..149629470-chr6:149636058..149640474,5	MCF-7	breast:
17	chr6:149397256..149399835-chr6:149636593..149638648,2	MCF-7	breast:
18	chr6:149409902..149411675-chr6:149636224..149638635,2	K562	blood:

Variant related genes	Relation type
TAB2	TF binding region
TAB2	CpG island
ENSG00000148335	chromatin interactions
ENSG00000131013	chromatin interactions
ENSG00000216265	chromatin interactions
ENSG00000236591	chromatin interactions
ENSG00000055208	chromatin interactions
ENSG00000228408	chromatin interactions
ENSG00000245213	chromatin interactions
ENSG00000087470	chromatin interactions

Extended variants
information (count: 115 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138539099	chr6:149637351-149637352	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs547387592	chr6:149637432-149637433	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs141497088	chr6:149637482-149637483	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs564544554	chr6:149637495-149637496	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs150695927	chr6:149637503-149637504	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs200532606	chr6:149637529-149637530	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs34279568	chr6:149637532-149637533	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs34748017	chr6:149637535-149637536	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs552218110	chr6:149637576-149637577	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs548681280	chr6:149637584-149637585	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs565988602	chr6:149637631-149637632	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs574933975	chr6:149637642-149637643	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs543553809	chr6:149637647-149637648	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs34730646	chr6:149637683-149637684	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs11155639	chr6:149637690-149637691	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs149414464	chr6:149637750-149637751	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs143746980	chr6:149637764-149637765	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs536385732	chr6:149637773-149637774	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs527643280	chr6:149637777-149637778	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs559848	chr6:149637811-149637812	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs546200853	chr6:149637833-149637834	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs576255949	chr6:149637901-149637902	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs545603832	chr6:149637908-149637909	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs62426062	chr6:149637918-149637919	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs545656	chr6:149637979-149637980	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs114014387	chr6:149638084-149638085	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs113790334	chr6:149638091-149638092	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs560936148	chr6:149638101-149638102	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs529805216	chr6:149638132-149638133	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs473451	chr6:149638198-149638199	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs563452445	chr6:149638201-149638202	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs521989	chr6:149638224-149638225	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs552356859	chr6:149638235-149638236	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs565787982	chr6:149638297-149638298	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs373763659	chr6:149638372-149638373	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs528431882	chr6:149638375-149638376	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs475342	chr6:149638396-149638397	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs520852	chr6:149638397-149638398	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs536322220	chr6:149638416-149638417	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs556209567	chr6:149638424-149638425	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs570148239	chr6:149638430-149638431	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs538817826	chr6:149638455-149638456	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs559111985	chr6:149638479-149638480	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs572649536	chr6:149638544-149638545	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs571243594	chr6:149638553-149638554	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs5880831	chr6:149638554-149638555	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs567381641	chr6:149638557-149638558	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs34953328	chr6:149638572-149638573	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs398066381	chr6:149638574-149638575	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs541753467	chr6:149638622-149638623	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Autism	22495311	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
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Cancer	17160897	CNVD
Breast cancer	17417639	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD

Chromatin state (count:372 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149628000-149637800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:149635800-149637400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr6:149635800-149637400	Weak transcription	Fetal Heart	heart
4	chr6:149636200-149637400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr6:149636200-149637400	Weak transcription	Fetal Brain Male	brain
6	chr6:149636200-149637400	Weak transcription	Fetal Brain Female	brain
7	chr6:149636600-149637600	Enhancers	Brain Hippocampus Middle	brain
8	chr6:149636600-149637800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr6:149636600-149637800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr6:149636800-149637400	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr6:149636800-149637600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr6:149637000-149637400	Enhancers	Primary B cells from cord blood	blood
13	chr6:149637000-149637400	Enhancers	Primary T cells from cord blood	blood
14	chr6:149637000-149637400	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr6:149637000-149637800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr6:149637200-149637400	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr6:149637200-149637400	Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr6:149637200-149637400	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr6:149637200-149637400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr6:149637200-149637400	Enhancers	Muscle Satellite Cultured Cells	--
21	chr6:149637200-149637400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr6:149637200-149637400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr6:149637200-149637400	Enhancers	Brain Anterior Caudate	brain
24	chr6:149637200-149637400	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr6:149637200-149637400	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr6:149637200-149637400	Enhancers	Fetal Lung	lung
27	chr6:149637200-149637400	Enhancers	Dnd41	blood
28	chr6:149637200-149637400	Enhancers	HMEC	breast
29	chr6:149637200-149637400	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr6:149637200-149637400	Enhancers	NHEK	skin
31	chr6:149637200-149637600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr6:149637200-149637600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr6:149637200-149637600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr6:149637200-149637600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr6:149637200-149637600	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr6:149637200-149637600	Enhancers	Liver	Liver
37	chr6:149637200-149637600	Enhancers	Rectal Smooth Muscle	rectum
38	chr6:149637200-149637600	Flanking Active TSS	GM12878-XiMat	blood
39	chr6:149637200-149637600	Enhancers	HSMM	muscle
40	chr6:149637200-149637600	Bivalent Enhancer	HUVEC	blood vessel
41	chr6:149637200-149637800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr6:149637200-149637800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr6:149637200-149637800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr6:149637200-149637800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr6:149637200-149639800	Active TSS	K562	blood
46	chr6:149637200-149640000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr6:149637200-149640200	Active TSS	HUES64 Cell Line	embryonic stem cell
48	chr6:149637200-149640200	Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr6:149637200-149640400	Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr6:149637200-149640400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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