Variant report

Variant	esv3514081
Chromosome Location	chr6:56818693-56821116
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	chr6:56819871-56820412	K562	blood:	n/a	n/a
2	ARID3A	chr6:56819983-56820269	HepG2	liver:	n/a	n/a
3	ATF2	chr6:56818133-56818874	GM12878	blood:	n/a	n/a
4	ATF2	chr6:56819977-56820719	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr6:56820294-56820697	GM12878	blood:	n/a	n/a
6	ATF2	chr6:56818259-56818890	GM12878	blood:	n/a	n/a
7	ATF2	chr6:56819836-56820432	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr6:56819919-56821092	GM12878	blood:	n/a	n/a
9	ATF3	chr6:56819728-56820242	K562	blood:	n/a	chr6:56819820-56819829 chr6:56819932-56819941
10	ATF3	chr6:56819392-56819722	K562	blood:	n/a	chr6:56819516-56819525
11	ATF3	chr6:56819767-56820311	K562	blood:	n/a	chr6:56819820-56819829 chr6:56819932-56819941
12	BACH1	chr6:56819418-56819736	K562	blood:	n/a	chr6:56819593-56819607
13	BACH1	chr6:56818233-56820972	H1-hESC	embryonic stem cell:	n/a	chr6:56819593-56819607 chr6:56818672-56818686
14	BATF	chr6:56820373-56820898	GM12878	blood:	n/a	chr6:56820511-56820521
15	BATF	chr6:56818274-56819000	GM12878	blood:	n/a	chr6:56818675-56818686
16	BATF	chr6:56818395-56818704	GM12878	blood:	n/a	chr6:56818675-56818686
17	BCL11A	chr6:56818338-56818813	GM12878	blood:	n/a	n/a
18	BCL11A	chr6:56818245-56818837	GM12878	blood:	n/a	n/a
19	BCL3	chr6:56819927-56820328	GM12878	blood:	n/a	chr6:56820001-56820014 chr6:56820313-56820322
20	BCL3	chr6:56819954-56820443	A549	lung:	n/a	chr6:56820001-56820014 chr6:56820313-56820322
21	BCLAF1	chr6:56819882-56821005	GM12878	blood:	n/a	chr6:56820510-56820519 chr6:56819882-56819891 chr6:56820001-56820014 chr6:56820313-56820322 chr6:56819885-56819894
22	BCLAF1	chr6:56819863-56820348	GM12878	blood:	n/a	chr6:56819877-56819890 chr6:56819880-56819893 chr6:56819882-56819891 chr6:56820001-56820014 chr6:56820313-56820322 chr6:56819885-56819894
23	BCLAF1	chr6:56818137-56818833	GM12878	blood:	n/a	chr6:56818176-56818185
24	BCLAF1	chr6:56820479-56821024	GM12878	blood:	n/a	chr6:56820510-56820519
25	BHLHE40	chr6:56819271-56820988	GM12878	blood:	n/a	chr6:56819836-56819852 chr6:56819844-56819860 chr6:56819850-56819866 chr6:56819771-56819787
26	BHLHE40	chr6:56819251-56820292	HepG2	liver:	n/a	chr6:56819836-56819852 chr6:56819844-56819860 chr6:56819850-56819866 chr6:56819771-56819787
27	BHLHE40	chr6:56818387-56818820	GM12878	blood:	n/a	n/a
28	BHLHE40	chr6:56819202-56820978	K562	blood:	n/a	chr6:56819836-56819852 chr6:56819844-56819860 chr6:56819850-56819866 chr6:56819771-56819787
29	BRCA1	chr6:56819972-56820319	HepG2	liver:	n/a	n/a
30	BRCA1	chr6:56820000-56820621	Hela-S3	cervix:	n/a	n/a
31	BRCA1	chr6:56820762-56820815	GM12878	blood:	n/a	n/a
32	CBX3	chr6:56820556-56820985	K562	blood:	n/a	n/a
33	CBX3	chr6:56819972-56820280	K562	blood:	n/a	n/a
34	CBX3	chr6:56819851-56820510	K562	blood:	n/a	n/a
35	CCNT2	chr6:56818752-56820369	K562	blood:	n/a	n/a
36	CCNT2	chr6:56820694-56820986	K562	blood:	n/a	n/a
37	CEBPB	chr6:56820519-56820868	A549	lung:	n/a	n/a
38	CEBPB	chr6:56820431-56820914	K562	blood:	n/a	n/a
39	CEBPB	chr6:56819799-56820931	Hela-S3	cervix:	n/a	n/a
40	CEBPB	chr6:56820480-56820912	A549	lung:	n/a	n/a
41	CEBPB	chr6:56820443-56820930	K562	blood:	n/a	n/a
42	CEBPB	chr6:56820346-56821087	GM12878	blood:	n/a	n/a
43	CEBPB	chr6:56819866-56819947	K562	blood:	n/a	n/a
44	CEBPB	chr6:56820468-56820936	HepG2	liver:	n/a	n/a
45	CEBPB	chr6:56820757-56820959	GM12878	blood:	n/a	n/a
46	CEBPB	chr6:56820375-56820995	MCF-7	breast:	n/a	n/a
47	CEBPB	chr6:56819899-56820929	H1-hESC	embryonic stem cell:	n/a	n/a
48	CEBPB	chr6:56819901-56820883	IMR90	lung:	n/a	n/a
49	CEBPB	chr6:56820516-56820768	K562	blood:	n/a	n/a
50	CEBPB	chr6:56818153-56818866	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:56820869-56820919	SK-N-MC	brain:	n/a
2	chr6:56819912-56819962	Hepatocyte	liver:	n/a
3	chr6:56819612-56819662	HCPEpiC	choroid plexus:	n/a
4	chr6:56819623-56819673	GM12891	blood:	n/a
5	chr6:56820286-56820336	HRPEpiC	eye:	n/a
6	chr6:56820087-56820137	PFSK-1	brain:	n/a
7	chr6:56819298-56819348	MCF10A-Er-Src	breast:	n/a
8	chr6:56820808-56820858	HEEpiC	esophagus:	n/a
9	chr6:56819432-56819482	GM19239	blood:	n/a
10	chr6:56819615-56819665	GM06990	blood:	n/a
11	chr6:56820869-56820919	PFSK-1	brain:	n/a
12	chr6:56819612-56819662	MCF10A-Er-Src	breast:	n/a
13	chr6:56819298-56819348	K562	blood:	n/a
14	chr6:56819612-56819662	ProgFib	skin:	n/a
15	chr6:56819298-56819348	SK-N-SH_RA	brain:	n/a
16	chr6:56819612-56819662	CMK	blood:	n/a
17	chr6:56820087-56820137	GM12891	blood:	n/a
18	chr6:56819429-56819479	NB4	blood:	n/a
19	chr6:56819298-56819348	MCF-7	breast:	n/a
20	chr6:56820286-56820336	PFSK-1	brain:	n/a
21	chr6:56820286-56820336	SK-N-MC	brain:	n/a
22	chr6:56819615-56819665	Hela-S3	cervix:	n/a
23	chr6:56820778-56820828	SKMC	muscle:	n/a
24	chr6:56819615-56819665	T-47D	breast:	n/a
25	chr6:56820778-56820828	HCF	heart:	n/a
26	chr6:56820808-56820858	HMEC	breast:	n/a
27	chr6:56819429-56819479	A549	lung:	n/a
28	chr6:56819623-56819673	PrEC	prostate:	n/a
29	chr6:56819429-56819479	NHDF-neo	bronchial:	n/a
30	chr6:56819432-56819482	Caco-2	colon:	n/a
31	chr6:56819429-56819479	AG04449	skin:	fetal
32	chr6:56820286-56820336	NHBE	bronchial:	n/a
33	chr6:56819912-56819962	GM19239	blood:	n/a
34	chr6:56820808-56820858	HRCEpiC	kidney:	n/a
35	chr6:56820386-56820436	AoSMC	blood vessel:	n/a
36	chr6:56820286-56820336	GM19239	blood:	n/a
37	chr6:56819432-56819482	GM12878	blood:	n/a
38	chr6:56819612-56819662	GM12878	blood:	n/a
39	chr6:56819432-56819482	A549	lung:	n/a
40	chr6:56819623-56819673	HepG2	liver:	n/a
41	chr6:56820286-56820336	MCF10A-Er-Src	breast:	n/a
42	chr6:56819298-56819348	AG04450	lung:	fetal
43	chr6:56819623-56819673	ECC-1	luminal epithelium:	n/a
44	chr6:56819615-56819665	HCT-116	colon:	n/a
45	chr6:56820808-56820858	HCT-116	colon:	n/a
46	chr6:56819298-56819348	HCF	heart:	n/a
47	chr6:56820869-56820919	GM12878	blood:	n/a
48	chr6:56819612-56819662	HRE	kidney:	n/a
49	chr6:56820808-56820858	BE2_C	brain:	n/a
50	chr6:56820286-56820336	IMR90	lung:	fetal

No.	Distal block	Cell Line	Cell type
1	chr10:101380540..101381425-chr6:56819022..56819785,2	NB4	blood:
2	chr6:56820475..56822704-chr6:56829156..56832250,3	MCF-7	breast:
3	chr6:56818562..56821573-chr6:56964600..56969072,4	K562	blood:
4	chr6:56817510..56820425-chr6:57182215..57184592,2	K562	blood:
5	chr6:56716516..56717082-chr6:56820161..56820759,2	MCF-7	breast:
6	chr6:56767464..56768319-chr6:56820397..56821373,5	MCF-7	breast:
7	chr3:53925577..53926163-chr6:56819278..56819811,2	Hela-S3	cervix:
8	chr6:56819605..56821184-chr6:57037443..57039145,2	K562	blood:
9	chr6:56820267..56822074-chr6:56879367..56881411,2	K562	blood:
10	chr6:56820330..56821970-chr6:56922226..56924549,2	MCF-7	breast:
11	chr6:56819190..56819889-chr8:141520799..141521484,2	Hela-S3	cervix:
12	chr6:56818167..56820292-chr6:57177596..57182762,4	MCF-7	breast:
13	chr6:56817813..56820711-chr6:56965881..56967844,2	K562	blood:
14	chr6:56818586..56820160-chr6:56954804..56956394,2	K562	blood:
15	chr6:56817882..56819972-chr6:57035811..57037517,2	K562	blood:
16	chr6:56809927..56811973-chr6:56817461..56820564,4	MCF-7	breast:
17	chr6:56818533..56822842-chr6:56954657..56959004,6	K562	blood:
18	chr6:56818015..56821855-chr6:57180367..57183028,4	K562	blood:
19	chr6:56818718..56821144-chr6:56954189..56956169,2	MCF-7	breast:
20	chr6:56817242..56820030-chr9:96215701..96218251,2	MCF-7	breast:
21	chr6:56816669..56821714-chr6:56908406..56912975,10	K562	blood:
22	chr6:56714424..56718313-chr6:56818301..56821248,4	MCF-7	breast:
23	chr6:56817930..56821539-chr6:56909452..56912838,6	K562	blood:

Variant related genes	Relation type
BEND6	TF binding region
DST	TF binding region
BEND6	CpG island
DST	CpG island
ENSG00000112200	chromatin interactions
ENSG00000146143	chromatin interactions
ENSG00000226803	chromatin interactions
ENSG00000260475	chromatin interactions
ENSG00000112208	chromatin interactions
ENSG00000104472	chromatin interactions
ENSG00000151914	chromatin interactions
ENSG00000113811	chromatin interactions
ENSG00000168116	chromatin interactions
ENSG00000200224	chromatin interactions
ENSG00000188938	chromatin interactions

Extended variants
information (count: 82 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs986245	chr6:56818706-56818707	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550783516	chr6:56818743-56818744	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
3	rs71564870	chr6:56818846-56818847	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs181524404	chr6:56818902-56818903	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs540352529	chr6:56818909-56818910	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs560673689	chr6:56818910-56818911	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
7	rs147454833	chr6:56818931-56818932	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
8	rs542750836	chr6:56818993-56818994	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
9	rs186255476	chr6:56818999-56819000	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
10	rs112547632	chr6:56819031-56819032	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
11	rs541923317	chr6:56819085-56819086	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
12	rs373747723	chr6:56819088-56819089	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
13	rs556751146	chr6:56819091-56819092	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
14	rs191304741	chr6:56819094-56819095	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
15	rs545551642	chr6:56819157-56819158	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
16	rs112460085	chr6:56819158-56819159	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
17	rs563928155	chr6:56819162-56819163	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
18	rs375552253	chr6:56819164-56819165	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
19	rs528418471	chr6:56819169-56819170	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
20	rs371602025	chr6:56819177-56819178	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
21	rs540136976	chr6:56819182-56819183	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
22	rs374719750	chr6:56819195-56819196	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
23	rs367760336	chr6:56819196-56819197	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
24	rs371865773	chr6:56819224-56819225	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
25	rs375301517	chr6:56819236-56819237	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
26	rs563012616	chr6:56819247-56819248	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
27	rs139905357	chr6:56819253-56819254	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
28	rs371992372	chr6:56819258-56819259	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
29	rs376570486	chr6:56819277-56819278	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
30	rs369858396	chr6:56819282-56819283	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
31	rs552050020	chr6:56819286-56819287	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
32	rs567048270	chr6:56819297-56819298	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
33	rs150003298	chr6:56819326-56819327	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
34	rs555749699	chr6:56819380-56819381	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
35	rs13219655	chr6:56819412-56819413	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
36	rs568067794	chr6:56819470-56819471	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
37	rs535057053	chr6:56819486-56819487	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
38	rs557026817	chr6:56819564-56819565	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
39	rs575033955	chr6:56819582-56819583	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
40	rs539146286	chr6:56819584-56819585	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
41	rs557561290	chr6:56819724-56819725	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
42	rs572688845	chr6:56819757-56819758	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
43	rs540538892	chr6:56819779-56819780	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
44	rs561807560	chr6:56819809-56819810	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
45	rs573982192	chr6:56819899-56819900	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
46	rs544240118	chr6:56819918-56819919	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
47	rs562861910	chr6:56819919-56819920	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
48	rs533493489	chr6:56820007-56820008	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
49	rs551888601	chr6:56820045-56820046	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
50	rs560684233	chr6:56820051-56820052	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	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
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	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
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	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
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	16912164	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD

Chromatin state (count:414 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56817000-56820600	Active TSS	NHLF	lung
2	chr6:56817400-56819000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr6:56817800-56818800	Flanking Active TSS	Brain Cingulate Gyrus	brain
4	chr6:56817800-56818800	Flanking Active TSS	NH-A	brain
5	chr6:56817800-56819200	Flanking Active TSS	Hela-S3	cervix
6	chr6:56817800-56819400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr6:56817800-56821200	Active TSS	NHDF-Ad	bronchial
8	chr6:56818000-56818800	Flanking Active TSS	HMEC	breast
9	chr6:56818000-56820400	Active TSS	Muscle Satellite Cultured Cells	--
10	chr6:56818000-56820600	Active TSS	Colon Smooth Muscle	Colon
11	chr6:56818000-56821000	Active TSS	HSMM	muscle
12	chr6:56818000-56821200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:56818000-56821400	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr6:56818200-56818800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
15	chr6:56818200-56818800	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr6:56818200-56819000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
17	chr6:56818200-56819000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr6:56818200-56819000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr6:56818200-56819000	Enhancers	Spleen	Spleen
20	chr6:56818200-56819200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
21	chr6:56818200-56819200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
22	chr6:56818200-56819400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
23	chr6:56818200-56819400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr6:56818200-56819400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr6:56818200-56819400	Flanking Active TSS	Placenta	Placenta
26	chr6:56818200-56819400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
27	chr6:56818200-56819400	Active TSS	Right Atrium	heart
28	chr6:56818200-56819400	Flanking Active TSS	HUVEC	blood vessel
29	chr6:56818200-56820200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr6:56818200-56820200	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
31	chr6:56818200-56820400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr6:56818200-56820400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr6:56818200-56820800	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr6:56818200-56820800	Active TSS	Aorta	Aorta
35	chr6:56818200-56821000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr6:56818200-56821000	Bivalent/Poised TSS	Fetal Kidney	kidney
37	chr6:56818200-56821000	Active TSS	Rectal Smooth Muscle	rectum
38	chr6:56818200-56821000	Active TSS	A549	lung
39	chr6:56818400-56818800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
40	chr6:56818400-56818800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
41	chr6:56818400-56818800	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 2	blood
42	chr6:56818400-56818800	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
43	chr6:56818400-56818800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr6:56818400-56818800	Flanking Active TSS	Stomach Smooth Muscle	stomach
45	chr6:56818400-56819000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr6:56818400-56819000	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
47	chr6:56818400-56819200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
48	chr6:56818400-56819200	Bivalent Enhancer	Fetal Heart	heart
49	chr6:56818400-56819200	Flanking Bivalent TSS/Enh	Fetal Lung	lung
50	chr6:56818400-56819200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach

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