Variant report

Variant	esv3421701
Chromosome Location	chr6:13485573-13489871
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:803)
CpG islands
(count:1221)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:803 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:13487615-13487775	HepG2	liver:	n/a	n/a
2	BACH1	chr6:13486528-13486759	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr6:13487322-13487860	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr6:13486112-13486307	H1-hESC	embryonic stem cell:	n/a	n/a
5	BCLAF1	chr6:13487425-13487979	GM12878	blood:	n/a	chr6:13487731-13487744 chr6:13487728-13487741
6	BHLHE40	chr6:13485785-13487912	K562	blood:	n/a	chr6:13486336-13486352 chr6:13487437-13487453 chr6:13487232-13487248
7	BHLHE40	chr6:13488435-13488864	HepG2	liver:	n/a	chr6:13488677-13488693 chr6:13488523-13488539 chr6:13488692-13488701 chr6:13488692-13488701
8	BHLHE40	chr6:13486953-13487214	GM12878	blood:	n/a	n/a
9	BHLHE40	chr6:13488361-13488901	GM12878	blood:	n/a	chr6:13488677-13488693 chr6:13488523-13488539 chr6:13488692-13488701 chr6:13488692-13488701
10	BHLHE40	chr6:13486190-13486572	GM12878	blood:	n/a	chr6:13486336-13486352
11	BRCA1	chr6:13485959-13486471	Hela-S3	cervix:	n/a	n/a
12	CBX3	chr6:13486781-13487276	K562	blood:	n/a	n/a
13	CBX3	chr6:13486083-13486758	K562	blood:	n/a	n/a
14	CBX3	chr6:13487452-13487949	K562	blood:	n/a	n/a
15	CCNT2	chr6:13486483-13486682	K562	blood:	n/a	n/a
16	CCNT2	chr6:13488663-13488807	K562	blood:	n/a	n/a
17	CCNT2	chr6:13486929-13488181	K562	blood:	n/a	n/a
18	CEBPB	chr6:13488216-13488572	IMR90	lung:	n/a	n/a
19	CEBPB	chr6:13488217-13488597	K562	blood:	n/a	n/a
20	CEBPB	chr6:13488186-13488555	K562	blood:	n/a	n/a
21	CEBPB	chr6:13488103-13488550	A549	lung:	n/a	n/a
22	CEBPB	chr6:13486154-13487272	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr6:13488145-13488606	MCF-7	breast:	n/a	n/a
24	CEBPB	chr6:13487601-13487962	Hela-S3	cervix:	n/a	n/a
25	CEBPB	chr6:13486929-13487220	IMR90	lung:	n/a	n/a
26	CEBPB	chr6:13488219-13488589	HepG2	liver:	n/a	n/a
27	CEBPB	chr6:13488223-13488553	H1-hESC	embryonic stem cell:	n/a	n/a
28	CEBPB	chr6:13488222-13488530	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr6:13488214-13488567	HepG2	liver:	n/a	n/a
30	CEBPB	chr6:13488171-13488589	A549	lung:	n/a	n/a
31	CEBPB	chr6:13486936-13487242	K562	blood:	n/a	n/a
32	CHD1	chr6:13485653-13487078	GM12878	blood:	n/a	n/a
33	CHD1	chr6:13487529-13487578	H1-hESC	embryonic stem cell:	n/a	n/a
34	CHD2	chr6:13487678-13488232	GM12878	blood:	n/a	n/a
35	CHD2	chr6:13486967-13487197	GM12878	blood:	n/a	n/a
36	CHD2	chr6:13486273-13486697	K562	blood:	n/a	n/a
37	CHD2	chr6:13487051-13487125	HepG2	liver:	n/a	n/a
38	CHD2	chr6:13487684-13487873	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD2	chr6:13486965-13487165	K562	blood:	n/a	n/a
40	CHD2	chr6:13486173-13486687	GM12878	blood:	n/a	n/a
41	CHD2	chr6:13487527-13487880	HepG2	liver:	n/a	n/a
42	CHD2	chr6:13486187-13488238	Hela-S3	cervix:	n/a	n/a
43	CHD2	chr6:13487545-13487965	K562	blood:	n/a	n/a
44	CHD2	chr6:13486291-13486416	H1-hESC	embryonic stem cell:	n/a	n/a
45	CREB1	chr6:13486907-13487199	A549	lung:	n/a	n/a
46	CREB1	chr6:13487598-13488055	A549	lung:	n/a	n/a
47	CTCF	chr6:13486260-13486410	HepG2	liver:	n/a	n/a
48	CTCF	chr6:13486920-13487070	GM12864	blood:	n/a	n/a
49	CTCF	chr6:13487580-13487730	AoAF	blood vessel:	n/a	chr6:13487667-13487680
50	CTCF	chr6:13486894-13487106	GM12892	blood:	n/a	n/a

(count:1221 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:13486545-13486595	K562	blood:	n/a
2	chr6:13486545-13486595	K562	blood:	n/a
3	chr6:13489246-13489296	HMEC	breast:	n/a
4	chr6:13488167-13488217	MCF10A-Er-Src	breast:	n/a
5	chr6:13486545-13486595	ovcar-3	ovarian:	n/a
6	chr6:13489246-13489296	HAEpiC	amniotic membrane:	n/a
7	chr6:13487863-13487913	NT2-D1	testis:	n/a
8	chr6:13486415-13486465	A549	lung:	n/a
9	chr6:13486415-13486465	GM12878	blood:	n/a
10	chr6:13489248-13489298	AoSMC	blood vessel:	n/a
11	chr6:13486933-13486983	SAEC	small airway:	n/a
12	chr6:13487668-13487718	A549	lung:	n/a
13	chr6:13487668-13487718	HPAEpiC	pulmonary alveolar:	n/a
14	chr6:13486933-13486983	HAEpiC	amniotic membrane:	n/a
15	chr6:13486415-13486465	SK-N-SH_RA	brain:	n/a
16	chr6:13488257-13488307	SK-N-SH_RA	brain:	n/a
17	chr6:13487903-13487953	NHBE	bronchial:	n/a
18	chr6:13489248-13489298	HRPEpiC	eye:	n/a
19	chr6:13487863-13487913	HL-60	blood:	n/a
20	chr6:13488404-13488454	NHBE	bronchial:	n/a
21	chr6:13486249-13486299	HIPEpiC	eye:	n/a
22	chr6:13486545-13486595	H1-hESC	embryonic stem cell:	embryo
23	chr6:13487883-13487933	T-47D	breast:	n/a
24	chr6:13487662-13487712	HIPEpiC	eye:	n/a
25	chr6:13487903-13487953	PFSK-1	brain:	n/a
26	chr6:13487668-13487718	HEEpiC	esophagus:	n/a
27	chr6:13489248-13489298	CMK	blood:	n/a
28	chr6:13489246-13489296	HPAEpiC	pulmonary alveolar:	n/a
29	chr6:13487883-13487933	HCPEpiC	choroid plexus:	n/a
30	chr6:13487863-13487913	Hela-S3	cervix:	n/a
31	chr6:13486545-13486595	PFSK-1	brain:	n/a
32	chr6:13487863-13487913	AoSMC	blood vessel:	n/a
33	chr6:13486545-13486595	HNPCEpiC	eye:	n/a
34	chr6:13487903-13487953	HEEpiC	esophagus:	n/a
35	chr6:13488257-13488307	A549	lung:	n/a
36	chr6:13487879-13487929	HNPCEpiC	eye:	n/a
37	chr6:13487903-13487953	NB4	blood:	n/a
38	chr6:13489246-13489296	GM12878	blood:	n/a
39	chr6:13486339-13486389	HNPCEpiC	eye:	n/a
40	chr6:13487863-13487913	SAEC	small airway:	n/a
41	chr6:13486599-13486649	AG09309	skin:	n/a
42	chr6:13488404-13488454	HepG2	liver:	n/a
43	chr6:13487863-13487913	HCT-116	colon:	n/a
44	chr6:13487018-13487068	HEK293	kidney:	embryo
45	chr6:13486599-13486649	LNCaP	prostate:	n/a
46	chr6:13486545-13486595	LNCaP	prostate:	n/a
47	chr6:13488167-13488217	MCF-7	breast:	n/a
48	chr6:13486415-13486465	ProgFib	skin:	n/a
49	chr6:13487662-13487712	AG09319	gingival:	n/a
50	chr6:13487883-13487933	NB4	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr6:13487471..13489124-chr6:13489749..13491815,3	MCF-7	breast:
2	chr6:13484664..13490672-chr6:13572714..13577234,9	K562	blood:
3	chr6:13273285..13276286-chr6:13486162..13489029,4	K562	blood:
4	chr6:13471062..13472931-chr6:13486374..13489089,2	MCF-7	breast:
5	chr6:13486147..13488786-chr6:13613803..13616517,3	K562	blood:
6	chr6:13273285..13276286-chr6:13486162..13489029,3	K562	blood:
7	chr6:13326316..13328538-chr6:13485562..13488530,2	MCF-7	breast:
8	chr6:13328740..13330326-chr6:13487032..13488615,2	K562	blood:
9	chr6:13484393..13490113-chr6:13572102..13578017,14	MCF-7	breast:
10	chr6:13484080..13486133-chr6:13486417..13487997,2	MCF-7	breast:
11	chr6:13489026..13490564-chr6:13494155..13495687,2	K562	blood:
12	chr6:13488196..13489716-chr6:13537164..13538771,2	MCF-7	breast:
13	chr6:13465251..13472690-chr6:13481619..13489131,10	K562	blood:
14	chr6:13408139..13410381-chr6:13486541..13489029,3	MCF-7	breast:
15	chr6:13485388..13489511-chr6:13572660..13577514,13	MCF-7	breast:
16	chr6:13486545..13489203-chr6:13612282..13616748,6	MCF-7	breast:
17	chr6:13325999..13330365-chr6:13484429..13488653,6	MCF-7	breast:
18	chr6:13484642..13487748-chr6:13572714..13576594,3	K562	blood:
19	chr6:13486736..13489619-chr6:13614070..13616875,2	MCF-7	breast:
20	chr6:13413198..13414739-chr6:13489299..13490913,2	MCF-7	breast:
21	chr6:13468490..13471439-chr6:13483203..13485930,2	K562	blood:
22	chr6:13406818..13408886-chr6:13483840..13488220,5	MCF-7	breast:
23	chr6:13489525..13492132-chr6:13508702..13511366,2	MCF-7	breast:

No data

Variant related genes	Relation type
GFOD1-AS1	TF binding region
ENSG00000187461	TF binding region
GFOD1	TF binding region
GFOD1-AS1	CpG island
ENSG00000187461	CpG island
GFOD1	CpG island
ENSG00000145979	chromatin interactions
ENSG00000225921	chromatin interactions
ENSG00000261071	chromatin interactions
ENSG00000237786	chromatin interactions
ENSG00000145990	chromatin interactions
ENSG00000124523	chromatin interactions
ENSG00000215022	chromatin interactions

Extended variants
information (count: 132 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:132 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568366945	chr6:13485602-13485603	Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs537094025	chr6:13485637-13485638	Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs550550780	chr6:13485693-13485694	Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs148908470	chr6:13485700-13485701	Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs143595313	chr6:13485785-13485786	Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs9395818	chr6:13485787-13485788	Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs114722429	chr6:13485842-13485843	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs551371723	chr6:13485855-13485856	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs554908243	chr6:13485927-13485928	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs28718962	chr6:13485944-13485945	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs57591512	chr6:13485953-13485954	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs543484946	chr6:13485981-13485982	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs546936407	chr6:13486059-13486060	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs563279531	chr6:13486088-13486089	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs191723495	chr6:13486168-13486169	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs545906295	chr6:13486216-13486217	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs183574087	chr6:13486217-13486218	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs528664638	chr6:13486218-13486219	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs548370461	chr6:13486312-13486313	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs562084064	chr6:13486357-13486358	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs531092613	chr6:13486372-13486373	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs550725892	chr6:13486400-13486401	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs375547780	chr6:13486427-13486428	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs539413304	chr6:13486462-13486463	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs373896526	chr6:13486480-13486481	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs28392827	chr6:13486489-13486490	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs57203835	chr6:13486490-13486491	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs375882366	chr6:13486491-13486492	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs2494772	chr6:13486529-13486530	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs534864608	chr6:13486638-13486639	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs114976037	chr6:13486639-13486640	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs574822203	chr6:13486646-13486647	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs537322169	chr6:13486647-13486648	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs113737912	chr6:13486657-13486658	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs576789094	chr6:13486670-13486671	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs545441491	chr6:13486671-13486672	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs112913968	chr6:13486702-13486703	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs370271749	chr6:13486730-13486731	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs542051363	chr6:13486792-13486793	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs561922307	chr6:13486801-13486802	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs530980347	chr6:13486805-13486806	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs373410864	chr6:13486814-13486815	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs111276733	chr6:13486819-13486820	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs148309873	chr6:13486822-13486823	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs533368418	chr6:13486837-13486838	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs546677549	chr6:13486840-13486841	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs375888928	chr6:13486856-13486857	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs367719585	chr6:13486885-13486886	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs371504912	chr6:13486886-13486887	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs116041625	chr6:13486934-13486935	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
small cell lung cancer	20016488	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian cancer	21720365	CNVD
Cancer	21183584	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
abnormal development	18461090	CNVD
Cancer	16790693	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:616 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13469400-13485800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:13471000-13485600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:13471800-13485600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:13477600-13485800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:13481400-13485600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:13481400-13485600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr6:13481400-13486000	Weak transcription	Aorta	Aorta
8	chr6:13482600-13485800	Enhancers	Spleen	Spleen
9	chr6:13483200-13488800	Active TSS	Right Atrium	heart
10	chr6:13483400-13485600	Enhancers	Fetal Thymus	thymus
11	chr6:13483400-13486400	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr6:13483400-13487600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr6:13483600-13485600	Enhancers	Colon Smooth Muscle	Colon
14	chr6:13483600-13485600	Weak transcription	Esophagus	oesophagus
15	chr6:13483600-13485800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr6:13483800-13485600	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr6:13483800-13485600	Enhancers	Dnd41	blood
18	chr6:13483800-13485800	Enhancers	Primary B cells from peripheral blood	blood
19	chr6:13483800-13486000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr6:13484000-13485800	Weak transcription	Gastric	stomach
21	chr6:13484200-13485600	Flanking Active TSS	Fetal Brain Female	brain
22	chr6:13484200-13486000	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr6:13484200-13486000	Flanking Active TSS	HepG2	liver
24	chr6:13484200-13486000	Flanking Active TSS	K562	blood
25	chr6:13484200-13488600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr6:13484400-13485600	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr6:13484400-13485600	Enhancers	Brain Germinal Matrix	brain
28	chr6:13484400-13485800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:13484400-13485800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr6:13484400-13485800	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr6:13484400-13485800	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr6:13484400-13485800	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr6:13484400-13486200	Flanking Active TSS	Brain Cingulate Gyrus	brain
34	chr6:13484400-13486400	Flanking Active TSS	HUVEC	blood vessel
35	chr6:13484600-13485600	Enhancers	Primary B cells from cord blood	blood
36	chr6:13484600-13485600	Enhancers	Fetal Heart	heart
37	chr6:13484600-13485600	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr6:13484600-13485600	Enhancers	HMEC	breast
39	chr6:13484600-13486200	Flanking Active TSS	Brain Hippocampus Middle	brain
40	chr6:13484600-13487200	Flanking Active TSS	Liver	Liver
41	chr6:13484600-13488400	Active TSS	GM12878-XiMat	blood
42	chr6:13484800-13485600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr6:13484800-13485600	Weak transcription	Lung	lung
44	chr6:13484800-13485800	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr6:13484800-13486200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr6:13484800-13486200	Flanking Active TSS	NHEK	skin
47	chr6:13484800-13486400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr6:13484800-13487200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr6:13484800-13488400	Active TSS	Right Ventricle	heart
50	chr6:13485000-13485600	Flanking Bivalent TSS/Enh	Fetal Lung	lung

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