Variant report

Variant	esv3387792
Chromosome Location	chr6:82460658-82463206
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:863)
CpG islands
(count:858)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:863 , 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	chr6:82462253-82462778	HepG2	liver:	n/a	n/a
2	ARID3A	chr6:82463088-82463381	HepG2	liver:	n/a	n/a
3	ATF1	chr6:82460474-82460709	K562	blood:	n/a	n/a
4	BACH1	chr6:82462186-82463938	H1-hESC	embryonic stem cell:	n/a	n/a
5	BATF	chr6:82462023-82462258	GM12878	blood:	n/a	n/a
6	BHLHE40	chr6:82461208-82463938	HepG2	liver:	n/a	chr6:82462214-82462230
7	BHLHE40	chr6:82461306-82461383	K562	blood:	n/a	n/a
8	BHLHE40	chr6:82462288-82462626	A549	lung:	n/a	n/a
9	BHLHE40	chr6:82462843-82463260	HepG2	liver:	n/a	n/a
10	BHLHE40	chr6:82461684-82464009	K562	blood:	n/a	chr6:82462214-82462230
11	BHLHE40	chr6:82462011-82463926	GM12878	blood:	n/a	chr6:82462214-82462230
12	BHLHE40	chr6:82462261-82462613	HepG2	liver:	n/a	n/a
13	BHLHE40	chr6:82462321-82462563	HepG2	liver:	n/a	n/a
14	BHLHE40	chr6:82462893-82463405	A549	lung:	n/a	n/a
15	BRCA1	chr6:82463136-82463275	HepG2	liver:	n/a	n/a
16	BRCA1	chr6:82460137-82461645	Hela-S3	cervix:	n/a	n/a
17	BRCA1	chr6:82461410-82461437	HepG2	liver:	n/a	n/a
18	BRCA1	chr6:82461999-82463924	Hela-S3	cervix:	n/a	n/a
19	CBX3	chr6:82462997-82463416	K562	blood:	n/a	n/a
20	CBX3	chr6:82462294-82462729	K562	blood:	n/a	n/a
21	CBX3	chr6:82461307-82461565	K562	blood:	n/a	n/a
22	CCNT2	chr6:82461948-82463294	K562	blood:	n/a	chr6:82461989-82461998
23	CEBPB	chr6:82461526-82461811	HepG2	liver:	n/a	n/a
24	CEBPB	chr6:82461478-82461886	HepG2	liver:	n/a	n/a
25	CEBPB	chr6:82461453-82461821	HepG2	liver:	n/a	n/a
26	CEBPB	chr6:82461520-82461854	A549	lung:	n/a	n/a
27	CEBPB	chr6:82461440-82462274	H1-hESC	embryonic stem cell:	n/a	n/a
28	CEBPB	chr6:82461450-82462037	MCF-7	breast:	n/a	n/a
29	CEBPB	chr6:82461513-82461883	K562	blood:	n/a	n/a
30	CEBPB	chr6:82461381-82461880	IMR90	lung:	n/a	n/a
31	CEBPB	chr6:82461443-82461936	A549	lung:	n/a	n/a
32	CEBPB	chr6:82460488-82464364	Hela-S3	cervix:	n/a	n/a
33	CEBPB	chr6:82461296-82461899	HepG2	liver:	n/a	n/a
34	CEBPD	chr6:82462198-82462715	HepG2	liver:	n/a	n/a
35	CEBPD	chr6:82461460-82461790	HepG2	liver:	n/a	n/a
36	CEBPD	chr6:82462861-82463391	HepG2	liver:	n/a	n/a
37	CHD1	chr6:82462046-82463222	GM12878	blood:	n/a	chr6:82463141-82463151
38	CHD1	chr6:82461398-82461464	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD2	chr6:82462915-82463273	GM12878	blood:	n/a	chr6:82463141-82463151
40	CHD2	chr6:82462385-82463320	K562	blood:	n/a	chr6:82463141-82463151
41	CHD2	chr6:82461819-82462839	H1-hESC	embryonic stem cell:	n/a	n/a
42	CHD2	chr6:82461322-82461714	HepG2	liver:	n/a	n/a
43	CHD2	chr6:82462033-82462696	GM12878	blood:	n/a	n/a
44	CHD2	chr6:82462005-82463884	HepG2	liver:	n/a	chr6:82463141-82463151
45	CHD2	chr6:82461248-82463912	Hela-S3	cervix:	n/a	chr6:82463141-82463151
46	CREB1	chr6:82462914-82463339	H1-hESC	embryonic stem cell:	n/a	n/a
47	CREB1	chr6:82462958-82463230	A549	lung:	n/a	n/a
48	CREB1	chr6:82462863-82463390	K562	blood:	n/a	n/a
49	CREB1	chr6:82462750-82463361	A549	lung:	n/a	n/a
50	CREB1	chr6:82462885-82463315	H1-hESC	embryonic stem cell:	n/a	n/a

(count:858 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:82462448-82462498	H1-hESC	embryonic stem cell:	embryo
2	chr6:82462253-82462303	HIPEpiC	eye:	n/a
3	chr6:82462460-82462510	AoSMC	blood vessel:	n/a
4	chr6:82461261-82461311	H1-hESC	embryonic stem cell:	embryo
5	chr6:82462448-82462498	H1-hESC	embryonic stem cell:	embryo
6	chr6:82462253-82462303	HIPEpiC	eye:	n/a
7	chr6:82462460-82462510	AoSMC	blood vessel:	n/a
8	chr6:82461261-82461311	H1-hESC	embryonic stem cell:	embryo
9	chr6:82462946-82462996	ProgFib	skin:	n/a
10	chr6:82461423-82461473	HEK293	kidney:	embryo
11	chr6:82462656-82462706	HL-60	blood:	n/a
12	chr6:82462442-82462492	HPAEpiC	pulmonary alveolar:	n/a
13	chr6:82462253-82462303	LNCaP	prostate:	n/a
14	chr6:82462442-82462492	HRE	kidney:	n/a
15	chr6:82461423-82461473	HAEpiC	amniotic membrane:	n/a
16	chr6:82462430-82462480	SK-N-SH_RA	brain:	n/a
17	chr6:82461261-82461311	HRCEpiC	kidney:	n/a
18	chr6:82462465-82462515	ovcar-3	ovarian:	n/a
19	chr6:82462448-82462498	SK-N-SH_RA	brain:	n/a
20	chr6:82462465-82462515	AG09309	skin:	n/a
21	chr6:82463023-82463073	SK-N-SH_RA	brain:	n/a
22	chr6:82461423-82461473	HPAEpiC	pulmonary alveolar:	n/a
23	chr6:82462946-82462996	Hepatocyte	liver:	n/a
24	chr6:82462946-82462996	SK-N-SH_RA	brain:	n/a
25	chr6:82461874-82461924	AG09309	skin:	n/a
26	chr6:82462656-82462706	SKMC	muscle:	n/a
27	chr6:82463023-82463073	BE2_C	brain:	n/a
28	chr6:82462946-82462996	HIPEpiC	eye:	n/a
29	chr6:82462465-82462515	Caco-2	colon:	n/a
30	chr6:82462253-82462303	PrEC	prostate:	n/a
31	chr6:82462460-82462510	SK-N-SH_RA	brain:	n/a
32	chr6:82462448-82462498	HCM	heart:	n/a
33	chr6:82462460-82462510	MCF10A-Er-Src	breast:	n/a
34	chr6:82462746-82462796	HEK293	kidney:	embryo
35	chr6:82461261-82461311	NB4	blood:	n/a
36	chr6:82461261-82461311	BE2_C	brain:	n/a
37	chr6:82462460-82462510	HUVEC	blood vessel:	n/a
38	chr6:82462577-82462627	HepG2	liver:	n/a
39	chr6:82462746-82462796	SK-N-MC	brain:	n/a
40	chr6:82461261-82461311	PANC-1	pancreas:	n/a
41	chr6:82462746-82462796	HRE	kidney:	n/a
42	chr6:82462946-82462996	Hela-S3	cervix:	n/a
43	chr6:82461261-82461311	HIPEpiC	eye:	n/a
44	chr6:82462465-82462515	U87	brain:	n/a
45	chr6:82462442-82462492	CMK	blood:	n/a
46	chr6:82462460-82462510	HRPEpiC	eye:	n/a
47	chr6:82462577-82462627	A549	lung:	n/a
48	chr6:82462577-82462627	HCPEpiC	choroid plexus:	n/a
49	chr6:82462448-82462498	GM06990	blood:	n/a
50	chr6:82462442-82462492	AG09319	gingival:	n/a

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:55518369..55519202-chr6:82462483..82463210,2	MCF-7	breast:
2	chr19:46087297..46088281-chr6:82462926..82463663,2	Hela-S3	cervix:
3	chr6:82442487..82447325-chr6:82460557..82464499,4	MCF-7	breast:
4	chr6:82458586..82464036-chr6:82521971..82527096,10	MCF-7	breast:
5	chr6:82460974..82462600-chr6:82462862..82465835,2	K562	blood:
6	chr6:82460615..82464438-chr6:82472382..82478506,11	MCF-7	breast:
7	chr1:228593963..228594596-chr6:82462557..82463188,2	Hela-S3	cervix:
8	chr6:82444036..82446124-chr6:82461824..82463770,2	MCF-7	breast:
9	chr13:21140518..21141469-chr6:82462071..82462930,2	NB4	blood:
10	chr6:82462024..82463020-chr7:102105257..102105953,2	NB4	blood:
11	chr3:25824674..25825403-chr6:82462445..82462957,2	Hela-S3	cervix:
12	chr2:64067578..64068085-chr6:82461932..82462790,2	NB4	blood:
13	chr6:82462433..82465260-chr6:82471408..82474584,3	K562	blood:
14	chr6:82461838..82462380-chr6:86388039..86389030,2	Hela-S3	cervix:
15	chr16:56965510..56966488-chr6:82461918..82462677,2	Hela-S3	cervix:
16	chr15:50275991..50276690-chr6:82462543..82463331,2	NB4	blood:
17	chr12:11802189..11802963-chr6:82462824..82463649,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
FAM46A	TF binding region
FAM46A	CpG island
ENSG00000161036	chromatin interactions
ENSG00000151092	chromatin interactions
ENSG00000224995	chromatin interactions
ENSG00000112773	chromatin interactions
ENSG00000154370	chromatin interactions
ENSG00000168175	chromatin interactions
ENSG00000219702	chromatin interactions
ENSG00000203875	chromatin interactions
ENSG00000051108	chromatin interactions
ENSG00000169764	chromatin interactions
ENSG00000032742	chromatin interactions
ENSG00000160993	chromatin interactions
ENSG00000125741	chromatin interactions
ENSG00000139083	chromatin interactions
ENSG00000206886	chromatin interactions
ENSG00000232031	chromatin interactions

Extended variants
information (count: 128 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:128 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555384168	chr6:82460713-82460714	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs78124284	chr6:82460725-82460726	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs181818232	chr6:82460734-82460735	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs118172700	chr6:82460760-82460761	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs565392111	chr6:82460788-82460789	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs560492769	chr6:82460791-82460792	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs145742153	chr6:82460809-82460810	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs186849722	chr6:82460813-82460814	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs146571120	chr6:82460823-82460824	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs562999132	chr6:82460826-82460827	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs536663195	chr6:82460837-82460838	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs190163339	chr6:82460838-82460839	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs562263857	chr6:82460909-82460910	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs375738810	chr6:82460925-82460926	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs140359662	chr6:82460935-82460936	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs17661047	chr6:82460943-82460944	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs112200813	chr6:82460950-82460951	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs150354370	chr6:82460992-82460993	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs533562423	chr6:82461032-82461033	Bivalent/Poised TSS Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs549649627	chr6:82461060-82461061	Bivalent/Poised TSS Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs569692396	chr6:82461065-82461066	Bivalent/Poised TSS Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs112923873	chr6:82461090-82461091	Bivalent/Poised TSS Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs535107523	chr6:82461100-82461101	Bivalent/Poised TSS Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs548936450	chr6:82461155-82461156	Bivalent/Poised TSS Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs9341898	chr6:82461166-82461167	Bivalent/Poised TSS Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs182392570	chr6:82461182-82461183	Bivalent/Poised TSS Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs149537489	chr6:82461237-82461238	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs577463790	chr6:82461246-82461247	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs537245409	chr6:82461249-82461250	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs201145878	chr6:82461269-82461270	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs185086412	chr6:82461282-82461283	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs75207242	chr6:82461296-82461297	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs143180222	chr6:82461360-82461361	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs112399890	chr6:82461364-82461365	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs189896312	chr6:82461392-82461393	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs1046635	chr6:82461402-82461403	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs376077710	chr6:82461424-82461425	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs371167602	chr6:82461430-82461431	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs374405669	chr6:82461435-82461436	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs541788587	chr6:82461451-82461452	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs138694074	chr6:82461465-82461466	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs147316162	chr6:82461493-82461494	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs533365851	chr6:82461508-82461509	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs3186631	chr6:82461520-82461521	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs144803443	chr6:82461524-82461525	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs147598471	chr6:82461538-82461539	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs149057437	chr6:82461610-82461611	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs368900766	chr6:82461616-82461617	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs142086743	chr6:82461623-82461624	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs528954747	chr6:82461631-82461632	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	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
Ependymoma	16718352	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
Prostate cancer	16573809	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Ductal carcinoma	22052326	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	20164919	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:82455200-82464000	Active TSS	Right Ventricle	heart
2	chr6:82456000-82461000	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr6:82456400-82464000	Active TSS	Right Atrium	heart
4	chr6:82458400-82464600	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr6:82458600-82461400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr6:82458600-82461600	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:82458600-82461600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr6:82458600-82461600	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr6:82458600-82463800	Active TSS	Stomach Smooth Muscle	stomach
10	chr6:82458800-82460800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr6:82458800-82461600	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr6:82458800-82463800	Active TSS	Brain Anterior Caudate	brain
13	chr6:82458800-82463800	Active TSS	Colon Smooth Muscle	Colon
14	chr6:82459000-82463400	Active TSS	Colonic Mucosa	Colon
15	chr6:82459000-82464400	Active TSS	Stomach Mucosa	stomach
16	chr6:82459200-82464600	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr6:82459400-82461400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr6:82459400-82461400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr6:82459400-82463800	Active TSS	Lung	lung
20	chr6:82459600-82461000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr6:82459600-82461800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr6:82459600-82463800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr6:82459600-82464000	Active TSS	Rectal Smooth Muscle	rectum
24	chr6:82459800-82461200	Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr6:82459800-82461400	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr6:82459800-82462800	Bivalent/Poised TSS	Thymus	Thymus
27	chr6:82459800-82463800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:82459800-82463800	Active TSS	Aorta	Aorta
29	chr6:82459800-82463800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr6:82459800-82463800	Active TSS	Brain Substantia Nigra	brain
31	chr6:82459800-82464000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
32	chr6:82459800-82464200	Active TSS	Placenta Amnion	Placenta Amnion
33	chr6:82459800-82464200	Active TSS	HSMM	muscle
34	chr6:82459800-82464200	Active TSS	NHLF	lung
35	chr6:82460000-82460800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr6:82460000-82461000	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr6:82460000-82461000	Active TSS	Fetal Muscle Trunk	muscle
38	chr6:82460000-82461000	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
39	chr6:82460000-82461200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr6:82460000-82461200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr6:82460000-82461200	Active TSS	Fetal Stomach	stomach
42	chr6:82460000-82461200	Active TSS	HepG2	liver
43	chr6:82460000-82461400	Bivalent/Poised TSS	GM12878-XiMat	blood
44	chr6:82460000-82462000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr6:82460000-82463400	Active TSS	Muscle Satellite Cultured Cells	--
46	chr6:82460000-82463400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr6:82460000-82463400	Active TSS	Placenta	Placenta
48	chr6:82460000-82463400	Active TSS	Rectal Mucosa Donor 31	rectum
49	chr6:82460000-82463400	Active TSS	NH-A	brain
50	chr6:82460000-82463600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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