Variant report

Variant	esv2763988
Chromosome Location	chr6:56913072-56952630
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:268)
CpG islands
(count:183)
Chromatin interactive
region (count:64)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:268 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:56934202-56935050	K562	blood:	n/a	n/a
2	ARID3A	chr6:56951602-56951813	HepG2	liver:	n/a	n/a
3	ATF1	chr6:56937029-56937237	K562	blood:	n/a	n/a
4	BHLHE40	chr6:56934811-56934994	K562	blood:	n/a	n/a
5	CBX3	chr6:56934707-56935238	K562	blood:	n/a	n/a
6	CBX3	chr6:56934424-56935344	K562	blood:	n/a	n/a
7	CCNT2	chr6:56932968-56933212	K562	blood:	n/a	n/a
8	CCNT2	chr6:56934831-56935079	K562	blood:	n/a	n/a
9	CEBPB	chr6:56920848-56921032	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr6:56951654-56951904	HepG2	liver:	n/a	n/a
11	CEBPB	chr6:56920841-56921003	A549	lung:	n/a	n/a
12	CEBPD	chr6:56934640-56935189	K562	blood:	n/a	n/a
13	CHD2	chr6:56952604-56953056	K562	blood:	n/a	n/a
14	CHD2	chr6:56934827-56935012	K562	blood:	n/a	n/a
15	CHD2	chr6:56934853-56935158	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr6:56944691-56944726	MCF-7	breast:	n/a	n/a
17	CTCF	chr6:56933480-56933630	AoAF	blood vessel:	n/a	n/a
18	CTCF	chr6:56940092-56940170	GM12878	blood:	n/a	n/a
19	CTCF	chr6:56940078-56940190	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr6:56940114-56940142	K562	blood:	n/a	n/a
21	CTCF	chr6:56940000-56940150	HCM	heart:	n/a	n/a
22	CTCF	chr6:56940020-56940170	AG10803	skin:	n/a	n/a
23	CTCF	chr6:56939980-56940130	AG04450	lung:	n/a	n/a
24	CTCF	chr6:56940060-56940210	HPAF	blood vessel:	n/a	n/a
25	CTCF	chr6:56921395-56921466	GM10248	blood:	n/a	n/a
26	CTCF	chr6:56940093-56940133	GM12878	blood:	n/a	n/a
27	CTCF	chr6:56940200-56940350	Caco-2	colon:	n/a	n/a
28	CTCF	chr6:56914480-56914630	AG10803	skin:	n/a	n/a
29	CTCF	chr6:56939840-56939990	GM12873	blood:	n/a	n/a
30	CTCF	chr6:56939980-56940130	HMEC	breast:	n/a	n/a
31	CTCF	chr6:56940020-56940170	HMF	breast:	n/a	n/a
32	CTCF	chr6:56940053-56940167	HUVEC	blood vessel:	n/a	n/a
33	CTCF	chr6:56928850-56928925	GM13976	blood:	n/a	n/a
34	CTCF	chr6:56940060-56940210	HCPEpiC	choroid plexus:	n/a	n/a
35	CUX1	chr6:56917688-56917728	K562	blood:	n/a	n/a
36	CUX1	chr6:56933952-56934402	K562	blood:	n/a	n/a
37	CUX1	chr6:56913051-56913669	K562	blood:	n/a	n/a
38	E2F4	chr6:56939973-56940173	MCF10A-Er-Src	breast:	n/a	n/a
39	E2F4	chr6:56946744-56946875	MCF10A-Er-Src	breast:	n/a	n/a
40	E2F4	chr6:56943004-56943536	MCF10A-Er-Src	breast:	n/a	n/a
41	EGR1	chr6:56952169-56952378	K562	blood:	n/a	n/a
42	EP300	chr6:56934647-56935105	K562	blood:	n/a	n/a
43	EP300	chr6:56951643-56951766	HepG2	liver:	n/a	n/a
44	EP300	chr6:56951570-56951978	HepG2	liver:	n/a	n/a
45	FAM48A	chr6:56918411-56918469	GM12878	blood:	n/a	n/a
46	FOS	chr6:56913450-56913768	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr6:56913488-56913688	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr6:56913454-56913731	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr6:56950255-56950617	HUVEC	blood vessel:	n/a	n/a
50	FOS	chr6:56913416-56913757	MCF10A-Er-Src	breast:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:56934764-56934814	HUVEC	blood vessel:	n/a
2	chr6:56952208-56952258	HPAEpiC	pulmonary alveolar:	n/a
3	chr6:56915755-56915805	H1-hESC	embryonic stem cell:	embryo
4	chr6:56934764-56934814	PrEC	prostate:	n/a
5	chr6:56952208-56952258	K562	blood:	n/a
6	chr6:56952208-56952258	HEEpiC	esophagus:	n/a
7	chr6:56952208-56952258	HRE	kidney:	n/a
8	chr6:56915755-56915805	NHBE	bronchial:	n/a
9	chr6:56915755-56915805	PFSK-1	brain:	n/a
10	chr6:56934764-56934814	HCT-116	colon:	n/a
11	chr6:56934764-56934814	AG04450	lung:	fetal
12	chr6:56915755-56915805	HCPEpiC	choroid plexus:	n/a
13	chr6:56934764-56934814	BE2_C	brain:	n/a
14	chr6:56934764-56934814	HCF	heart:	n/a
15	chr6:56952208-56952258	T-47D	breast:	n/a
16	chr6:56915755-56915805	HPAEpiC	pulmonary alveolar:	n/a
17	chr6:56952208-56952258	HCF	heart:	n/a
18	chr6:56952208-56952258	HNPCEpiC	eye:	n/a
19	chr6:56934764-56934814	AG10803	skin:	n/a
20	chr6:56934764-56934814	CMK	blood:	n/a
21	chr6:56952208-56952258	A549	lung:	n/a
22	chr6:56915755-56915805	MCF-7	breast:	n/a
23	chr6:56952208-56952258	HRPEpiC	eye:	n/a
24	chr6:56934764-56934814	ECC-1	luminal epithelium:	n/a
25	chr6:56934764-56934814	U87	brain:	n/a
26	chr6:56934764-56934814	H1-hESC	embryonic stem cell:	embryo
27	chr6:56934764-56934814	MCF10A-Er-Src	breast:	n/a
28	chr6:56952208-56952258	H1-hESC	embryonic stem cell:	embryo
29	chr6:56934764-56934814	SK-N-SH_RA	brain:	n/a
30	chr6:56934764-56934814	SK-N-SH	brain:	n/a
31	chr6:56952208-56952258	Hepatocyte	liver:	n/a
32	chr6:56915755-56915805	HEK293	kidney:	embryo
33	chr6:56952208-56952258	HepG2	liver:	n/a
34	chr6:56952208-56952258	SAEC	small airway:	n/a
35	chr6:56915755-56915805	GM19239	blood:	n/a
36	chr6:56952208-56952258	HAEpiC	amniotic membrane:	n/a
37	chr6:56915755-56915805	HCF	heart:	n/a
38	chr6:56915755-56915805	HL-60	blood:	n/a
39	chr6:56915755-56915805	AG09309	skin:	n/a
40	chr6:56915755-56915805	GM06990	blood:	n/a
41	chr6:56952208-56952258	ECC-1	luminal epithelium:	n/a
42	chr6:56934764-56934814	MCF-7	breast:	n/a
43	chr6:56952208-56952258	GM12892	blood:	n/a
44	chr6:56915755-56915805	HRPEpiC	eye:	n/a
45	chr6:56952208-56952258	SKMC	muscle:	n/a
46	chr6:56934764-56934814	AG09309	skin:	n/a
47	chr6:56952208-56952258	SK-N-SH	brain:	n/a
48	chr6:56952208-56952258	HIPEpiC	eye:	n/a
49	chr6:56915755-56915805	CMK	blood:	n/a
50	chr6:56952208-56952258	HMEC	breast:	n/a

(count:64 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr6:56952370..56954266-chr6:56971549..56974496,2	K562	blood:
2	chr6:56925002..56928122-chr6:56956641..56958794,3	K562	blood:
3	chr6:56820330..56821970-chr6:56922226..56924549,2	MCF-7	breast:
4	chr6:56934363..56937335-chr6:56939839..56941721,2	K562	blood:
5	chr6:56916177..56920569-chr6:56928731..56932543,4	K562	blood:
6	chr6:56914118..56915699-chr6:56999791..57001754,2	K562	blood:
7	chr6:56913918..56916785-chr6:56951953..56954824,2	K562	blood:
8	chr6:56818841..56821468-chr6:56915321..56916838,2	K562	blood:
9	chr6:56917795..56920630-chr6:57180705..57182325,2	K562	blood:
10	chr6:56934993..56938147-chr6:56946387..56949781,3	K562	blood:
11	chr6:56913257..56915032-chr6:56957847..56960567,2	K562	blood:
12	chr6:56916004..56918245-chr6:56961868..56964513,2	K562	blood:
13	chr6:56926145..56928698-chr6:56928741..56930735,2	K562	blood:
14	chr6:56923126..56925148-chr6:56926717..56929557,2	K562	blood:
15	chr6:56926145..56928698-chr6:56928741..56930735,2	K562	blood:
16	chr6:56934363..56937335-chr6:56939839..56941721,2	K562	blood:
17	chr6:56810289..56813154-chr6:56935958..56938230,2	K562	blood:
18	chr6:56918758..56920870-chr6:56963743..56966191,2	K562	blood:
19	chr6:56927166..56929779-chr6:56933810..56935740,2	K562	blood:
20	chr6:56932277..56934090-chr6:56953259..56955727,2	K562	blood:
21	chr6:56921585..56925316-chr6:56953149..56956196,3	K562	blood:
22	chr6:56947111..56950590-chr6:56951597..56954777,4	K562	blood:
23	chr6:56825122..56826633-chr6:56914497..56917347,2	K562	blood:
24	chr6:56923524..56925614-chr6:56931243..56933274,4	K562	blood:
25	chr6:56951936..56954342-chr6:57037762..57039413,2	K562	blood:
26	chr6:56938112..56940287-chr6:56942414..56944879,2	K562	blood:
27	chr6:56916177..56920569-chr6:56928731..56932543,4	K562	blood:
28	chr6:56922057..56924606-chr6:56948935..56951411,2	K562	blood:
29	chr6:56923126..56925148-chr6:56926717..56929557,2	K562	blood:
30	chr6:56921296..56922796-chr6:56924652..56926285,2	K562	blood:
31	chr6:56915285..56917607-chr6:56951882..56953453,2	K562	blood:
32	chr6:56911298..56913104-chr6:56932457..56934576,2	K562	blood:
33	chr6:56918320..56920643-chr6:56931353..56933540,2	K562	blood:
34	chr6:56883885..56886114-chr6:56933093..56934957,2	K562	blood:
35	chr6:56921415..56923823-chr6:56954797..56956422,2	MCF-7	breast:
36	chr6:56934993..56938147-chr6:56946387..56949781,3	K562	blood:
37	chr6:56927166..56931144-chr6:56933264..56935740,4	K562	blood:
38	chr6:56772967..56775962-chr6:56913388..56915663,2	K562	blood:
39	chr6:56815308..56817719-chr6:56918047..56920182,2	K562	blood:
40	chr6:56921296..56922796-chr6:56924652..56926285,2	K562	blood:
41	chr6:56915285..56917607-chr6:56951882..56953453,2	K562	blood:
42	chr6:56948909..56950719-chr6:56952712..56954669,2	K562	blood:
43	chr6:56927166..56929779-chr6:56933810..56935740,2	K562	blood:
44	chr6:56927166..56931144-chr6:56933264..56935740,4	K562	blood:
45	chr6:56927954..56930508-chr6:56970554..56972166,2	K562	blood:
46	chr6:56818175..56820082-chr6:56931609..56933583,2	K562	blood:
47	chr6:56910595..56916200-chr6:57035587..57038867,7	K562	blood:
48	chr6:56935225..56943628-chr6:56947006..56954759,13	K562	blood:
49	chr6:56885077..56887433-chr6:56918362..56920349,2	K562	blood:
50	chr6:56922057..56924606-chr6:56948935..56951411,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KIAA1586-1	chr6:56931260-56931740	NONHSAT113257
2	lnc-KIAA1586-1	chr6:56924096-56924235	NONHSAT113257
3	lnc-KIAA1586-1	chr6:56932571-56933175	NONHSAT113257

No data

(count:2 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	KIAA1586	hsa-miR-340-5p	chr6:56919709-56919715
2	KIAA1586	hsa-miR-340-5p	chr6:56919696-56919716

Variant related genes	Relation type
ZNF451	TF binding region
ZNF451	CpG island
ENSG00000151914	chromatin interactions
ENSG00000235415	chromatin interactions
ENSG00000168116	chromatin interactions
ENSG00000112208	chromatin interactions
ENSG00000112200	chromatin interactions
ENSG00000200224	chromatin interactions
ENSG00000226803	chromatin interactions
ENSG00000151917	chromatin interactions

Extended variants
information (count: 1309 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1309 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12190416	chr6:56913072-56913073	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs190969750	chr6:56913133-56913134	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs182438166	chr6:56913177-56913178	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs573864639	chr6:56913201-56913202	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs540305673	chr6:56913264-56913265	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs78751665	chr6:56913280-56913281	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs373735996	chr6:56913368-56913369	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs187094753	chr6:56913405-56913406	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs189917835	chr6:56913421-56913422	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs7740767	chr6:56913453-56913454	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs143512458	chr6:56913473-56913474	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs182912547	chr6:56913506-56913507	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs560523855	chr6:56913573-56913574	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs527822813	chr6:56913581-56913582	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs549454332	chr6:56913630-56913631	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs145446359	chr6:56913636-56913637	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs148407197	chr6:56913651-56913652	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs187335969	chr6:56913660-56913661	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs113378703	chr6:56913671-56913672	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs539297915	chr6:56913697-56913698	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs562537804	chr6:56913717-56913718	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs566451134	chr6:56913726-56913727	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs142542701	chr6:56913851-56913852	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs185589035	chr6:56913920-56913921	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs114843033	chr6:56913990-56913991	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs187704624	chr6:56913993-56913994	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs114144512	chr6:56914001-56914002	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs150958763	chr6:56914009-56914010	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs545278909	chr6:56914017-56914018	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs560332073	chr6:56914071-56914072	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs527639514	chr6:56914187-56914188	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs542763183	chr6:56914274-56914275	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs142116778	chr6:56914275-56914276	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs147086446	chr6:56914423-56914424	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs550425917	chr6:56914459-56914460	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs562702178	chr6:56914465-56914466	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs72865278	chr6:56914472-56914473	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs532732229	chr6:56914576-56914577	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs367613963	chr6:56914634-56914635	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs147729054	chr6:56914655-56914656	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs544812631	chr6:56914663-56914664	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs566345919	chr6:56914698-56914699	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs192742022	chr6:56914718-56914719	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs142613967	chr6:56914743-56914744	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs551219566	chr6:56914784-56914785	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs62415860	chr6:56914810-56914811	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs527405783	chr6:56914825-56914826	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs546964278	chr6:56914828-56914829	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs73467894	chr6:56914840-56914841	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs537535946	chr6:56914842-56914843	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	5 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:959 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56911600-56913200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:56911600-56915400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr6:56911600-56916400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr6:56911600-56916400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr6:56911600-56920800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:56911600-56920800	Weak transcription	Aorta	Aorta
7	chr6:56911600-56925000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:56911600-56935200	Weak transcription	Gastric	stomach
9	chr6:56911600-56939800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr6:56911800-56913200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr6:56911800-56914800	Weak transcription	Fetal Thymus	thymus
12	chr6:56911800-56915200	Weak transcription	Fetal Intestine Large	intestine
13	chr6:56911800-56915200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr6:56911800-56915200	Weak transcription	Left Ventricle	heart
15	chr6:56911800-56915400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr6:56911800-56915400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr6:56911800-56915600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr6:56911800-56915600	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr6:56911800-56915800	Weak transcription	Lung	lung
20	chr6:56911800-56916400	Weak transcription	Fetal Muscle Leg	muscle
21	chr6:56911800-56916400	Weak transcription	Pancreas	Pancrea
22	chr6:56911800-56916400	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr6:56911800-56922200	Weak transcription	Right Ventricle	heart
24	chr6:56911800-56924200	Weak transcription	Colonic Mucosa	Colon
25	chr6:56911800-56930800	Weak transcription	Psoas Muscle	Psoas
26	chr6:56911800-56934200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr6:56911800-56936200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr6:56911800-56943000	Weak transcription	Esophagus	oesophagus
29	chr6:56912800-56913200	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr6:56912800-56913200	Active TSS	H1 Cell Line	embryonic stem cell
31	chr6:56912800-56913200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr6:56912800-56913200	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr6:56912800-56913200	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr6:56912800-56913200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr6:56912800-56913200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr6:56912800-56913200	Enhancers	Primary T cells fromperipheralblood	blood
37	chr6:56912800-56913200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr6:56912800-56913200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr6:56912800-56913200	Enhancers	Adipose Nuclei	Adipose
40	chr6:56912800-56913200	Enhancers	Liver	Liver
41	chr6:56912800-56913200	Flanking Active TSS	Brain Angular Gyrus	brain
42	chr6:56912800-56913200	Flanking Active TSS	Colon Smooth Muscle	Colon
43	chr6:56912800-56913200	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr6:56912800-56913200	Flanking Active TSS	Thymus	Thymus
45	chr6:56912800-56913200	Flanking Active TSS	Osteobl	bone
46	chr6:56912800-56913400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr6:56912800-56913400	Enhancers	Primary B cells from cord blood	blood
48	chr6:56912800-56913400	Enhancers	Primary B cells from peripheral blood	blood
49	chr6:56912800-56913400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr6:56912800-56913400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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