Variant report

Variant	nsv885913
Chromosome Location	chr6:56910884-56954439
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:923)
CpG islands
(count:795)
Chromatin interactive
region (count:74)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:923 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:56911149-56911461	K562	blood:	n/a	n/a
2	ARID3A	chr6:56911082-56911520	HepG2	liver:	n/a	n/a
3	ARID3A	chr6:56951602-56951813	HepG2	liver:	n/a	n/a
4	ARID3A	chr6:56934202-56935050	K562	blood:	n/a	n/a
5	ATF1	chr6:56937029-56937237	K562	blood:	n/a	n/a
6	ATF1	chr6:56954345-56955010	K562	blood:	n/a	n/a
7	ATF2	chr6:56954421-56955059	GM12878	blood:	n/a	n/a
8	ATF2	chr6:56911218-56911513	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr6:56911100-56911606	GM12878	blood:	n/a	n/a
10	BACH1	chr6:56910977-56911452	K562	blood:	n/a	n/a
11	BACH1	chr6:56911052-56911570	H1-hESC	embryonic stem cell:	n/a	n/a
12	BATF	chr6:56911829-56912338	GM12878	blood:	n/a	n/a
13	BATF	chr6:56912396-56912692	GM12878	blood:	n/a	n/a
14	BATF	chr6:56911471-56911755	GM12878	blood:	n/a	n/a
15	BCL11A	chr6:56911432-56912113	GM12878	blood:	n/a	chr6:56911793-56911806
16	BCL3	chr6:56954430-56955027	K562	blood:	n/a	n/a
17	BCLAF1	chr6:56954392-56955175	GM12878	blood:	n/a	n/a
18	BCLAF1	chr6:56910944-56911564	GM12878	blood:	n/a	n/a
19	BCLAF1	chr6:56911067-56911571	GM12878	blood:	n/a	n/a
20	BCLAF1	chr6:56954356-56954969	K562	blood:	n/a	n/a
21	BHLHE40	chr6:56911194-56911592	HepG2	liver:	n/a	n/a
22	BHLHE40	chr6:56911227-56911575	GM12878	blood:	n/a	n/a
23	BHLHE40	chr6:56954343-56955004	K562	blood:	n/a	chr6:56954714-56954730
24	BHLHE40	chr6:56934811-56934994	K562	blood:	n/a	n/a
25	BHLHE40	chr6:56911168-56911584	K562	blood:	n/a	n/a
26	BHLHE40	chr6:56953566-56953717	K562	blood:	n/a	n/a
27	BRCA1	chr6:56911394-56911530	HepG2	liver:	n/a	n/a
28	BRCA1	chr6:56910968-56911546	Hela-S3	cervix:	n/a	n/a
29	CBX3	chr6:56911128-56911495	K562	blood:	n/a	n/a
30	CBX3	chr6:56934707-56935238	K562	blood:	n/a	n/a
31	CBX3	chr6:56954349-56955081	HCT-116	colon:	n/a	n/a
32	CBX3	chr6:56911768-56912283	K562	blood:	n/a	n/a
33	CBX3	chr6:56934424-56935344	K562	blood:	n/a	n/a
34	CBX3	chr6:56911025-56912951	K562	blood:	n/a	n/a
35	CCNT2	chr6:56911085-56911602	K562	blood:	n/a	n/a
36	CCNT2	chr6:56932968-56933212	K562	blood:	n/a	n/a
37	CCNT2	chr6:56954385-56955109	K562	blood:	n/a	n/a
38	CCNT2	chr6:56934831-56935079	K562	blood:	n/a	n/a
39	CEBPB	chr6:56911154-56911391	K562	blood:	n/a	n/a
40	CEBPB	chr6:56911155-56911499	Hela-S3	cervix:	n/a	n/a
41	CEBPB	chr6:56920841-56921003	A549	lung:	n/a	n/a
42	CEBPB	chr6:56951654-56951904	HepG2	liver:	n/a	n/a
43	CEBPB	chr6:56911726-56912898	K562	blood:	n/a	chr6:56912325-56912338
44	CEBPB	chr6:56911125-56912469	GM12878	blood:	n/a	chr6:56912325-56912338
45	CEBPB	chr6:56920848-56921032	Hela-S3	cervix:	n/a	n/a
46	CEBPD	chr6:56911119-56912534	K562	blood:	n/a	n/a
47	CEBPD	chr6:56954432-56955913	K562	blood:	n/a	n/a
48	CEBPD	chr6:56934640-56935189	K562	blood:	n/a	n/a
49	CEBPD	chr6:56911114-56911639	HepG2	liver:	n/a	n/a
50	CEBPD	chr6:56954398-56955089	K562	blood:	n/a	n/a

(count:795 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:56911219-56911269	HIPEpiC	eye:	n/a
2	chr6:56915755-56915805	HIPEpiC	eye:	n/a
3	chr6:56911219-56911269	HIPEpiC	eye:	n/a
4	chr6:56915755-56915805	HIPEpiC	eye:	n/a
5	chr6:56915755-56915805	GM12892	blood:	n/a
6	chr6:56915755-56915805	T-47D	breast:	n/a
7	chr6:56915755-56915805	Hela-S3	cervix:	n/a
8	chr6:56911257-56911307	Hela-S3	cervix:	n/a
9	chr6:56915755-56915805	HCPEpiC	choroid plexus:	n/a
10	chr6:56934764-56934814	AoSMC	blood vessel:	n/a
11	chr6:56934764-56934814	T-47D	breast:	n/a
12	chr6:56911409-56911459	SK-N-SH_RA	brain:	n/a
13	chr6:56911409-56911459	AG04449	skin:	fetal
14	chr6:56953492-56953542	Jurkat	blood:	n/a
15	chr6:56911139-56911189	NHDF-neo	bronchial:	n/a
16	chr6:56911139-56911189	AG10803	skin:	n/a
17	chr6:56911402-56911452	MCF10A-Er-Src	breast:	n/a
18	chr6:56911540-56911590	AG09309	skin:	n/a
19	chr6:56911139-56911189	AG09319	gingival:	n/a
20	chr6:56915755-56915805	HEEpiC	esophagus:	n/a
21	chr6:56911257-56911307	NT2-D1	testis:	n/a
22	chr6:56915755-56915805	HNPCEpiC	eye:	n/a
23	chr6:56934764-56934814	HRE	kidney:	n/a
24	chr6:56952208-56952258	U87	brain:	n/a
25	chr6:56953492-56953542	BJ	skin:	n/a
26	chr6:56911409-56911459	Jurkat	blood:	n/a
27	chr6:56911402-56911452	GM12891	blood:	n/a
28	chr6:56911540-56911590	SK-N-SH_RA	brain:	n/a
29	chr6:56911409-56911459	PrEC	prostate:	n/a
30	chr6:56911219-56911269	SK-N-SH_RA	brain:	n/a
31	chr6:56911139-56911189	HIPEpiC	eye:	n/a
32	chr6:56934764-56934814	HMEC	breast:	n/a
33	chr6:56953982-56954032	T-47D	breast:	n/a
34	chr6:56953982-56954032	PrEC	prostate:	n/a
35	chr6:56911139-56911189	GM19239	blood:	n/a
36	chr6:56911402-56911452	SAEC	small airway:	n/a
37	chr6:56911409-56911459	HCPEpiC	choroid plexus:	n/a
38	chr6:56934764-56934814	ECC-1	luminal epithelium:	n/a
39	chr6:56953991-56954041	SAEC	small airway:	n/a
40	chr6:56911409-56911459	A549	lung:	n/a
41	chr6:56911139-56911189	ProgFib	skin:	n/a
42	chr6:56915755-56915805	AG09309	skin:	n/a
43	chr6:56911540-56911590	K562	blood:	n/a
44	chr6:56953492-56953542	A549	lung:	n/a
45	chr6:56911139-56911189	A549	lung:	n/a
46	chr6:56953982-56954032	HIPEpiC	eye:	n/a
47	chr6:56911402-56911452	LNCaP	prostate:	n/a
48	chr6:56953492-56953542	HMEC	breast:	n/a
49	chr6:56915755-56915805	Hepatocyte	liver:	n/a
50	chr6:56915755-56915805	HCT-116	colon:	n/a

(count:74 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr6:56925002..56928122-chr6:56956641..56958794,3	K562	blood:
2	chr6:56905300..56907773-chr6:56908379..56910972,2	K562	blood:
3	chr6:56913257..56915032-chr6:56957847..56960567,2	K562	blood:
4	chr6:56818718..56821144-chr6:56954189..56956169,2	MCF-7	breast:
5	chr6:56938112..56940287-chr6:56942414..56944879,2	K562	blood:
6	chr6:56914118..56915699-chr6:56999791..57001754,2	K562	blood:
7	chr6:56947111..56950590-chr6:56951597..56954777,4	K562	blood:
8	chr6:56916177..56920569-chr6:56928731..56932543,4	K562	blood:
9	chr6:56883885..56886114-chr6:56933093..56934957,2	K562	blood:
10	chr6:56917795..56920630-chr6:57180705..57182325,2	K562	blood:
11	chr3:23987103..23988093-chr6:56911476..56911991,2	Hela-S3	cervix:
12	chr6:56923524..56925614-chr6:56931243..56933274,4	K562	blood:
13	chr6:56912603..56915115-chr6:57036560..57039100,2	MCF-7	breast:
14	chr6:56934363..56937473-chr6:56937699..56942406,5	K562	blood:
15	chr6:56921585..56925316-chr6:56953149..56956196,3	K562	blood:
16	chr6:56818175..56820082-chr6:56931609..56933583,2	K562	blood:
17	chr6:56816669..56821714-chr6:56908406..56912975,10	K562	blood:
18	chr6:56911298..56913104-chr6:56932457..56934576,2	K562	blood:
19	chr6:56951936..56954342-chr6:57037762..57039413,2	K562	blood:
20	chr6:56921296..56922796-chr6:56924652..56926285,2	K562	blood:
21	chr6:56934363..56937335-chr6:56939839..56941721,2	K562	blood:
22	chr6:56932277..56934090-chr6:56953259..56955727,2	K562	blood:
23	chr6:56926145..56928698-chr6:56928741..56930735,2	K562	blood:
24	chr6:56620669..56623205-chr6:56923260..56926182,2	K562	blood:
25	chr6:56918320..56920643-chr6:56931353..56933540,2	K562	blood:
26	chr6:56927166..56929779-chr6:56933810..56935740,2	K562	blood:
27	chr6:56915285..56917607-chr6:56951882..56953453,2	K562	blood:
28	chr6:56927954..56930508-chr6:56970554..56972166,2	K562	blood:
29	chr6:56934363..56937335-chr6:56939839..56941721,2	K562	blood:
30	chr20:48789062..48789587-chr6:56911313..56911879,2	Hela-S3	cervix:
31	chr6:56922057..56924606-chr6:56948935..56951411,2	K562	blood:
32	chr6:56910595..56916200-chr6:57035587..57038867,7	K562	blood:
33	chr6:56948909..56950719-chr6:56952712..56954669,2	K562	blood:
34	chr6:56818139..56821973-chr6:56914159..56916532,4	K562	blood:
35	chr6:56911424..56913498-chr6:56915696..56917760,2	K562	blood:
36	chr6:56772967..56775962-chr6:56913388..56915663,2	K562	blood:
37	chr6:56927166..56929779-chr6:56933810..56935740,2	K562	blood:
38	chr6:56934993..56938147-chr6:56946387..56949781,3	K562	blood:
39	chr6:56938787..56941185-chr6:56942414..56944415,2	K562	blood:
40	chr6:56922057..56924606-chr6:56948935..56951411,2	K562	blood:
41	chr6:56954167..56956467-chr6:57034197..57037095,2	K562	blood:
42	chr6:56817930..56821539-chr6:56909452..56912838,6	K562	blood:
43	chr6:56934363..56937473-chr6:56937699..56942406,5	K562	blood:
44	chr6:56948909..56950719-chr6:56952712..56954669,2	K562	blood:
45	chr6:56927166..56931144-chr6:56933264..56935740,4	K562	blood:
46	chr6:56918758..56920870-chr6:56963743..56966191,2	K562	blood:
47	chr6:56911241..56911877-chr6:56954515..56955089,3	Hela-S3	cervix:
48	chr6:56938112..56940287-chr6:56942414..56944879,2	K562	blood:
49	chr6:56915285..56917607-chr6:56951882..56953453,2	K562	blood:
50	chr6:56938787..56941185-chr6:56942414..56944415,2	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	chr6:56932571-56933175	NONHSAT113257
3	lnc-KIAA1586-1	chr6:56924096-56924235	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
KIAA1586	TF binding region
ZNF451	CpG island
KIAA1586	CpG island
ENSG00000174738	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000112200	chromatin interactions
ENSG00000226803	chromatin interactions
ENSG00000231742	chromatin interactions
ENSG00000151917	chromatin interactions
ENSG00000151914	chromatin interactions
ENSG00000112208	chromatin interactions
ENSG00000235415	chromatin interactions
ENSG00000168116	chromatin interactions
ENSG00000200224	chromatin interactions
ENSG00000197885	chromatin interactions

Extended variants
information (count: 1405 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1405 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1157713	chr6:56910884-56910885	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs188533624	chr6:56910904-56910905	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs181664601	chr6:56910928-56910929	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs185942003	chr6:56910965-56910966	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs191202654	chr6:56910980-56910981	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs568894520	chr6:56911018-56911019	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs144098217	chr6:56911050-56911051	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs551086583	chr6:56911125-56911126	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs551539730	chr6:56911278-56911279	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs182395867	chr6:56911315-56911316	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs186077679	chr6:56911335-56911336	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs578156696	chr6:56911349-56911350	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs571563573	chr6:56911360-56911361	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs574414214	chr6:56911390-56911391	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs538523092	chr6:56911420-56911421	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs557038309	chr6:56911424-56911425	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs190828774	chr6:56911431-56911432	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs575309321	chr6:56911444-56911445	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs545917386	chr6:56911464-56911465	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs13207012	chr6:56911475-56911476	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs563983224	chr6:56911482-56911483	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
22	rs573009754	chr6:56911489-56911490	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
23	rs540024855	chr6:56911491-56911492	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
24	rs201107446	chr6:56911500-56911501	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
25	rs374782893	chr6:56911506-56911507	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
26	rs529181557	chr6:56911508-56911509	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
27	rs550448359	chr6:56911512-56911513	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
28	rs368180111	chr6:56911523-56911524	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
29	rs370733187	chr6:56911525-56911526	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
30	rs9382680	chr6:56911574-56911575	Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs562588761	chr6:56911596-56911597	Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs374359928	chr6:56911607-56911608	Weak transcription Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs533117630	chr6:56911651-56911652	Weak transcription Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
34	rs551870635	chr6:56911682-56911683	Weak transcription Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
35	rs566827010	chr6:56911715-56911716	Weak transcription Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
36	rs534281129	chr6:56911748-56911749	Weak transcription Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
37	rs549347322	chr6:56911764-56911765	Weak transcription Active TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
38	rs548918368	chr6:56912768-56912769	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs376978101	chr6:56912769-56912770	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs567851726	chr6:56912786-56912787	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs113056486	chr6:56912927-56912928	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs538587606	chr6:56912928-56912929	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs146013916	chr6:56912950-56912951	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs369729032	chr6:56912996-56912997	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs111758227	chr6:56913008-56913009	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
46	rs139966662	chr6:56913021-56913022	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
47	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
48	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
49	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
50	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

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:1438 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56910200-56911000	Flanking Active TSS	K562	blood
2	chr6:56910400-56911800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:56910400-56911800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
4	chr6:56910600-56911000	Enhancers	Hela-S3	cervix
5	chr6:56910600-56911200	Flanking Active TSS	Dnd41	blood
6	chr6:56910600-56911800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr6:56910600-56911800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr6:56910600-56911800	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr6:56910800-56911000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr6:56910800-56911000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr6:56910800-56911000	Active TSS	Primary B cells from cord blood	blood
12	chr6:56910800-56911000	Enhancers	Primary B cells from peripheral blood	blood
13	chr6:56910800-56911000	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr6:56910800-56911000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr6:56910800-56911000	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr6:56910800-56911000	Enhancers	Muscle Satellite Cultured Cells	--
17	chr6:56910800-56911000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr6:56910800-56911000	Enhancers	Colon Smooth Muscle	Colon
19	chr6:56910800-56911000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr6:56910800-56911000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
21	chr6:56910800-56911000	Enhancers	Fetal Intestine Small	intestine
22	chr6:56910800-56911000	Flanking Active TSS	Fetal Lung	lung
23	chr6:56910800-56911000	Flanking Active TSS	HepG2	liver
24	chr6:56910800-56911000	Enhancers	NHEK	skin
25	chr6:56910800-56911200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:56910800-56911200	Active TSS	Fetal Brain Male	brain
27	chr6:56910800-56911200	Flanking Active TSS	NH-A	brain
28	chr6:56910800-56911200	Flanking Active TSS	Osteobl	bone
29	chr6:56910800-56911400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr6:56910800-56911400	Flanking Active TSS	HUVEC	blood vessel
31	chr6:56910800-56911600	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr6:56910800-56911600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
33	chr6:56910800-56911600	Active TSS	Liver	Liver
34	chr6:56910800-56911600	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr6:56910800-56911600	Active TSS	GM12878-XiMat	blood
36	chr6:56910800-56911800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:56910800-56911800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr6:56910800-56911800	Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr6:56910800-56911800	Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr6:56910800-56911800	Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr6:56910800-56911800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr6:56910800-56911800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr6:56910800-56911800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr6:56910800-56911800	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr6:56910800-56911800	Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr6:56910800-56911800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr6:56910800-56911800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr6:56910800-56911800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr6:56910800-56911800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr6:56910800-56911800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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