Variant report

Variant	esv3374787
Chromosome Location	chr6:56912959-56955113
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:835)
CpG islands
(count:794)
Chromatin interactive
region (count:73)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:835 , 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	chr6:56951602-56951813	HepG2	liver:	n/a	n/a
2	ARID3A	chr6:56934202-56935050	K562	blood:	n/a	n/a
3	ARID3A	chr6:56954518-56954891	K562	blood:	n/a	n/a
4	ARID3A	chr6:56954669-56954998	HepG2	liver:	n/a	n/a
5	ATF1	chr6:56954345-56955010	K562	blood:	n/a	n/a
6	ATF1	chr6:56937029-56937237	K562	blood:	n/a	n/a
7	ATF2	chr6:56954677-56955022	GM12878	blood:	n/a	n/a
8	ATF2	chr6:56954421-56955059	GM12878	blood:	n/a	n/a
9	ATF3	chr6:56954645-56955035	K562	blood:	n/a	chr6:56954816-56954825
10	BATF	chr6:56954998-56955253	GM12878	blood:	n/a	n/a
11	BCL11A	chr6:56954930-56955611	GM12878	blood:	n/a	chr6:56955291-56955304
12	BCL3	chr6:56954430-56955027	K562	blood:	n/a	n/a
13	BCLAF1	chr6:56954356-56954969	K562	blood:	n/a	n/a
14	BCLAF1	chr6:56954392-56955175	GM12878	blood:	n/a	n/a
15	BCLAF1	chr6:56954456-56955077	GM12878	blood:	n/a	n/a
16	BCLAF1	chr6:56954465-56955072	K562	blood:	n/a	n/a
17	BHLHE40	chr6:56953566-56953717	K562	blood:	n/a	n/a
18	BHLHE40	chr6:56954343-56955004	K562	blood:	n/a	chr6:56954714-56954730
19	BHLHE40	chr6:56934811-56934994	K562	blood:	n/a	n/a
20	BHLHE40	chr6:56954512-56955002	GM12878	blood:	n/a	chr6:56954714-56954730
21	BRCA1	chr6:56954642-56955026	Hela-S3	cervix:	n/a	n/a
22	BRCA1	chr6:56954496-56954784	H1-hESC	embryonic stem cell:	n/a	n/a
23	CBX3	chr6:56934707-56935238	K562	blood:	n/a	n/a
24	CBX3	chr6:56954349-56955081	HCT-116	colon:	n/a	n/a
25	CBX3	chr6:56954501-56955990	K562	blood:	n/a	n/a
26	CBX3	chr6:56934424-56935344	K562	blood:	n/a	n/a
27	CCNT2	chr6:56954385-56955109	K562	blood:	n/a	n/a
28	CCNT2	chr6:56932968-56933212	K562	blood:	n/a	n/a
29	CCNT2	chr6:56934831-56935079	K562	blood:	n/a	n/a
30	CEBPB	chr6:56920841-56921003	A549	lung:	n/a	n/a
31	CEBPB	chr6:56954598-56954971	K562	blood:	n/a	n/a
32	CEBPB	chr6:56954714-56955007	Hela-S3	cervix:	n/a	n/a
33	CEBPB	chr6:56954488-56954950	K562	blood:	n/a	n/a
34	CEBPB	chr6:56951654-56951904	HepG2	liver:	n/a	n/a
35	CEBPB	chr6:56920848-56921032	Hela-S3	cervix:	n/a	n/a
36	CEBPD	chr6:56954576-56955129	HepG2	liver:	n/a	n/a
37	CEBPD	chr6:56954398-56955089	K562	blood:	n/a	n/a
38	CEBPD	chr6:56934640-56935189	K562	blood:	n/a	n/a
39	CEBPD	chr6:56954432-56955913	K562	blood:	n/a	n/a
40	CEBPD	chr6:56954753-56955047	HepG2	liver:	n/a	n/a
41	CHD1	chr6:56954388-56954809	GM12878	blood:	n/a	n/a
42	CHD1	chr6:56954143-56955164	IMR90	lung:	n/a	n/a
43	CHD2	chr6:56934827-56935012	K562	blood:	n/a	n/a
44	CHD2	chr6:56954578-56955023	K562	blood:	n/a	n/a
45	CHD2	chr6:56952765-56952963	GM12878	blood:	n/a	n/a
46	CHD2	chr6:56954594-56955097	Hela-S3	cervix:	n/a	n/a
47	CHD2	chr6:56954448-56955031	H1-hESC	embryonic stem cell:	n/a	n/a
48	CHD2	chr6:56934853-56935158	H1-hESC	embryonic stem cell:	n/a	n/a
49	CHD2	chr6:56954465-56955085	GM12878	blood:	n/a	n/a
50	CHD2	chr6:56952604-56953056	K562	blood:	n/a	n/a

(count:794 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:56953492-56953542	GM12878	blood:	n/a
2	chr6:56953492-56953542	GM12878	blood:	n/a
3	chr6:56955042-56955092	HAEpiC	amniotic membrane:	n/a
4	chr6:56953982-56954032	HRCEpiC	kidney:	n/a
5	chr6:56955042-56955092	HRCEpiC	kidney:	n/a
6	chr6:56954779-56954829	A549	lung:	n/a
7	chr6:56954907-56954957	CMK	blood:	n/a
8	chr6:56954773-56954823	HMEC	breast:	n/a
9	chr6:56952208-56952258	LNCaP	prostate:	n/a
10	chr6:56954677-56954727	HCT-116	colon:	n/a
11	chr6:56934764-56934814	ECC-1	luminal epithelium:	n/a
12	chr6:56954784-56954834	Hela-S3	cervix:	n/a
13	chr6:56934764-56934814	NH-A	brain:	n/a
14	chr6:56954677-56954727	GM12892	blood:	n/a
15	chr6:56954677-56954727	ProgFib	skin:	n/a
16	chr6:56954917-56954967	PANC-1	pancreas:	n/a
17	chr6:56915755-56915805	HRE	kidney:	n/a
18	chr6:56955042-56955092	Jurkat	blood:	n/a
19	chr6:56954917-56954967	HAEpiC	amniotic membrane:	n/a
20	chr6:56954677-56954727	AoSMC	blood vessel:	n/a
21	chr6:56954784-56954834	NHDF-neo	bronchial:	n/a
22	chr6:56954677-56954727	AG10803	skin:	n/a
23	chr6:56954773-56954823	HEK293	kidney:	embryo
24	chr6:56954677-56954727	ECC-1	luminal epithelium:	n/a
25	chr6:56954773-56954823	GM12892	blood:	n/a
26	chr6:56955042-56955092	SK-N-MC	brain:	n/a
27	chr6:56955042-56955092	GM12892	blood:	n/a
28	chr6:56955042-56955092	HCF	heart:	n/a
29	chr6:56954773-56954823	HRCEpiC	kidney:	n/a
30	chr6:56954907-56954957	HEK293	kidney:	embryo
31	chr6:56954773-56954823	NT2-D1	testis:	n/a
32	chr6:56955042-56955092	MCF10A-Er-Src	breast:	n/a
33	chr6:56915755-56915805	HAEpiC	amniotic membrane:	n/a
34	chr6:56953991-56954041	NHDF-neo	bronchial:	n/a
35	chr6:56934764-56934814	GM12892	blood:	n/a
36	chr6:56954779-56954829	Caco-2	colon:	n/a
37	chr6:56954773-56954823	LNCaP	prostate:	n/a
38	chr6:56953492-56953542	GM12891	blood:	n/a
39	chr6:56954907-56954957	PFSK-1	brain:	n/a
40	chr6:56952208-56952258	HNPCEpiC	eye:	n/a
41	chr6:56953492-56953542	AG04450	lung:	fetal
42	chr6:56952208-56952258	HUVEC	blood vessel:	n/a
43	chr6:56954677-56954727	LNCaP	prostate:	n/a
44	chr6:56954773-56954823	HNPCEpiC	eye:	n/a
45	chr6:56953991-56954041	HAEpiC	amniotic membrane:	n/a
46	chr6:56915755-56915805	LNCaP	prostate:	n/a
47	chr6:56953991-56954041	T-47D	breast:	n/a
48	chr6:56955042-56955092	NH-A	brain:	n/a
49	chr6:56953982-56954032	NB4	blood:	n/a
50	chr6:56954907-56954957	AoSMC	blood vessel:	n/a

(count:73 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr6:56917795..56920630-chr6:57180705..57182325,2	K562	blood:
2	chr6:56810289..56813154-chr6:56935958..56938230,2	K562	blood:
3	chr6:56818841..56821468-chr6:56915321..56916838,2	K562	blood:
4	chr6:56818175..56820082-chr6:56931609..56933583,2	K562	blood:
5	chr6:56913918..56916785-chr6:56951953..56954824,2	K562	blood:
6	chr6:56915285..56917607-chr6:56951882..56953453,2	K562	blood:
7	chr6:56916004..56918245-chr6:56961868..56964513,2	K562	blood:
8	chr6:56914118..56915699-chr6:56999791..57001754,2	K562	blood:
9	chr6:56916177..56920569-chr6:56928731..56932543,4	K562	blood:
10	chr6:56927166..56929779-chr6:56933810..56935740,2	K562	blood:
11	chr6:56818533..56822842-chr6:56954657..56959004,6	K562	blood:
12	chr6:56923524..56925614-chr6:56931243..56933274,4	K562	blood:
13	chr6:56818718..56821144-chr6:56954189..56956169,2	MCF-7	breast:
14	chr6:56938787..56941185-chr6:56942414..56944415,2	K562	blood:
15	chr6:56620669..56623205-chr6:56923260..56926182,2	K562	blood:
16	chr6:56921415..56923823-chr6:56954797..56956422,2	MCF-7	breast:
17	chr6:56954866..56956566-chr6:56964924..56967496,2	MCF-7	breast:
18	chr6:56948909..56950719-chr6:56952712..56954669,2	K562	blood:
19	chr6:56818139..56821973-chr6:56914159..56916532,4	K562	blood:
20	chr6:56938112..56940287-chr6:56942414..56944879,2	K562	blood:
21	chr6:56910595..56916200-chr6:57035587..57038867,7	K562	blood:
22	chr6:56885077..56887433-chr6:56918362..56920349,2	K562	blood:
23	chr6:56923126..56925148-chr6:56926717..56929557,2	K562	blood:
24	chr6:56934993..56938147-chr6:56946387..56949781,3	K562	blood:
25	chr6:56911241..56911877-chr6:56954515..56955089,3	Hela-S3	cervix:
26	chr6:56913257..56915032-chr6:56957847..56960567,2	K562	blood:
27	chr6:56915285..56917607-chr6:56951882..56953453,2	K562	blood:
28	chr6:56927166..56931144-chr6:56933264..56935740,4	K562	blood:
29	chr6:56911298..56913104-chr6:56932457..56934576,2	K562	blood:
30	chr6:56934993..56938147-chr6:56946387..56949781,3	K562	blood:
31	chr6:56918758..56920870-chr6:56963743..56966191,2	K562	blood:
32	chr6:56883885..56886114-chr6:56933093..56934957,2	K562	blood:
33	chr6:56912603..56915115-chr6:57036560..57039100,2	MCF-7	breast:
34	chr6:56946361..56949087-chr6:56953500..56956210,2	MCF-7	breast:
35	chr6:56925002..56928122-chr6:56956641..56958794,3	K562	blood:
36	chr6:56954167..56956467-chr6:57034197..57037095,2	K562	blood:
37	chr6:56911424..56913498-chr6:56915696..56917760,2	K562	blood:
38	chr6:56927166..56929779-chr6:56933810..56935740,2	K562	blood:
39	chr6:56918320..56920643-chr6:56931353..56933540,2	K562	blood:
40	chr6:56954591..56956568-chr6:57036921..57038610,2	MCF-7	breast:
41	chr6:56816669..56821714-chr6:56908406..56912975,10	K562	blood:
42	chr6:56938787..56941185-chr6:56942414..56944415,2	K562	blood:
43	chr6:56820330..56821970-chr6:56922226..56924549,2	MCF-7	breast:
44	chr6:56921296..56922796-chr6:56924652..56926285,2	K562	blood:
45	chr6:56938112..56940287-chr6:56942414..56944879,2	K562	blood:
46	chr6:56932277..56934090-chr6:56953259..56955727,2	K562	blood:
47	chr6:56913994..56915707-chr6:57036966..57038653,2	K562	blood:
48	chr6:56922057..56924606-chr6:56948935..56951411,2	K562	blood:
49	chr6:56934363..56937335-chr6:56939839..56941721,2	K562	blood:
50	chr6:56921585..56925316-chr6:56953149..56956196,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KIAA1586-1	chr6:56932571-56933175	NONHSAT113257
2	lnc-KIAA1586-1	chr6:56931260-56931740	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
ZNF451	CpG island
ENSG00000226803	chromatin interactions
ENSG00000235415	chromatin interactions
ENSG00000200224	chromatin interactions
ENSG00000112200	chromatin interactions
ENSG00000151917	chromatin interactions
ENSG00000112208	chromatin interactions
ENSG00000168116	chromatin interactions
ENSG00000151914	chromatin interactions

Extended variants
information (count: 1400 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1400 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	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
38	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
39	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
40	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
41	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
42	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
43	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
44	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
45	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
46	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
47	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
48	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
49	rs62415860	chr6:56914810-56914811	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs527405783	chr6:56914825-56914826	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:1289 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56911600-56913000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr6:56911600-56913000	Weak transcription	Small Intestine	intestine
3	chr6:56911600-56913200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:56911600-56915400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr6:56911600-56916400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr6:56911600-56916400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr6:56911600-56920800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:56911600-56920800	Weak transcription	Aorta	Aorta
9	chr6:56911600-56925000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:56911600-56935200	Weak transcription	Gastric	stomach
11	chr6:56911600-56939800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr6:56911800-56913000	Weak transcription	Fetal Kidney	kidney
13	chr6:56911800-56913000	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr6:56911800-56913200	Weak transcription	Duodenum Mucosa	Duodenum
15	chr6:56911800-56914800	Weak transcription	Fetal Thymus	thymus
16	chr6:56911800-56915200	Weak transcription	Fetal Intestine Large	intestine
17	chr6:56911800-56915200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr6:56911800-56915200	Weak transcription	Left Ventricle	heart
19	chr6:56911800-56915400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr6:56911800-56915400	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr6:56911800-56915600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr6:56911800-56915600	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr6:56911800-56915800	Weak transcription	Lung	lung
24	chr6:56911800-56916400	Weak transcription	Fetal Muscle Leg	muscle
25	chr6:56911800-56916400	Weak transcription	Pancreas	Pancrea
26	chr6:56911800-56916400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr6:56911800-56922200	Weak transcription	Right Ventricle	heart
28	chr6:56911800-56924200	Weak transcription	Colonic Mucosa	Colon
29	chr6:56911800-56930800	Weak transcription	Psoas Muscle	Psoas
30	chr6:56911800-56934200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr6:56911800-56936200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr6:56911800-56943000	Weak transcription	Esophagus	oesophagus
33	chr6:56912800-56913000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:56912800-56913000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr6:56912800-56913000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr6:56912800-56913000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr6:56912800-56913000	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr6:56912800-56913000	Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr6:56912800-56913000	Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr6:56912800-56913000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr6:56912800-56913000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr6:56912800-56913000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr6:56912800-56913000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
44	chr6:56912800-56913000	Active TSS	Fetal Brain Female	brain
45	chr6:56912800-56913000	Flanking Active TSS	Fetal Heart	heart
46	chr6:56912800-56913000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr6:56912800-56913000	Active TSS	Fetal Lung	lung
48	chr6:56912800-56913000	Enhancers	Stomach Smooth Muscle	stomach
49	chr6:56912800-56913000	Enhancers	Spleen	Spleen
50	chr6:56912800-56913000	Flanking Active TSS	Dnd41	blood

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