Variant report

Variant	nsv432888
Chromosome Location	chr6:56507489-56560764
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:787)
CpG islands
(count:549)
Chromatin interactive
region (count:49)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:787 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:56557960-56558496	HepG2	liver:	n/a	n/a
2	ARID3A	chr6:56549889-56550239	HepG2	liver:	n/a	n/a
3	ARID3A	chr6:56557196-56557714	HepG2	liver:	n/a	n/a
4	ARID3A	chr6:56551288-56551552	HepG2	liver:	n/a	n/a
5	ARID3A	chr6:56555285-56556318	HepG2	liver:	n/a	n/a
6	ARID3A	chr6:56548627-56549677	HepG2	liver:	n/a	n/a
7	ARID3A	chr6:56507727-56508138	HepG2	liver:	n/a	n/a
8	BACH1	chr6:56528163-56528181	K562	blood:	n/a	n/a
9	BATF	chr6:56551943-56552207	GM12878	blood:	n/a	n/a
10	BCL3	chr6:56517575-56518180	A549	lung:	n/a	n/a
11	BCL3	chr6:56548705-56549060	A549	lung:	n/a	n/a
12	BHLHE40	chr6:56548670-56549055	HepG2	liver:	n/a	n/a
13	BHLHE40	chr6:56549533-56549918	HepG2	liver:	n/a	n/a
14	BHLHE40	chr6:56558029-56558379	HepG2	liver:	n/a	n/a
15	CBX3	chr6:56517629-56518216	HCT-116	colon:	n/a	n/a
16	CBX3	chr6:56548757-56549094	HCT-116	colon:	n/a	n/a
17	CBX3	chr6:56517422-56518341	HCT-116	colon:	n/a	n/a
18	CCNT2	chr6:56520883-56521404	K562	blood:	n/a	n/a
19	CEBPB	chr6:56517776-56518196	MCF-7	breast:	n/a	n/a
20	CEBPB	chr6:56548665-56549422	HepG2	liver:	n/a	chr6:56548846-56548863
21	CEBPB	chr6:56557131-56557770	IMR90	lung:	n/a	chr6:56557482-56557495
22	CEBPB	chr6:56515714-56515994	HepG2	liver:	n/a	chr6:56515854-56515865
23	CEBPB	chr6:56516846-56518261	HCT-116	colon:	n/a	n/a
24	CEBPB	chr6:56507623-56508155	A549	lung:	n/a	n/a
25	CEBPB	chr6:56514238-56515197	A549	lung:	n/a	chr6:56514624-56514635
26	CEBPB	chr6:56514208-56514955	IMR90	lung:	n/a	chr6:56514624-56514635
27	CEBPB	chr6:56507692-56508064	A549	lung:	n/a	n/a
28	CEBPB	chr6:56548677-56549058	A549	lung:	n/a	chr6:56548846-56548863
29	CEBPB	chr6:56557359-56557599	H1-hESC	embryonic stem cell:	n/a	chr6:56557482-56557495
30	CEBPB	chr6:56557306-56557649	K562	blood:	n/a	chr6:56557482-56557495
31	CEBPB	chr6:56548622-56549057	MCF-7	breast:	n/a	chr6:56548846-56548863
32	CEBPB	chr6:56514199-56514679	A549	lung:	n/a	chr6:56514624-56514635
33	CEBPB	chr6:56517835-56518141	ECC-1	luminal epithelium:	n/a	n/a
34	CEBPB	chr6:56555321-56556165	HepG2	liver:	n/a	n/a
35	CEBPB	chr6:56517663-56518368	HCT-116	colon:	n/a	n/a
36	CEBPB	chr6:56555341-56555972	A549	lung:	n/a	n/a
37	CEBPB	chr6:56548685-56549093	HepG2	liver:	n/a	chr6:56548846-56548863
38	CEBPB	chr6:56548524-56549147	HCT-116	colon:	n/a	chr6:56548846-56548863
39	CEBPB	chr6:56557123-56557823	A549	lung:	n/a	chr6:56557482-56557495
40	CEBPB	chr6:56557171-56558399	Hela-S3	cervix:	n/a	chr6:56557983-56557996 chr6:56557482-56557495
41	CEBPB	chr6:56509129-56509376	A549	lung:	n/a	n/a
42	CEBPB	chr6:56548694-56549063	HepG2	liver:	n/a	chr6:56548846-56548863
43	CEBPB	chr6:56548655-56549097	IMR90	lung:	n/a	chr6:56548846-56548863
44	CEBPB	chr6:56507676-56508405	IMR90	lung:	n/a	n/a
45	CEBPB	chr6:56557295-56557674	A549	lung:	n/a	chr6:56557482-56557495
46	CEBPB	chr6:56548593-56549086	A549	lung:	n/a	chr6:56548846-56548863
47	CEBPB	chr6:56558067-56558309	A549	lung:	n/a	n/a
48	CEBPB	chr6:56557295-56557749	A549	lung:	n/a	chr6:56557482-56557495
49	CEBPB	chr6:56548743-56548975	HepG2	liver:	n/a	chr6:56548846-56548863
50	CEBPB	chr6:56548635-56549038	A549	lung:	n/a	chr6:56548846-56548863

(count:549 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:56548600-56548650	ProgFib	skin:	n/a
2	chr6:56514787-56514837	HPAEpiC	pulmonary alveolar:	n/a
3	chr6:56548600-56548650	ECC-1	luminal epithelium:	n/a
4	chr6:56514787-56514837	U87	brain:	n/a
5	chr6:56555274-56555324	CMK	blood:	n/a
6	chr6:56509042-56509092	HNPCEpiC	eye:	n/a
7	chr6:56514787-56514837	BE2_C	brain:	n/a
8	chr6:56508429-56508479	AG04450	lung:	fetal
9	chr6:56524142-56524192	SAEC	small airway:	n/a
10	chr6:56535505-56535555	MCF-7	breast:	n/a
11	chr6:56548600-56548650	SKMC	muscle:	n/a
12	chr6:56509042-56509092	HRPEpiC	eye:	n/a
13	chr6:56524142-56524192	HIPEpiC	eye:	n/a
14	chr6:56508429-56508479	HUVEC	blood vessel:	n/a
15	chr6:56548600-56548650	CMK	blood:	n/a
16	chr6:56535505-56535555	ECC-1	luminal epithelium:	n/a
17	chr6:56507796-56507846	BJ	skin:	n/a
18	chr6:56548600-56548650	HCF	heart:	n/a
19	chr6:56507796-56507846	HUVEC	blood vessel:	n/a
20	chr6:56524142-56524192	HCPEpiC	choroid plexus:	n/a
21	chr6:56535505-56535555	GM12892	blood:	n/a
22	chr6:56514787-56514837	LNCaP	prostate:	n/a
23	chr6:56548600-56548650	GM12878	blood:	n/a
24	chr6:56514787-56514837	HCF	heart:	n/a
25	chr6:56535505-56535555	Jurkat	blood:	n/a
26	chr6:56507796-56507846	SK-N-SH_RA	brain:	n/a
27	chr6:56508429-56508479	K562	blood:	n/a
28	chr6:56535505-56535555	HEEpiC	esophagus:	n/a
29	chr6:56535505-56535555	AG09309	skin:	n/a
30	chr6:56509042-56509092	HRE	kidney:	n/a
31	chr6:56507796-56507846	HCF	heart:	n/a
32	chr6:56524142-56524192	HNPCEpiC	eye:	n/a
33	chr6:56509042-56509092	PANC-1	pancreas:	n/a
34	chr6:56535505-56535555	HL-60	blood:	n/a
35	chr6:56535505-56535555	Hepatocyte	liver:	n/a
36	chr6:56555274-56555324	MCF-7	breast:	n/a
37	chr6:56548600-56548650	HIPEpiC	eye:	n/a
38	chr6:56507796-56507846	BE2_C	brain:	n/a
39	chr6:56509042-56509092	Caco-2	colon:	n/a
40	chr6:56514787-56514837	AG09309	skin:	n/a
41	chr6:56507601-56507651	Hela-S3	cervix:	n/a
42	chr6:56555274-56555324	LNCaP	prostate:	n/a
43	chr6:56509042-56509092	AG04450	lung:	fetal
44	chr6:56524142-56524192	HRPEpiC	eye:	n/a
45	chr6:56555274-56555324	GM12891	blood:	n/a
46	chr6:56508429-56508479	HAEpiC	amniotic membrane:	n/a
47	chr6:56508429-56508479	AG09319	gingival:	n/a
48	chr6:56514787-56514837	CMK	blood:	n/a
49	chr6:56548600-56548650	NHBE	bronchial:	n/a
50	chr6:56514787-56514837	ovcar-3	ovarian:	n/a

(count:49 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:56545238..56547572-chr6:56553977..56556538,2	K562	blood:
2	chr6:56499157..56500762-chr6:56514257..56517185,2	MCF-7	breast:
3	chr6:56510440..56512987-chr6:56514462..56516109,2	K562	blood:
4	chr6:56545238..56547572-chr6:56553977..56556538,2	K562	blood:
5	chr6:56528704..56530414-chr6:56552846..56555109,2	MCF-7	breast:
6	chr6:56528887..56533842-chr6:56534833..56537756,4	MCF-7	breast:
7	chr6:56503799..56506491-chr6:56512573..56514282,2	MCF-7	breast:
8	chr6:56505768..56508358-chr6:56526812..56530016,3	MCF-7	breast:
9	chr6:56526372..56528905-chr6:56531232..56534186,2	K562	blood:
10	chr6:56502058..56503046-chr6:56535693..56536613,3	MCF-7	breast:
11	chr6:56515805..56517456-chr6:56519068..56520830,2	K562	blood:
12	chr6:56506621..56508645-chr6:56839158..56841779,2	MCF-7	breast:
13	chr2:113506967..113507634-chr6:56560436..56561222,2	MCF-7	breast:
14	chr6:56508417..56510652-chr6:56534846..56537017,2	MCF-7	breast:
15	chr6:56489382..56492245-chr6:56527517..56529634,2	MCF-7	breast:
16	chr6:56512469..56514117-chr6:56524237..56526260,2	MCF-7	breast:
17	chr6:56536021..56540007-chr6:56541173..56545596,4	K562	blood:
18	chr6:56528704..56530414-chr6:56552846..56555109,2	MCF-7	breast:
19	chr6:56504232..56507291-chr6:56530802..56532619,3	MCF-7	breast:
20	chr6:56518125..56520340-chr6:56522304..56524310,2	MCF-7	breast:
21	chr6:56512469..56514117-chr6:56524237..56526260,2	MCF-7	breast:
22	chr6:56533836..56536707-chr6:56538007..56539614,2	MCF-7	breast:
23	chr6:56534855..56537779-chr6:56562012..56563518,2	MCF-7	breast:
24	chr6:56558539..56560309-chr6:56560912..56563103,2	MCF-7	breast:
25	chr6:56521338..56523771-chr6:56524136..56525857,2	K562	blood:
26	chr6:56535123..56537866-chr6:56554714..56556544,2	MCF-7	breast:
27	chr6:56536021..56540007-chr6:56541173..56545596,4	K562	blood:
28	chr6:56517201..56519580-chr6:56519629..56522798,3	MCF-7	breast:
29	chr6:56516347..56517862-chr6:56526837..56528463,2	MCF-7	breast:
30	chr6:56482769..56483330-chr6:56536072..56536703,2	MCF-7	breast:
31	chr6:56526372..56528905-chr6:56531232..56534186,2	K562	blood:
32	chr6:56508417..56510652-chr6:56534846..56537017,2	MCF-7	breast:
33	chr6:56510440..56512987-chr6:56514462..56516109,2	K562	blood:
34	chr6:56504273..56509076-chr6:56515083..56519267,7	MCF-7	breast:
35	chr6:56502515..56503016-chr6:56535704..56536542,2	MCF-7	breast:
36	chr6:56518125..56520340-chr6:56522304..56524310,2	MCF-7	breast:
37	chr6:56507686..56509528-chr6:56534429..56537208,2	MCF-7	breast:
38	chr6:56517201..56519580-chr6:56519629..56522798,3	MCF-7	breast:
39	chr6:56521338..56523771-chr6:56524136..56525857,2	K562	blood:
40	chr6:56505646..56507890-chr6:56552731..56554323,2	MCF-7	breast:
41	chr6:56533836..56536707-chr6:56538007..56539614,2	MCF-7	breast:
42	chr6:56528887..56533842-chr6:56534833..56537756,4	MCF-7	breast:
43	chr6:56559575..56561733-chr6:56563230..56565614,2	MCF-7	breast:
44	chr6:56502635..56504912-chr6:56512787..56514887,2	K562	blood:
45	chr6:56505033..56507671-chr6:56553691..56555258,2	MCF-7	breast:
46	chr6:56535123..56537866-chr6:56554714..56556544,2	MCF-7	breast:
47	chr6:56516347..56517862-chr6:56526837..56528463,2	MCF-7	breast:
48	chr6:56515805..56517456-chr6:56519068..56520830,2	K562	blood:
49	chr6:56554445..56557253-chr6:56707680..56709361,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COL21A1-7	chr6:56515431-56515748	expReg_chr6_5762_-
2	lnc-COL21A1-5	chr6:56513703-56514054	expReg_chr6_5754_-
3	lnc-COL21A1-6	chr6:56514507-56514967	expReg_chr6_5759_-

No data

Variant related genes	Relation type
DST	TF binding region
DST	CpG island
ENSG00000231441	chromatin interactions
ENSG00000151914	chromatin interactions
ENSG00000219790	chromatin interactions

Extended variants
information (count: 1796 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1796 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1024196	chr6:56507489-56507490	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs137865390	chr6:56507503-56507504	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs531151277	chr6:56507511-56507512	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs201866780	chr6:56507561-56507562	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs75671065	chr6:56507562-56507563	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs368676961	chr6:56507568-56507569	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs201076040	chr6:56507575-56507576	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs192721247	chr6:56507594-56507595	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs550343296	chr6:56507621-56507622	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs182565183	chr6:56507651-56507652	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs377533945	chr6:56507685-56507686	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs143726337	chr6:56507696-56507697	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs376726246	chr6:56507710-56507711	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs536398876	chr6:56507760-56507761	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs148108955	chr6:56507796-56507797	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs569922018	chr6:56507800-56507801	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs202124984	chr6:56507829-56507830	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs536979698	chr6:56507877-56507878	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs558835891	chr6:56507979-56507980	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs188423544	chr6:56508047-56508048	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs535026972	chr6:56508072-56508073	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs191720800	chr6:56508074-56508075	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs376958909	chr6:56508106-56508107	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs3763377	chr6:56508119-56508120	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs575036356	chr6:56508127-56508128	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs542402538	chr6:56508135-56508136	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs563765809	chr6:56508153-56508154	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs543401506	chr6:56508163-56508164	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs575874195	chr6:56508166-56508167	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs140956916	chr6:56508221-56508222	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs184643643	chr6:56508299-56508300	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs77781175	chr6:56508351-56508352	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs116013146	chr6:56508380-56508381	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs369368285	chr6:56508381-56508382	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs571733888	chr6:56508390-56508391	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs189156557	chr6:56508396-56508397	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs370996787	chr6:56508401-56508402	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs192008282	chr6:56508430-56508431	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs548349321	chr6:56508483-56508484	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs553757436	chr6:56508484-56508485	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs567211754	chr6:56508489-56508490	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs79721930	chr6:56508501-56508502	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs537268329	chr6:56508596-56508597	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs552459546	chr6:56508634-56508635	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs570763348	chr6:56508637-56508638	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs536189860	chr6:56508645-56508646	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs115825809	chr6:56508751-56508752	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs553446818	chr6:56508782-56508783	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs59772940	chr6:56508802-56508803	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs370636934	chr6:56508826-56508827	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Schizophrenia	23813976	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2341 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56417000-56516400	Weak transcription	Pancreas	Pancrea
2	chr6:56432800-56513600	Weak transcription	Small Intestine	intestine
3	chr6:56441000-56524800	Weak transcription	Colonic Mucosa	Colon
4	chr6:56451800-56514200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr6:56452200-56514600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr6:56459000-56521000	Weak transcription	Spleen	Spleen
7	chr6:56460600-56513600	Weak transcription	Stomach Mucosa	stomach
8	chr6:56478400-56514600	Weak transcription	Lung	lung
9	chr6:56480600-56514600	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr6:56480800-56536400	Weak transcription	Gastric	stomach
11	chr6:56482000-56518200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr6:56483400-56512600	Weak transcription	Psoas Muscle	Psoas
13	chr6:56485000-56514400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr6:56485800-56512400	Weak transcription	Fetal Stomach	stomach
15	chr6:56490000-56513600	Strong transcription	Fetal Intestine Large	intestine
16	chr6:56491600-56536600	Weak transcription	Fetal Brain Female	brain
17	chr6:56496600-56517000	Weak transcription	Fetal Brain Male	brain
18	chr6:56496800-56515000	Weak transcription	Fetal Kidney	kidney
19	chr6:56497800-56524800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:56499400-56510000	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr6:56499400-56511800	Weak transcription	Ovary	ovary
22	chr6:56499400-56516800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr6:56499600-56509200	Weak transcription	Right Ventricle	heart
24	chr6:56499600-56509400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr6:56500200-56509400	Weak transcription	Fetal Muscle Trunk	muscle
26	chr6:56500600-56509400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr6:56500600-56509400	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr6:56500600-56509800	Weak transcription	Brain Germinal Matrix	brain
29	chr6:56500600-56514200	Weak transcription	Fetal Heart	heart
30	chr6:56500800-56513000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr6:56501000-56507800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr6:56501600-56507800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr6:56501800-56524600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr6:56502000-56512400	Weak transcription	Fetal Intestine Small	intestine
35	chr6:56503000-56507600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr6:56503400-56507600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr6:56503600-56508000	Strong transcription	Skeletal Muscle Female	skeletal muscle
38	chr6:56503600-56508200	Strong transcription	Fetal Lung	lung
39	chr6:56504000-56507800	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr6:56504000-56508400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr6:56504200-56508000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr6:56505000-56508000	Strong transcription	Left Ventricle	heart
43	chr6:56505200-56509600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr6:56505400-56507600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr6:56505400-56507800	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr6:56505400-56508000	Active TSS	NHEK	skin
47	chr6:56505400-56509600	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr6:56505400-56509600	Weak transcription	Stomach Smooth Muscle	stomach
49	chr6:56505400-56510000	Weak transcription	Placenta	Placenta
50	chr6:56505400-56514600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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