Variant report

Variant	esv3340533
Chromosome Location	chr6:69343856-69346404
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:298)
CpG islands
(count:977)
Chromatin interactive
region (count:1)
LncRNA
region (count:18)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:298 , 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	chr6:69344490-69344840	K562	blood:	n/a	n/a
2	BACH1	chr6:69344958-69345306	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr6:69345218-69345346	K562	blood:	n/a	n/a
4	BATF	chr6:69344484-69344707	GM12878	blood:	n/a	n/a
5	BHLHE40	chr6:69344442-69346164	K562	blood:	n/a	chr6:69345453-69345469 chr6:69345036-69345052 chr6:69345447-69345463
6	CBX3	chr6:69344872-69345419	K562	blood:	n/a	n/a
7	CCNT2	chr6:69344847-69345311	K562	blood:	n/a	n/a
8	CHD2	chr6:69345069-69345379	H1-hESC	embryonic stem cell:	n/a	chr6:69345331-69345341
9	CHD2	chr6:69344971-69345358	K562	blood:	n/a	chr6:69345331-69345341 chr6:69345008-69345018
10	CHD2	chr6:69344661-69344746	K562	blood:	n/a	n/a
11	CREB1	chr6:69344595-69345410	H1-hESC	embryonic stem cell:	n/a	n/a
12	CREB1	chr6:69345008-69345213	A549	lung:	n/a	n/a
13	CTBP2	chr6:69344295-69346023	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr6:69344699-69344786	MCF-7	breast:	n/a	n/a
15	CTCF	chr6:69345200-69345350	HPF	lung:	n/a	chr6:69345324-69345332 chr6:69345325-69345338
16	CTCF	chr6:69345229-69345297	ProgFib	skin:	n/a	n/a
17	CTCF	chr6:69344963-69345045	GM19239	blood:	n/a	n/a
18	CTCF	chr6:69344860-69345010	GM12867	blood:	n/a	n/a
19	CTCF	chr6:69344680-69344830	GM12865	blood:	n/a	n/a
20	CTCF	chr6:69344940-69345090	HAc	cerebellar:	n/a	n/a
21	CTCF	chr6:69345820-69345970	AG04449	skin:	n/a	n/a
22	CTCF	chr6:69344640-69344790	HCPEpiC	choroid plexus:	n/a	n/a
23	CTCF	chr6:69344600-69344750	HCPEpiC	choroid plexus:	n/a	n/a
24	CTCF	chr6:69344987-69345010	GM12891	blood:	n/a	n/a
25	CTCF	chr6:69344880-69345030	BJ	skin:	n/a	n/a
26	CTCF	chr6:69344680-69344830	GM12864	blood:	n/a	n/a
27	CTCF	chr6:69346231-69346294	ProgFib	skin:	n/a	n/a
28	CTCF	chr6:69346180-69346330	HRE	kidney:	n/a	n/a
29	CTCF	chr6:69344640-69344790	WERI-Rb-1	eye:	n/a	n/a
30	CTCF	chr6:69346000-69346150	NHDF-neo	bronchial:	n/a	n/a
31	CTCF	chr6:69344940-69345090	GM12872	blood:	n/a	n/a
32	CTCF	chr6:69346180-69346330	HBMEC	blood vessel:	n/a	n/a
33	CTCF	chr6:69344920-69345070	RPTEC	kidney:	n/a	n/a
34	CTCF	chr6:69344900-69345050	HBMEC	blood vessel:	n/a	n/a
35	CTCF	chr6:69344960-69345110	GM12865	blood:	n/a	n/a
36	CTCF	chr6:69346200-69346350	HRE	kidney:	n/a	n/a
37	CTCF	chr6:69344660-69344810	AoAF	blood vessel:	n/a	n/a
38	CTCF	chr6:69344900-69345050	K562	blood:	n/a	n/a
39	CTCF	chr6:69344899-69345094	K562	blood:	n/a	n/a
40	CTCF	chr6:69344993-69345085	MCF-7	breast:	n/a	n/a
41	CTCF	chr6:69344940-69345090	BE2_C	brain:	n/a	n/a
42	CTCF	chr6:69345233-69345253	Gliobla	brain:	n/a	n/a
43	CTCF	chr6:69344900-69345050	WERI-Rb-1	eye:	n/a	n/a
44	CTCF	chr6:69344944-69345060	MCF-7	breast:	n/a	n/a
45	CTCF	chr6:69344700-69344850	HPAF	blood vessel:	n/a	n/a
46	CTCF	chr6:69346119-69346319	GM12878	blood:	n/a	n/a
47	CTCF	chr6:69344900-69345050	GM12875	blood:	n/a	n/a
48	CTCF	chr6:69344974-69345219	IMR90	lung:	n/a	n/a
49	CTCF	chr6:69344840-69344990	GM12866	blood:	n/a	n/a
50	CTCF	chr6:69345000-69345150	HRPEpiC	eye:	n/a	n/a

(count:977 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:69346248-69346298	T-47D	breast:	n/a
2	chr6:69346248-69346298	T-47D	breast:	n/a
3	chr6:69343835-69343885	GM12892	blood:	n/a
4	chr6:69345066-69345116	ProgFib	skin:	n/a
5	chr6:69344576-69344626	ovcar-3	ovarian:	n/a
6	chr6:69346114-69346164	SK-N-MC	brain:	n/a
7	chr6:69345425-69345475	GM06990	blood:	n/a
8	chr6:69345293-69345343	PANC-1	pancreas:	n/a
9	chr6:69346248-69346298	Hela-S3	cervix:	n/a
10	chr6:69344576-69344626	GM19239	blood:	n/a
11	chr6:69344406-69344456	HNPCEpiC	eye:	n/a
12	chr6:69344576-69344626	HepG2	liver:	n/a
13	chr6:69344702-69344752	SAEC	small airway:	n/a
14	chr6:69345357-69345407	K562	blood:	n/a
15	chr6:69344117-69344167	SK-N-SH	brain:	n/a
16	chr6:69344702-69344752	Hela-S3	cervix:	n/a
17	chr6:69345293-69345343	U87	brain:	n/a
18	chr6:69344416-69344466	Hepatocyte	liver:	n/a
19	chr6:69344117-69344167	HEEpiC	esophagus:	n/a
20	chr6:69345425-69345475	ProgFib	skin:	n/a
21	chr6:69344117-69344167	AG04449	skin:	fetal
22	chr6:69345836-69345886	Caco-2	colon:	n/a
23	chr6:69346114-69346164	HIPEpiC	eye:	n/a
24	chr6:69344702-69344752	HRCEpiC	kidney:	n/a
25	chr6:69344117-69344167	HRCEpiC	kidney:	n/a
26	chr6:69345836-69345886	Hepatocyte	liver:	n/a
27	chr6:69344576-69344626	MCF10A-Er-Src	breast:	n/a
28	chr6:69344423-69344473	HPAEpiC	pulmonary alveolar:	n/a
29	chr6:69345425-69345475	HCF	heart:	n/a
30	chr6:69345357-69345407	HAEpiC	amniotic membrane:	n/a
31	chr6:69344117-69344167	CMK	blood:	n/a
32	chr6:69344423-69344473	ovcar-3	ovarian:	n/a
33	chr6:69345425-69345475	A549	lung:	n/a
34	chr6:69344702-69344752	IMR90	lung:	fetal
35	chr6:69345357-69345407	PFSK-1	brain:	n/a
36	chr6:69346003-69346053	ovcar-3	ovarian:	n/a
37	chr6:69344117-69344167	NB4	blood:	n/a
38	chr6:69344117-69344167	NHDF-neo	bronchial:	n/a
39	chr6:69345293-69345343	GM12878	blood:	n/a
40	chr6:69346003-69346053	CMK	blood:	n/a
41	chr6:69345836-69345886	H1-hESC	embryonic stem cell:	embryo
42	chr6:69344416-69344466	Jurkat	blood:	n/a
43	chr6:69344416-69344466	Hela-S3	cervix:	n/a
44	chr6:69345066-69345116	H1-hESC	embryonic stem cell:	embryo
45	chr6:69344416-69344466	BE2_C	brain:	n/a
46	chr6:69344117-69344167	HRE	kidney:	n/a
47	chr6:69343835-69343885	ovcar-3	ovarian:	n/a
48	chr6:69346003-69346053	GM06990	blood:	n/a
49	chr6:69344423-69344473	SK-N-SH	brain:	n/a
50	chr6:69345882-69345932	HepG2	liver:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:6675219..6676012-chr6:69345153..69345653,2	MCF-7	breast:

(count:18 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL713998.1-2	chr6:69344726-69344993	NONHSAT113410
2	lnc-AL713998.1-2	chr6:69343940-69344888	NONHSAT113409
3	lnc-AL713998.1-2	chr6:69344357-69344616	NONHSAT113415
4	lnc-AL713998.1-2	chr6:69344077-69344611	NONHSAT113412
5	lnc-AL713998.1-2	chr6:69344726-69345052	NONHSAT113415
6	lnc-AL713998.1-2	chr6:69344357-69344616	NONHSAT113410
7	lnc-AL713998.1-2	chr6:69344077-69344150	NONHSAT113410
8	lnc-AL713998.1-2	chr6:69344077-69345052	NONHSAT113413
9	lnc-AL713998.1-2	chr6:69343853-69344150	NONHSAT113416
10	lnc-AL713998.1-2	chr6:69344077-69344985	NONHSAT113407
11	lnc-AL713998.1-2	chr6:69344357-69344967	NONHSAT113416
12	lnc-AL713998.1-2	chr6:69344726-69345052	NONHSAT113408
13	lnc-AL713998.1-2	chr6:69342555-69344919	ENSG00000230910.2
14	lnc-AL713998.1-2	chr6:69343940-69344888	NONHSAT113414
15	lnc-AL713998.1-2	chr6:69344726-69344854	ENSG00000230910.2
16	lnc-AL713998.1-2	chr6:69344726-69344985	NONHSAT113412
17	lnc-AL713998.1-2	chr6:69344077-69344216	ENSG00000230910.1
18	lnc-AL713998.1-2	chr6:69343846-69344150	NONHSAT113415

No data

Variant related genes	Relation type
BAI3	TF binding region
ENSG00000230910	TF binding region
BAI3	CpG island
ENSG00000230910	CpG island
ENSG00000251580	chromatin interactions

Extended variants
information (count: 91 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544664825	chr6:69343857-69343858	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs191302835	chr6:69343889-69343890	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs574762090	chr6:69343945-69343946	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs543384695	chr6:69343969-69343970	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs145339502	chr6:69344149-69344150	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs139604695	chr6:69344173-69344174	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs76990826	chr6:69344176-69344177	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs376992164	chr6:69344179-69344180	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs541938338	chr6:69344215-69344216	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs563614470	chr6:69344239-69344240	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
11	rs182904901	chr6:69344275-69344276	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
12	rs35486780	chr6:69344280-69344281	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
13	rs34847351	chr6:69344307-69344308	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
14	rs545979538	chr6:69344375-69344376	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
15	rs565190536	chr6:69344379-69344380	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
16	rs2802701	chr6:69344385-69344386	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs541026320	chr6:69344434-69344435	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	2 gene(s)	Overlapped CNVs	n/a
18	rs187246329	chr6:69344439-69344440	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	2 gene(s)	Overlapped CNVs	n/a
19	rs530316276	chr6:69344469-69344470	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	2 gene(s)	Overlapped CNVs	n/a
20	rs550173832	chr6:69344481-69344482	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
21	rs570350616	chr6:69344508-69344509	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
22	rs528293175	chr6:69344534-69344535	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
23	rs552747307	chr6:69344541-69344542	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
24	rs565777110	chr6:69344573-69344574	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
25	rs534735598	chr6:69344577-69344578	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	2 gene(s)	Overlapped CNVs	n/a
26	rs531947731	chr6:69344626-69344627	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island lncRNA	2 gene(s)	Overlapped CNVs	n/a
27	rs546351590	chr6:69344628-69344629	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
28	rs554587849	chr6:69344648-69344649	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
29	rs568024527	chr6:69344691-69344692	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
30	rs537070086	chr6:69344695-69344696	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
31	rs556927306	chr6:69344708-69344709	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island lncRNA	2 gene(s)	Overlapped CNVs	n/a
32	rs577073849	chr6:69344777-69344778	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
33	rs191055113	chr6:69344824-69344825	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
34	rs111971763	chr6:69344870-69344871	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
35	rs552797855	chr6:69344897-69344898	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
36	rs572189437	chr6:69344915-69344916	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
37	rs9363960	chr6:69344962-69344963	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
38	rs561064183	chr6:69345051-69345052	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
39	rs2490343	chr6:69345062-69345063	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs543804454	chr6:69345215-69345216	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs563788441	chr6:69345272-69345273	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs532882277	chr6:69345309-69345310	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs111335839	chr6:69345332-69345333	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs144119628	chr6:69345335-69345336	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs528710328	chr6:69345336-69345337	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs368324074	chr6:69345355-69345356	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs568162138	chr6:69345366-69345367	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs536601099	chr6:69345384-69345385	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs187984158	chr6:69345396-69345397	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs41273635	chr6:69345436-69345437	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:347 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:69342600-69349600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr6:69342600-69351000	Active TSS	Brain Angular Gyrus	brain
3	chr6:69342800-69344200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
4	chr6:69342800-69348000	Active TSS	Fetal Brain Male	brain
5	chr6:69343000-69344000	Weak transcription	Psoas Muscle	Psoas
6	chr6:69343000-69348000	Active TSS	Cortex derived primary cultured neurospheres	brain
7	chr6:69343200-69344200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:69343200-69344400	Bivalent/Poised TSS	Fetal Lung	lung
9	chr6:69343200-69348600	Active TSS	Brain Cingulate Gyrus	brain
10	chr6:69343200-69348800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr6:69343200-69349200	Active TSS	Brain Germinal Matrix	brain
12	chr6:69343200-69351200	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr6:69343200-69352000	Active TSS	Brain Anterior Caudate	brain
14	chr6:69343400-69344000	Active TSS	Stomach Smooth Muscle	stomach
15	chr6:69343400-69348400	Active TSS	Fetal Stomach	stomach
16	chr6:69343400-69349600	Active TSS	Fetal Brain Female	brain
17	chr6:69343600-69344000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr6:69343600-69344000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
19	chr6:69343600-69344000	Bivalent/Poised TSS	Fetal Kidney	kidney
20	chr6:69343600-69344200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
21	chr6:69343600-69344200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
22	chr6:69343600-69344400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr6:69343600-69344800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr6:69343600-69345800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
25	chr6:69343600-69345800	Active TSS	Rectal Smooth Muscle	rectum
26	chr6:69343600-69346200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
27	chr6:69343600-69346400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr6:69343600-69346600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
29	chr6:69343600-69346800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
30	chr6:69343600-69347200	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr6:69343600-69347400	Active TSS	Brain Substantia Nigra	brain
32	chr6:69343600-69348200	Active TSS	Right Atrium	heart
33	chr6:69343800-69344000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
34	chr6:69343800-69344000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
35	chr6:69343800-69344000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr6:69343800-69344000	Bivalent/Poised TSS	Primary B cells from cord blood	blood
37	chr6:69343800-69344000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr6:69343800-69344000	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
39	chr6:69343800-69344000	Bivalent Enhancer	Fetal Heart	heart
40	chr6:69343800-69344000	Bivalent/Poised TSS	NH-A	brain
41	chr6:69343800-69344200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr6:69343800-69344200	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr6:69343800-69344200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr6:69343800-69344200	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
45	chr6:69343800-69344200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
46	chr6:69343800-69344200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr6:69343800-69344200	Flanking Active TSS	Brain Hippocampus Middle	brain
48	chr6:69343800-69344200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
49	chr6:69343800-69344200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr6:69343800-69344200	Flanking Active TSS	K562	blood

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