Variant report

Variant	esv3403583
Chromosome Location	chr6:35887399-35889947
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:674)
CpG islands
(count:855)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:674 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:35888659-35889379	K562	blood:	n/a	n/a
2	ARID3A	chr6:35886630-35887823	K562	blood:	n/a	n/a
3	ARID3A	chr6:35888701-35889573	HepG2	liver:	n/a	n/a
4	ATF2	chr6:35887467-35887971	GM12878	blood:	n/a	n/a
5	BACH1	chr6:35888617-35889379	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr6:35888048-35888172	K562	blood:	n/a	n/a
7	BACH1	chr6:35888993-35889345	K562	blood:	n/a	n/a
8	BCLAF1	chr6:35887289-35887878	GM12878	blood:	n/a	n/a
9	BHLHE40	chr6:35888707-35889283	HepG2	liver:	n/a	n/a
10	BHLHE40	chr6:35887233-35888061	GM12878	blood:	n/a	n/a
11	BHLHE40	chr6:35888646-35889256	GM12878	blood:	n/a	n/a
12	BHLHE40	chr6:35888736-35889264	K562	blood:	n/a	n/a
13	BHLHE40	chr6:35887381-35888217	K562	blood:	n/a	n/a
14	BRCA1	chr6:35888076-35888177	HepG2	liver:	n/a	n/a
15	BRCA1	chr6:35886878-35887969	Hela-S3	cervix:	n/a	n/a
16	BRCA1	chr6:35888742-35889075	Hela-S3	cervix:	n/a	n/a
17	CBX3	chr6:35887268-35888343	K562	blood:	n/a	n/a
18	CBX3	chr6:35888966-35889378	K562	blood:	n/a	n/a
19	CBX3	chr6:35888561-35889381	K562	blood:	n/a	n/a
20	CCNT2	chr6:35888000-35889121	K562	blood:	n/a	n/a
21	CEBPB	chr6:35888804-35888861	HepG2	liver:	n/a	n/a
22	CEBPB	chr6:35887702-35888250	HepG2	liver:	n/a	chr6:35888063-35888074
23	CEBPB	chr6:35887867-35888258	HepG2	liver:	n/a	chr6:35888063-35888074
24	CEBPB	chr6:35887975-35888234	A549	lung:	n/a	chr6:35888063-35888074
25	CEBPB	chr6:35887663-35888224	IMR90	lung:	n/a	chr6:35888063-35888074
26	CEBPB	chr6:35887958-35888247	H1-hESC	embryonic stem cell:	n/a	chr6:35888063-35888074
27	CEBPB	chr6:35887691-35888262	K562	blood:	n/a	chr6:35888063-35888074
28	CEBPB	chr6:35887994-35888182	K562	blood:	n/a	chr6:35888063-35888074
29	CEBPB	chr6:35886833-35888242	Hela-S3	cervix:	n/a	chr6:35887017-35887030 chr6:35888063-35888074 chr6:35887014-35887031
30	CEBPB	chr6:35887928-35888183	HepG2	liver:	n/a	chr6:35888063-35888074
31	CEBPB	chr6:35887570-35888308	K562	blood:	n/a	chr6:35888063-35888074
32	CEBPD	chr6:35888615-35889232	HepG2	liver:	n/a	n/a
33	CHD1	chr6:35887187-35888015	GM12878	blood:	n/a	n/a
34	CHD1	chr6:35888651-35889353	GM12878	blood:	n/a	chr6:35889127-35889134
35	CHD1	chr6:35888617-35889233	H1-hESC	embryonic stem cell:	n/a	chr6:35889127-35889134
36	CHD2	chr6:35888697-35889100	H1-hESC	embryonic stem cell:	n/a	n/a
37	CHD2	chr6:35888742-35889031	K562	blood:	n/a	n/a
38	CHD2	chr6:35888652-35889188	Hela-S3	cervix:	n/a	chr6:35889127-35889134
39	CHD2	chr6:35888783-35889020	HepG2	liver:	n/a	n/a
40	CHD2	chr6:35888751-35889119	GM12878	blood:	n/a	n/a
41	CREB1	chr6:35888659-35889200	H1-hESC	embryonic stem cell:	n/a	n/a
42	CREB1	chr6:35888605-35889110	A549	lung:	n/a	n/a
43	CTCF	chr6:35888780-35888930	GM12874	blood:	n/a	n/a
44	CTCF	chr6:35888880-35889030	GM12869	blood:	n/a	chr6:35889001-35889014
45	CTCF	chr6:35888680-35888830	GM12872	blood:	n/a	n/a
46	CTCF	chr6:35888700-35888850	K562	blood:	n/a	n/a
47	CTCF	chr6:35888200-35888350	GM12872	blood:	n/a	n/a
48	CTCF	chr6:35888976-35889022	GM12878	blood:	n/a	chr6:35889001-35889014
49	CTCF	chr6:35888767-35888818	MCF-7	breast:	n/a	n/a
50	CTCF	chr6:35888680-35888830	HEK293	kidney:	n/a	n/a

(count:855 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:35889047-35889097	GM12878	blood:	n/a
2	chr6:35889047-35889097	GM12878	blood:	n/a
3	chr6:35889177-35889227	Hepatocyte	liver:	n/a
4	chr6:35889047-35889097	MCF-7	breast:	n/a
5	chr6:35888551-35888601	NH-A	brain:	n/a
6	chr6:35888709-35888759	HL-60	blood:	n/a
7	chr6:35887842-35887892	HCPEpiC	choroid plexus:	n/a
8	chr6:35888551-35888601	BJ	skin:	n/a
9	chr6:35888709-35888759	NT2-D1	testis:	n/a
10	chr6:35888551-35888601	GM06990	blood:	n/a
11	chr6:35887710-35887760	SKMC	muscle:	n/a
12	chr6:35888551-35888601	GM19239	blood:	n/a
13	chr6:35889141-35889191	HRCEpiC	kidney:	n/a
14	chr6:35888551-35888601	AG09319	gingival:	n/a
15	chr6:35888298-35888348	HPAEpiC	pulmonary alveolar:	n/a
16	chr6:35889059-35889109	Jurkat	blood:	n/a
17	chr6:35889047-35889097	PANC-1	pancreas:	n/a
18	chr6:35887678-35887728	HCM	heart:	n/a
19	chr6:35888551-35888601	MCF-7	breast:	n/a
20	chr6:35888551-35888601	NB4	blood:	n/a
21	chr6:35889893-35889943	Hela-S3	cervix:	n/a
22	chr6:35889059-35889109	A549	lung:	n/a
23	chr6:35889047-35889097	U87	brain:	n/a
24	chr6:35888891-35888941	PANC-1	pancreas:	n/a
25	chr6:35887842-35887892	BE2_C	brain:	n/a
26	chr6:35889141-35889191	K562	blood:	n/a
27	chr6:35889141-35889191	Hepatocyte	liver:	n/a
28	chr6:35889047-35889097	NT2-D1	testis:	n/a
29	chr6:35888551-35888601	AG04450	lung:	fetal
30	chr6:35889141-35889191	HCF	heart:	n/a
31	chr6:35888891-35888941	SK-N-SH_RA	brain:	n/a
32	chr6:35887678-35887728	HCF	heart:	n/a
33	chr6:35889059-35889109	SK-N-MC	brain:	n/a
34	chr6:35889141-35889191	GM12891	blood:	n/a
35	chr6:35888551-35888601	A549	lung:	n/a
36	chr6:35889059-35889109	Hepatocyte	liver:	n/a
37	chr6:35887842-35887892	HepG2	liver:	n/a
38	chr6:35887710-35887760	LNCaP	prostate:	n/a
39	chr6:35888885-35888935	H1-hESC	embryonic stem cell:	embryo
40	chr6:35887678-35887728	A549	lung:	n/a
41	chr6:35887710-35887760	HCM	heart:	n/a
42	chr6:35889047-35889097	T-47D	breast:	n/a
43	chr6:35889141-35889191	AoSMC	blood vessel:	n/a
44	chr6:35887842-35887892	Caco-2	colon:	n/a
45	chr6:35889177-35889227	Jurkat	blood:	n/a
46	chr6:35887710-35887760	PFSK-1	brain:	n/a
47	chr6:35889047-35889097	HRPEpiC	eye:	n/a
48	chr6:35889177-35889227	GM12891	blood:	n/a
49	chr6:35888709-35888759	HUVEC	blood vessel:	n/a
50	chr6:35889141-35889191	HRPEpiC	eye:	n/a

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:64970728..64971278-chr6:35887063..35888020,2	Hela-S3	cervix:
2	chr6:35885785..35888471-chr6:35920108..35922574,2	K562	blood:
3	chr1:150551961..150552659-chr6:35888288..35889046,2	HCT-116	colon:
4	chr6:35838681..35841453-chr6:35887224..35888776,2	K562	blood:
5	chr6:35888094..35890859-chr6:36167243..36169952,2	K562	blood:
6	chr6:35860038..35862561-chr6:35885044..35887926,2	K562	blood:
7	chr6:35887479..35890120-chr6:35993309..35995768,2	K562	blood:
8	chr6:35886000..35887918-chr6:36163622..36165328,2	K562	blood:
9	chr6:35886849..35889245-chr6:35993978..35995751,2	MCF-7	breast:
10	chr3:171528194..171528717-chr6:35888092..35888997,2	NB4	blood:
11	chr16:27324243..27326637-chr6:35887924..35890289,2	MCF-7	breast:
12	chr19:10443927..10444613-chr6:35888308..35889181,2	NB4	blood:
13	chr6:35889868..35892121-chr6:35927053..35928934,3	K562	blood:
14	chr6:35825264..35827531-chr6:35887069..35888745,2	K562	blood:
15	chr20:48599386..48600036-chr6:35888358..35888945,2	Hela-S3	cervix:
16	chr15:68570051..68570582-chr6:35887669..35888429,2	Hela-S3	cervix:
17	chr3:73045580..73046248-chr6:35888673..35889189,2	HCT-116	colon:

No data

Variant related genes	Relation type
SRPK1	TF binding region
SRPK1	CpG island
ENSG00000143384	chromatin interactions
ENSG00000096063	chromatin interactions
ENSG00000260657	chromatin interactions
ENSG00000096070	chromatin interactions
ENSG00000163605	chromatin interactions
ENSG00000161847	chromatin interactions
ENSG00000169018	chromatin interactions
ENSG00000075651	chromatin interactions
ENSG00000246982	chromatin interactions
ENSG00000077238	chromatin interactions
ENSG00000124216	chromatin interactions
ENSG00000112062	chromatin interactions

Extended variants
information (count: 100 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558596796	chr6:35887423-35887424	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs531908904	chr6:35887426-35887427	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs639421	chr6:35887466-35887467	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs144518763	chr6:35887528-35887529	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs192455823	chr6:35887562-35887563	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs574234493	chr6:35887563-35887564	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs183795450	chr6:35887590-35887591	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs561175972	chr6:35887675-35887676	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs148005489	chr6:35887684-35887685	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs377476872	chr6:35887755-35887756	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs143089457	chr6:35887757-35887758	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs530030838	chr6:35887762-35887763	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs565446724	chr6:35887805-35887806	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs73729624	chr6:35887834-35887835	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs187645379	chr6:35887856-35887857	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs145933187	chr6:35887865-35887866	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs536775345	chr6:35887870-35887871	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs375821459	chr6:35887928-35887929	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs368352231	chr6:35887930-35887931	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs548678856	chr6:35887948-35887949	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs550044674	chr6:35887974-35887975	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs570134918	chr6:35887977-35887978	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs537254687	chr6:35887990-35887991	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs558674125	chr6:35887993-35887994	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs374596324	chr6:35887999-35888000	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs577114119	chr6:35888000-35888001	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs368011643	chr6:35888030-35888031	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs534911589	chr6:35888039-35888040	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs662713	chr6:35888067-35888068	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs574073816	chr6:35888102-35888103	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs191349110	chr6:35888118-35888119	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs563058939	chr6:35888126-35888127	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs371381324	chr6:35888202-35888203	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs574952652	chr6:35888227-35888228	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs199911564	chr6:35888232-35888233	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs201524968	chr6:35888237-35888238	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs374532523	chr6:35888253-35888254	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs375566508	chr6:35888262-35888263	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs200997879	chr6:35888274-35888275	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs532732192	chr6:35888289-35888290	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs13191361	chr6:35888311-35888312	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
42	rs369779020	chr6:35888314-35888315	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
43	rs386700164	chr6:35888336-35888337	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
44	rs200745553	chr6:35888346-35888347	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
45	rs13191384	chr6:35888372-35888373	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
46	rs13191482	chr6:35888378-35888379	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
47	rs559811719	chr6:35888380-35888381	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
48	rs530137035	chr6:35888381-35888382	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
49	rs548564448	chr6:35888395-35888396	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
50	rs563385914	chr6:35888434-35888435	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:108)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
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
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
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	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
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Systemic lupus erythematosus	19279649	CNVD
Retinoblastoma	16790693	CNVD
Acute myocardial infarction	18032375	CNVD
Renal cell carcinoma	19150565	CNVD
Systemic lupus erythematosus	19591781	CNVD
Attention deficit hyperactivity disorder	19287146	CNVD
Autism	19287146	CNVD
Erythema nodosum in leprosy	19287146	CNVD
Henoch-schoenlein purpura	19287146	CNVD
Liver cirrhosis	19287146	CNVD
Systemic lupus erythematosus	19287146	CNVD
Autoimmune disease	19135723	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	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
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Lung cancer	19153074	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:421 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35837400-35887400	Weak transcription	Gastric	stomach
2	chr6:35838600-35887400	Weak transcription	Small Intestine	intestine
3	chr6:35874000-35887400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr6:35874600-35887400	Weak transcription	Ovary	ovary
5	chr6:35877600-35887400	Weak transcription	Lung	lung
6	chr6:35878400-35887600	Weak transcription	Spleen	Spleen
7	chr6:35880800-35887400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:35880800-35887400	Weak transcription	Left Ventricle	heart
9	chr6:35881400-35887400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr6:35882400-35887400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr6:35884200-35887400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:35885000-35887400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr6:35885000-35887800	Transcr. at gene 5' and 3'	K562	blood
14	chr6:35885000-35888200	Transcr. at gene 5' and 3'	Dnd41	blood
15	chr6:35885600-35887400	Enhancers	Primary B cells from peripheral blood	blood
16	chr6:35886000-35889200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:35886000-35889200	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr6:35886000-35889800	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr6:35886000-35890000	Active TSS	GM12878-XiMat	blood
20	chr6:35886200-35887800	Flanking Active TSS	Fetal Brain Female	brain
21	chr6:35886200-35888200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr6:35886200-35888400	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr6:35886200-35889400	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr6:35886200-35889600	Active TSS	Fetal Intestine Large	intestine
25	chr6:35886400-35887400	Enhancers	Fetal Heart	heart
26	chr6:35886400-35887600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr6:35886400-35887600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr6:35886400-35888000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr6:35886400-35888000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr6:35886400-35888200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
31	chr6:35886400-35888200	Flanking Active TSS	HUVEC	blood vessel
32	chr6:35886400-35888400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr6:35886400-35888400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr6:35886400-35888400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr6:35886400-35889400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr6:35886400-35889400	Active TSS	Brain Anterior Caudate	brain
37	chr6:35886400-35889600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr6:35886400-35889600	Active TSS	Brain Cingulate Gyrus	brain
39	chr6:35886400-35889600	Active TSS	HMEC	breast
40	chr6:35886400-35890400	Active TSS	A549	lung
41	chr6:35886600-35887400	Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr6:35886600-35887400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr6:35886600-35887600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr6:35886600-35888000	Flanking Active TSS	Primary T cells from cord blood	blood
45	chr6:35886600-35888200	Flanking Active TSS	Primary B cells from cord blood	blood
46	chr6:35886600-35888200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr6:35886600-35889000	Active TSS	Primary neutrophils fromperipheralblood	blood
48	chr6:35886600-35889200	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr6:35886600-35889600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr6:35886800-35887400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links