Variant report

Variant	nsv972525
Chromosome Location	chr8:11706325-11714357
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:713)
CpG islands
(count:61)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:713 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:11710564-11710991	HepG2	liver:	n/a	n/a
2	ARID3A	chr8:11711460-11711976	HepG2	liver:	n/a	n/a
3	ATF3	chr8:11711440-11711869	K562	blood:	n/a	chr8:11711746-11711755
4	ATF3	chr8:11711190-11711884	A549	lung:	n/a	chr8:11711746-11711755
5	ATF3	chr8:11711524-11711774	K562	blood:	n/a	chr8:11711746-11711755
6	BCL3	chr8:11706000-11706740	GM12878	blood:	n/a	n/a
7	BHLHE40	chr8:11711404-11711808	HepG2	liver:	n/a	chr8:11711744-11711760
8	BHLHE40	chr8:11711347-11711840	K562	blood:	n/a	chr8:11711744-11711760
9	BHLHE40	chr8:11710506-11711068	HepG2	liver:	n/a	n/a
10	BHLHE40	chr8:11706613-11706766	K562	blood:	n/a	n/a
11	BRCA1	chr8:11711628-11711773	HepG2	liver:	n/a	n/a
12	BRCA1	chr8:11706580-11706662	HepG2	liver:	n/a	n/a
13	BRCA1	chr8:11711001-11711113	HepG2	liver:	n/a	n/a
14	BRCA1	chr8:11710082-11710233	HepG2	liver:	n/a	n/a
15	CBX3	chr8:11711380-11711901	K562	blood:	n/a	n/a
16	CCNT2	chr8:11706290-11706696	K562	blood:	n/a	n/a
17	CCNT2	chr8:11711432-11711904	K562	blood:	n/a	chr8:11711729-11711738
18	CEBPB	chr8:11710810-11710957	HepG2	liver:	n/a	n/a
19	CEBPB	chr8:11706943-11707237	HepG2	liver:	n/a	chr8:11707145-11707156 chr8:11706972-11706983
20	CEBPB	chr8:11707001-11707282	HepG2	liver:	n/a	chr8:11707145-11707156
21	CEBPB	chr8:11706859-11707301	HepG2	liver:	n/a	chr8:11707145-11707156 chr8:11706972-11706983
22	CEBPB	chr8:11711496-11711954	A549	lung:	n/a	n/a
23	CEBPB	chr8:11707016-11707302	IMR90	lung:	n/a	chr8:11707145-11707156
24	CEBPB	chr8:11707017-11707237	HepG2	liver:	n/a	chr8:11707145-11707156
25	CEBPB	chr8:11707035-11707297	A549	lung:	n/a	chr8:11707145-11707156
26	CEBPB	chr8:11707051-11707253	K562	blood:	n/a	chr8:11707145-11707156
27	CEBPB	chr8:11706904-11707252	ECC-1	luminal epithelium:	n/a	chr8:11707145-11707156 chr8:11706972-11706983
28	CEBPB	chr8:11710530-11711105	HepG2	liver:	n/a	n/a
29	CEBPB	chr8:11710606-11711082	HepG2	liver:	n/a	n/a
30	CEBPB	chr8:11706962-11707287	ECC-1	luminal epithelium:	n/a	chr8:11707145-11707156 chr8:11706972-11706983
31	CEBPB	chr8:11711101-11712030	HCT-116	colon:	n/a	n/a
32	CEBPB	chr8:11711378-11711963	Hela-S3	cervix:	n/a	n/a
33	CEBPB	chr8:11711296-11712090	IMR90	lung:	n/a	n/a
34	CEBPB	chr8:11707029-11707248	H1-hESC	embryonic stem cell:	n/a	chr8:11707145-11707156
35	CEBPB	chr8:11711637-11711973	K562	blood:	n/a	n/a
36	CEBPB	chr8:11707013-11707297	Hela-S3	cervix:	n/a	chr8:11707145-11707156
37	CEBPB	chr8:11711480-11711989	HepG2	liver:	n/a	n/a
38	CEBPB	chr8:11711332-11712092	A549	lung:	n/a	n/a
39	CEBPD	chr8:11706156-11706496	HepG2	liver:	n/a	n/a
40	CEBPD	chr8:11706997-11707350	HepG2	liver:	n/a	n/a
41	CEBPD	chr8:11710589-11711079	HepG2	liver:	n/a	n/a
42	CHD1	chr8:11710766-11712015	IMR90	lung:	n/a	chr8:11711747-11711757
43	CHD2	chr8:11708145-11708541	HepG2	liver:	n/a	n/a
44	CHD2	chr8:11710189-11711212	HepG2	liver:	n/a	n/a
45	CHD2	chr8:11710882-11710984	K562	blood:	n/a	n/a
46	CHD2	chr8:11706516-11706612	Hela-S3	cervix:	n/a	n/a
47	CHD2	chr8:11711492-11711820	Hela-S3	cervix:	n/a	chr8:11711747-11711757
48	CHD2	chr8:11704595-11706832	HepG2	liver:	n/a	n/a
49	CHD2	chr8:11711428-11711897	HepG2	liver:	n/a	chr8:11711747-11711757
50	CREB1	chr8:11711466-11711815	A549	lung:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:11710911-11710961	BE2_C	brain:	n/a
2	chr8:11710911-11710961	Caco-2	colon:	n/a
3	chr8:11710911-11710961	GM06990	blood:	n/a
4	chr8:11710911-11710961	IMR90	lung:	fetal
5	chr8:11710911-11710961	Hepatocyte	liver:	n/a
6	chr8:11710911-11710961	NHBE	bronchial:	n/a
7	chr8:11710911-11710961	AG04449	skin:	fetal
8	chr8:11710911-11710961	GM12892	blood:	n/a
9	chr8:11710911-11710961	U87	brain:	n/a
10	chr8:11710911-11710961	AoSMC	blood vessel:	n/a
11	chr8:11710911-11710961	NH-A	brain:	n/a
12	chr8:11710911-11710961	PFSK-1	brain:	n/a
13	chr8:11710911-11710961	HNPCEpiC	eye:	n/a
14	chr8:11710911-11710961	NHDF-neo	bronchial:	n/a
15	chr8:11710911-11710961	NB4	blood:	n/a
16	chr8:11710911-11710961	HMEC	breast:	n/a
17	chr8:11710911-11710961	PrEC	prostate:	n/a
18	chr8:11710911-11710961	RPTEC	kidney:	n/a
19	chr8:11710911-11710961	SK-N-SH_RA	brain:	n/a
20	chr8:11710911-11710961	AG09319	gingival:	n/a
21	chr8:11710911-11710961	GM12878	blood:	n/a
22	chr8:11710911-11710961	HEEpiC	esophagus:	n/a
23	chr8:11710911-11710961	SAEC	small airway:	n/a
24	chr8:11710911-11710961	HPAEpiC	pulmonary alveolar:	n/a
25	chr8:11710911-11710961	SKMC	muscle:	n/a
26	chr8:11710911-11710961	MCF10A-Er-Src	breast:	n/a
27	chr8:11710911-11710961	AG10803	skin:	n/a
28	chr8:11710911-11710961	HepG2	liver:	n/a
29	chr8:11710911-11710961	HRCEpiC	kidney:	n/a
30	chr8:11710911-11710961	BJ	skin:	n/a
31	chr8:11710911-11710961	HRE	kidney:	n/a
32	chr8:11710911-11710961	AG04450	lung:	fetal
33	chr8:11710911-11710961	PANC-1	pancreas:	n/a
34	chr8:11710911-11710961	GM19239	blood:	n/a
35	chr8:11710911-11710961	H1-hESC	embryonic stem cell:	embryo
36	chr8:11710911-11710961	CMK	blood:	n/a
37	chr8:11710911-11710961	AG09309	skin:	n/a
38	chr8:11710911-11710961	HCPEpiC	choroid plexus:	n/a
39	chr8:11710911-11710961	SK-N-MC	brain:	n/a
40	chr8:11710911-11710961	SK-N-SH	brain:	n/a
41	chr8:11710911-11710961	HEK293	kidney:	embryo
42	chr8:11710911-11710961	Hela-S3	cervix:	n/a
43	chr8:11710911-11710961	LNCaP	prostate:	n/a
44	chr8:11710911-11710961	MCF-7	breast:	n/a
45	chr8:11710911-11710961	ECC-1	luminal epithelium:	n/a
46	chr8:11710911-11710961	HCM	heart:	n/a
47	chr8:11710911-11710961	HIPEpiC	eye:	n/a
48	chr8:11710911-11710961	T-47D	breast:	n/a
49	chr8:11710911-11710961	NT2-D1	testis:	n/a
50	chr8:11710911-11710961	HL-60	blood:	n/a

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:11708512..11715317-chr8:11723234..11727095,9	MCF-7	breast:
2	chr8:11665243..11667469-chr8:11710761..11712863,3	MCF-7	breast:
3	chr8:11662566..11665636-chr8:11705504..11707081,3	K562	blood:
4	chr8:11701923..11705144-chr8:11709953..11712815,3	K562	blood:
5	chr8:11625966..11628578-chr8:11704558..11706433,2	MCF-7	breast:
6	chr8:11664303..11666890-chr8:11705423..11707941,2	MCF-7	breast:
7	chr8:11708825..11713035-chr8:11718721..11724039,7	MCF-7	breast:
8	chr8:11706164..11707709-chr8:11709253..11711783,2	K562	blood:
9	chr8:11706290..11708186-chr8:11724044..11726922,3	MCF-7	breast:
10	chr8:11706164..11707709-chr8:11709253..11711783,2	K562	blood:
11	chr8:11710836..11712408-chr8:11724380..11726355,2	MCF-7	breast:
12	chr8:11709901..11713097-chr8:11718255..11721625,5	MCF-7	breast:
13	chr8:11710197..11714536-chr8:11724997..11727273,4	K562	blood:
14	chr8:11714135..11717431-chr8:11717814..11720890,3	K562	blood:
15	chr8:11710201..11712259-chr8:11713212..11714755,2	MCF-7	breast:

No data

Variant related genes	Relation type
CTSB	TF binding region
ENSG00000269899	TF binding region
CTSB	CpG island
ENSG00000269899	CpG island
ENSG00000079459	chromatin interactions
ENSG00000154328	chromatin interactions
ENSG00000164733	chromatin interactions
ENSG00000269899	chromatin interactions

Extended variants
information (count: 666 )
Associated
traits (count: 140 )

Variant overlapped rSNPs/rCNVs (count:666 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559757914	chr8:11706330-11706331	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs530023749	chr8:11706353-11706354	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs112769615	chr8:11706360-11706361	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs187959936	chr8:11706361-11706362	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs531179506	chr8:11706368-11706369	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs115776626	chr8:11706397-11706398	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs571016762	chr8:11706400-11706401	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs149797657	chr8:11706418-11706419	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs553372733	chr8:11706424-11706425	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs372377807	chr8:11706425-11706426	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs565697292	chr8:11706427-11706428	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs535854098	chr8:11706428-11706429	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs554896119	chr8:11706429-11706430	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs375334854	chr8:11706439-11706440	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs543651957	chr8:11706449-11706450	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs111737488	chr8:11706453-11706454	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs538164986	chr8:11706469-11706470	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs527985609	chr8:11706470-11706471	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs145828603	chr8:11706472-11706473	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs577438858	chr8:11706483-11706484	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs547935699	chr8:11706489-11706490	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs567541253	chr8:11706495-11706496	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs541569358	chr8:11706502-11706503	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs368522482	chr8:11706503-11706504	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs559873033	chr8:11706511-11706512	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs28592650	chr8:11706513-11706514	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs373588083	chr8:11706514-11706515	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs568655805	chr8:11706517-11706518	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs371815145	chr8:11706519-11706520	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs368911378	chr8:11706530-11706531	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs567257300	chr8:11706544-11706545	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs199582927	chr8:11706546-11706547	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs113653874	chr8:11706554-11706555	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs145256597	chr8:11706557-11706558	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs1137069	chr8:11706560-11706561	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs140800384	chr8:11706563-11706564	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs13332	chr8:11706581-11706582	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs201645578	chr8:11706589-11706590	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs200926074	chr8:11706590-11706591	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs138936863	chr8:11706596-11706597	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs540616476	chr8:11706599-11706600	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs367716612	chr8:11706600-11706601	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs569307763	chr8:11706610-11706611	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs11548597	chr8:11706611-11706612	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs369634051	chr8:11706623-11706624	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs536248833	chr8:11706643-11706644	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs374071844	chr8:11706662-11706663	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs149411885	chr8:11706672-11706673	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs79702619	chr8:11706683-11706684	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs537317363	chr8:11706691-11706692	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:140)

Disease	PMID	Source
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Developmental disorder	20461109	CNVD
abnormal development	18461090	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Gastric cancer	21811585	CNVD
Colorectal cancer	16774939	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	20164919	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:636 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11667000-11711000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:11669400-11708000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:11675200-11707000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:11675800-11712600	Strong transcription	Dnd41	blood
5	chr8:11677600-11708200	Strong transcription	Cortex derived primary cultured neurospheres	brain
6	chr8:11677600-11710600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:11677600-11711800	Strong transcription	Fetal Brain Female	brain
8	chr8:11677800-11706600	Strong transcription	NHLF	lung
9	chr8:11678000-11707400	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr8:11678200-11706800	Strong transcription	H1 Cell Line	embryonic stem cell
11	chr8:11678400-11706400	Strong transcription	Sigmoid Colon	Sigmoid Colon
12	chr8:11678600-11708600	Strong transcription	HUVEC	blood vessel
13	chr8:11679000-11715200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr8:11679200-11710400	Strong transcription	NHDF-Ad	bronchial
15	chr8:11679200-11710800	Strong transcription	Fetal Stomach	stomach
16	chr8:11680400-11706600	Strong transcription	HepG2	liver
17	chr8:11682200-11713000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr8:11682400-11712600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr8:11683000-11713200	Strong transcription	Primary B cells from peripheral blood	blood
20	chr8:11683200-11706600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr8:11683200-11710000	Strong transcription	NH-A	brain
22	chr8:11683400-11711600	Strong transcription	Brain Germinal Matrix	brain
23	chr8:11683600-11708600	Strong transcription	Primary hematopoietic stem cells	blood
24	chr8:11683600-11712600	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr8:11685600-11710600	Strong transcription	HSMM	muscle
26	chr8:11689400-11706400	Strong transcription	Fetal Intestine Small	intestine
27	chr8:11690400-11710200	Strong transcription	Fetal Intestine Large	intestine
28	chr8:11691600-11710600	Strong transcription	Pancreas	Pancrea
29	chr8:11691600-11711200	Strong transcription	Spleen	Spleen
30	chr8:11691800-11710600	Strong transcription	HSMMtube	muscle
31	chr8:11691800-11711000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr8:11692000-11711000	Strong transcription	Fetal Muscle Leg	muscle
33	chr8:11692000-11711200	Strong transcription	Fetal Thymus	thymus
34	chr8:11692200-11711000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr8:11692400-11710600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr8:11693400-11710400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr8:11693800-11708600	Strong transcription	Aorta	Aorta
38	chr8:11694200-11706400	Strong transcription	Liver	Liver
39	chr8:11695000-11706400	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr8:11695400-11710600	Strong transcription	Osteobl	bone
41	chr8:11698600-11716600	Strong transcription	Primary T cells from cord blood	blood
42	chr8:11698800-11711000	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr8:11699000-11708800	Strong transcription	Ovary	ovary
44	chr8:11699000-11710800	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr8:11699200-11706600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr8:11699200-11710600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr8:11699200-11710600	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr8:11699400-11706600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr8:11699400-11710400	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr8:11700000-11711200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links