Variant report

Variant	rs9886217
Chromosome Location	chr7:139555631-139555632
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:139551163..139553403-chr7:139554388..139556915,3	K562	blood:
2	chr7:139555204..139557989-chr7:139563811..139565312,2	K562	blood:
3	chr7:139542430..139544176-chr7:139554608..139557543,2	K562	blood:
4	chr7:139473245..139475405-chr7:139553701..139555890,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10239087	0.88[CHB][hapmap];1.00[CHD][hapmap];0.95[ASN][1000 genomes]
rs10244528	1.00[MEX][hapmap]
rs17161175	1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs17161190	1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs17161194	0.90[EUR][1000 genomes]
rs17161198	1.00[TSI][hapmap];0.81[EUR][1000 genomes]
rs17161199	0.90[EUR][1000 genomes]
rs17161200	1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs17161201	1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs17161202	1.00[TSI][hapmap]
rs1859568	1.00[TSI][hapmap]
rs55723240	0.90[EUR][1000 genomes]
rs56380154	0.90[EUR][1000 genomes]
rs56847881	0.90[EUR][1000 genomes]
rs58206741	0.90[EUR][1000 genomes]
rs59134510	0.90[EUR][1000 genomes]
rs59445537	0.90[EUR][1000 genomes]
rs60560151	0.90[EUR][1000 genomes]
rs6651089	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6969628	1.00[ASN][1000 genomes]
rs73734120	0.90[EUR][1000 genomes]
rs73734125	0.90[EUR][1000 genomes]
rs73734133	0.90[EUR][1000 genomes]
rs9886049	1.00[ASN][1000 genomes]
rs9886179	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020234	chr7:139377822-139661964	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1032711	chr7:139411404-139684043	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv464732	chr7:139424022-139654256	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv608472	chr7:139424022-139654256	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1018712	chr7:139429703-139658014	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv831156	chr7:139532318-139694326	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139531400-139572600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr7:139545200-139559800	Weak transcription	Spleen	Spleen
3	chr7:139551800-139557000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr7:139552600-139556000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr7:139553000-139557000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr7:139553200-139556200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr7:139553400-139556000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr7:139553400-139556400	Enhancers	Primary hematopoietic stem cells	blood
9	chr7:139553600-139556200	Enhancers	Primary T cells fromperipheralblood	blood
10	chr7:139553600-139556800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr7:139553800-139556000	Enhancers	Primary T cells from cord blood	blood
12	chr7:139553800-139556000	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr7:139553800-139556200	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr7:139553800-139570400	Weak transcription	Right Atrium	heart
15	chr7:139554000-139556000	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr7:139554000-139556000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr7:139554000-139556000	Enhancers	GM12878-XiMat	blood
18	chr7:139554000-139556200	Enhancers	Duodenum Mucosa	Duodenum
19	chr7:139554000-139556200	Enhancers	Fetal Thymus	thymus
20	chr7:139554200-139556000	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr7:139554200-139556200	Enhancers	Primary B cells from peripheral blood	blood
22	chr7:139554400-139556000	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr7:139554400-139561600	Weak transcription	Esophagus	oesophagus
24	chr7:139555000-139556200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr7:139555200-139555800	Enhancers	Stomach Mucosa	stomach
26	chr7:139555200-139556000	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr7:139555400-139556000	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr7:139555400-139556000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr7:139555400-139559400	Weak transcription	Adipose Nuclei	Adipose
30	chr7:139555600-139555800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
31	chr7:139555600-139555800	Enhancers	K562	blood
32	chr7:139555600-139556400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr7:139555600-139560400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr7:139555600-139569800	Weak transcription	Lung	lung
35	chr7:139555600-139571800	Weak transcription	Thymus	Thymus

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