Variant report

Variant	rs3020139
Chromosome Location	chr8:117900084-117900085
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:117863139..117864061-chr8:117899452..117900399,9	MCF-7	breast:
2	chr8:117800465..117801656-chr8:117899442..117900372,5	K562	blood:
3	chr8:117863150..117863953-chr8:117899408..117900347,2	MCF-7	breast:
4	chr8:117800316..117801323-chr8:117899498..117900404,4	MCF-7	breast:
5	chr8:117851704..117852650-chr8:117899512..117900352,2	K562	blood:
6	chr8:117899655..117900529-chr8:118049522..118050469,2	MCF-7	breast:

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10094803	1.00[EUR][1000 genomes]
rs10282816	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10283144	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10283150	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11990712	1.00[EUR][1000 genomes]
rs12543129	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12548885	0.93[ASN][1000 genomes]
rs12548895	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1348797	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs14795	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16888870	0.94[ASN][1000 genomes]
rs16888925	1.00[EUR][1000 genomes]
rs16888945	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16889007	1.00[EUR][1000 genomes]
rs16889037	1.00[EUR][1000 genomes]
rs16889074	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16889209	1.00[EUR][1000 genomes]
rs16889218	1.00[EUR][1000 genomes]
rs16889220	1.00[EUR][1000 genomes]
rs16889226	1.00[EUR][1000 genomes]
rs17435846	1.00[EUR][1000 genomes]
rs17435860	1.00[EUR][1000 genomes]
rs1838839	1.00[EUR][1000 genomes]
rs2241981	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2241982	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2289937	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs28462971	1.00[EUR][1000 genomes]
rs2921754	0.92[ASN][1000 genomes]
rs2921756	0.97[ASN][1000 genomes]
rs2921757	0.97[ASN][1000 genomes]
rs2921758	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2921770	1.00[ASN][1000 genomes]
rs2921771	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2921772	1.00[ASN][1000 genomes]
rs2921773	1.00[ASN][1000 genomes]
rs2921774	1.00[ASN][1000 genomes]
rs2921775	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2921776	1.00[ASN][1000 genomes]
rs2921777	1.00[ASN][1000 genomes]
rs2921778	1.00[ASN][1000 genomes]
rs2921779	1.00[ASN][1000 genomes]
rs2921780	1.00[ASN][1000 genomes]
rs2921781	1.00[ASN][1000 genomes]
rs2921782	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2921783	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2921784	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2921785	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2921786	1.00[ASN][1000 genomes]
rs2921787	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2921788	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2921789	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2921790	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2921791	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.97[ASN][1000 genomes]
rs3020109	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs3020111	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3020118	1.00[ASN][1000 genomes]
rs3020123	0.82[MEX][hapmap]
rs3020124	1.00[ASN][1000 genomes]
rs3020125	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3020126	1.00[ASN][1000 genomes]
rs3020128	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3020130	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3020131	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3020133	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3020134	1.00[ASN][1000 genomes]
rs3020135	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3020136	1.00[ASN][1000 genomes]
rs3020138	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3020140	1.00[ASN][1000 genomes]
rs3020142	1.00[ASN][1000 genomes]
rs3020174	0.92[JPT][hapmap]
rs3020181	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35189908	0.84[ASN][1000 genomes]
rs55952416	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56095633	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57202151	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6469664	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6993568	1.00[EUR][1000 genomes]
rs6996153	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap]
rs73308296	0.91[ASN][1000 genomes]
rs7820245	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7831930	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7836088	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv831434	chr8:117784467-117977825	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117899600-117900200	Enhancers	Brain Anterior Caudate	brain
2	chr8:117899600-117900200	Enhancers	Brain Hippocampus Middle	brain
3	chr8:117899600-117900200	Flanking Active TSS	Dnd41	blood
4	chr8:117899600-117900200	Enhancers	GM12878-XiMat	blood
5	chr8:117899600-117900200	Enhancers	NHLF	lung
6	chr8:117899600-117902000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:117899600-117902000	Enhancers	Hela-S3	cervix
8	chr8:117899800-117900200	Enhancers	Osteobl	bone
9	chr8:117900000-117900200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
10	chr8:117900000-117900200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:117900000-117901200	Weak transcription	HepG2	liver
12	chr8:117900000-117901800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr8:117900000-117902800	Weak transcription	HMEC	breast

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