Variant report

Variant	rs12243517
Chromosome Location	chr8:52710416-52710417
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10159957	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10218851	1.00[EUR][1000 genomes]
rs10218941	1.00[EUR][1000 genomes]
rs10437558	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11266026	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11499297	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11499337	0.86[AFR][1000 genomes]
rs11499340	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11499346	1.00[EUR][1000 genomes]
rs11499354	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11499360	1.00[EUR][1000 genomes]
rs11499362	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11499363	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11499452	1.00[EUR][1000 genomes]
rs11499453	1.00[EUR][1000 genomes]
rs12240496	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12240502	1.00[EUR][1000 genomes]
rs12240553	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12241541	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12242371	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12242787	1.00[EUR][1000 genomes]
rs12242905	1.00[EUR][1000 genomes]
rs12243528	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12245306	1.00[EUR][1000 genomes]
rs12246416	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12247170	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12247390	1.00[EUR][1000 genomes]
rs12251410	1.00[EUR][1000 genomes]
rs12251878	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12252325	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12253778	1.00[EUR][1000 genomes]
rs12255529	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12255676	1.00[EUR][1000 genomes]
rs12255875	1.00[EUR][1000 genomes]
rs12257486	1.00[EUR][1000 genomes]
rs12257491	1.00[EUR][1000 genomes]
rs12258547	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12258801	1.00[EUR][1000 genomes]
rs12259765	1.00[EUR][1000 genomes]
rs12260937	1.00[AMR][1000 genomes]
rs12261737	1.00[EUR][1000 genomes]
rs12262406	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12262732	1.00[EUR][1000 genomes]
rs12263265	0.83[EUR][1000 genomes]
rs12263276	1.00[EUR][1000 genomes]
rs12263953	1.00[EUR][1000 genomes]
rs12264099	1.00[EUR][1000 genomes]
rs12266687	1.00[EUR][1000 genomes]
rs12267505	1.00[EUR][1000 genomes]
rs12268109	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12268567	0.83[EUR][1000 genomes]
rs12269397	1.00[EUR][1000 genomes]
rs12269581	1.00[EUR][1000 genomes]
rs12762807	1.00[EUR][1000 genomes]
rs12765059	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12766999	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12768423	0.86[AFR][1000 genomes]
rs12770407	1.00[EUR][1000 genomes]
rs12772691	0.83[EUR][1000 genomes]
rs12772888	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12774539	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12775109	1.00[EUR][1000 genomes]
rs12775236	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12780512	0.83[EUR][1000 genomes]
rs12783174	1.00[EUR][1000 genomes]
rs34069859	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34172298	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34294008	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34315797	1.00[EUR][1000 genomes]
rs34435942	1.00[EUR][1000 genomes]
rs34546032	1.00[EUR][1000 genomes]
rs34764720	1.00[EUR][1000 genomes]
rs34981982	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs35270079	0.83[EUR][1000 genomes]
rs35310151	1.00[EUR][1000 genomes]
rs35491428	1.00[EUR][1000 genomes]
rs35499404	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs35506876	1.00[EUR][1000 genomes]
rs35780265	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs35786047	1.00[EUR][1000 genomes]
rs35861004	1.00[EUR][1000 genomes]
rs35877912	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs36106238	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs71502133	1.00[EUR][1000 genomes]
rs71502134	1.00[EUR][1000 genomes]
rs71502135	1.00[EUR][1000 genomes]
rs71502140	1.00[EUR][1000 genomes]
rs71502155	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs71502187	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs71503917	1.00[EUR][1000 genomes]
rs71503918	1.00[EUR][1000 genomes]
rs71503919	1.00[EUR][1000 genomes]
rs71503920	1.00[EUR][1000 genomes]
rs71503921	1.00[EUR][1000 genomes]
rs71503956	1.00[AMR][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	nsv932026	chr8:51858658-52758574	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv817615	chr8:52252405-53023384	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1018429	chr8:52411443-52878946	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv1034856	chr8:52411443-52886765	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv831316	chr8:52660353-52842928	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv1023825	chr8:52668824-52716137	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52704200-52712600	Weak transcription	Left Ventricle	heart
2	chr8:52705800-52716000	Weak transcription	Right Ventricle	heart
3	chr8:52708600-52721800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links