Variant report

Variant	rs12677123
Chromosome Location	chr8:52563029-52563030
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10102654	0.85[ASN][1000 genomes]
rs10958285	0.83[ASN][1000 genomes]
rs10958291	0.91[ASN][1000 genomes]
rs10958293	0.97[ASN][1000 genomes]
rs10958294	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11775179	0.82[AFR][1000 genomes]
rs11781376	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11782339	0.96[ASN][1000 genomes]
rs12548130	0.97[ASN][1000 genomes]
rs12548147	0.89[AFR][1000 genomes]
rs13251959	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13264256	0.85[ASN][1000 genomes]
rs13265125	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13268396	0.89[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs13268711	0.86[EUR][1000 genomes]
rs13274101	0.87[EUR][1000 genomes]
rs13279418	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16916673	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16916756	0.96[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs28492012	0.91[ASN][1000 genomes]
rs34228216	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34276635	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35153909	0.96[AFR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35365537	0.81[EUR][1000 genomes]
rs36052716	0.83[AFR][1000 genomes]
rs36070314	0.91[ASN][1000 genomes]
rs4275221	0.86[EUR][1000 genomes]
rs4291264	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4469447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4873199	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4873568	0.97[ASN][1000 genomes]
rs4873572	0.80[EUR][1000 genomes]
rs4873573	0.96[AFR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6981117	0.97[ASN][1000 genomes]
rs6981313	0.97[ASN][1000 genomes]
rs6987346	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6995555	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6998137	0.83[ASN][1000 genomes]
rs7000785	0.97[ASN][1000 genomes]
rs7007297	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7823666	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7831588	0.85[ASN][1000 genomes]
rs7836565	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7845169	0.83[ASN][1000 genomes]
rs9643785	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9650178	0.97[ASN][1000 genomes]
rs9650303	0.87[EUR][1000 genomes];0.83[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	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	nsv890895	chr8:52190571-52615191	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	nsv831313	chr8:52458835-52638968	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr8:52559600-52565600	Weak transcription	Aorta	Aorta
2	chr8:52559600-52565600	Weak transcription	Psoas Muscle	Psoas
3	chr8:52559600-52570400	Weak transcription	Left Ventricle	heart
4	chr8:52559800-52564200	Weak transcription	Fetal Lung	lung
5	chr8:52560400-52567800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr8:52561200-52564000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr8:52562800-52568600	Enhancers	Fetal Heart	heart
8	chr8:52563000-52563200	Enhancers	GM12878-XiMat	blood
9	chr8:52563000-52563400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:52563000-52563400	Enhancers	Fetal Brain Male	brain
11	chr8:52563000-52563400	Enhancers	Right Atrium	heart
12	chr8:52563000-52563400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr8:52563000-52564800	Enhancers	Adipose Nuclei	Adipose

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