Variant report

Variant	rs12520276
Chromosome Location	chr5:42564562-42564563
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10941578	0.84[CHB][hapmap];0.90[JPT][hapmap]
rs10941579	0.95[ASN][1000 genomes]
rs11948453	1.00[JPT][hapmap]
rs11949751	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12515372	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs12516901	0.91[ASN][1000 genomes]
rs12521020	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs28943879	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs28943881	0.91[ASN][1000 genomes]
rs34466913	0.91[ASN][1000 genomes]
rs4075783	0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4242115	1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs4305645	1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs4314405	0.83[CHB][hapmap];0.90[JPT][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4484445	1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs4489074	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4493680	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs4496716	0.92[ASN][1000 genomes]
rs4504390	0.92[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4533898	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4554233	1.00[JPT][hapmap]
rs4866791	1.00[JPT][hapmap]
rs4866936	0.92[CHB][hapmap];0.90[JPT][hapmap]
rs55696942	0.95[ASN][1000 genomes]
rs61197005	0.92[ASN][1000 genomes]
rs6451626	1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs6859653	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs6865492	0.95[ASN][1000 genomes]
rs6887718	1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs6896667	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7703713	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs7721816	1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs7735889	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs9968669	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	nsv1020464	chr5:42488628-42699394	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1018751	chr5:42491883-42697923	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42555400-42566000	Enhancers	Liver	Liver
2	chr5:42556200-42565600	Weak transcription	Right Ventricle	heart
3	chr5:42557600-42565000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr5:42561800-42565000	Weak transcription	Ovary	ovary
5	chr5:42561800-42565600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr5:42562200-42565000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:42562400-42566000	Weak transcription	Colon Smooth Muscle	Colon
8	chr5:42562600-42565000	Weak transcription	Left Ventricle	heart
9	chr5:42562600-42565000	Weak transcription	Psoas Muscle	Psoas
10	chr5:42562600-42565200	Weak transcription	Fetal Stomach	stomach
11	chr5:42562800-42564800	Weak transcription	Fetal Heart	heart
12	chr5:42562800-42565800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr5:42563200-42565000	Weak transcription	Fetal Lung	lung
14	chr5:42563400-42565400	Weak transcription	Adipose Nuclei	Adipose
15	chr5:42563400-42565600	Weak transcription	Right Atrium	heart
16	chr5:42564000-42565000	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr5:42564400-42565000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:42564400-42565000	Enhancers	HMEC	breast
19	chr5:42564400-42565000	Enhancers	NHEK	skin

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