Variant report

Variant	rs12519087
Chromosome Location	chr5:97753484-97753485
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10035546	1.00[ASN][1000 genomes]
rs10036788	0.89[ASN][1000 genomes]
rs10036839	0.89[ASN][1000 genomes]
rs10050404	1.00[CEU][hapmap]
rs10050543	1.00[ASN][1000 genomes]
rs10054643	0.89[ASN][1000 genomes]
rs10076590	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11950953	0.89[ASN][1000 genomes]
rs11953877	0.89[ASN][1000 genomes]
rs11953894	0.89[ASN][1000 genomes]
rs11954911	0.89[ASN][1000 genomes]
rs11955115	0.89[ASN][1000 genomes]
rs11959995	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12516014	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12516667	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12517476	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12520566	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12523434	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1455424	0.89[ASN][1000 genomes]
rs1455425	0.89[ASN][1000 genomes]
rs1455426	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1455432	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17165943	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35382921	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4702968	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4702970	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4703066	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4703070	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4703347	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4703354	1.00[ASN][1000 genomes]
rs59277777	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59423561	0.89[ASN][1000 genomes]
rs60249733	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62369875	0.89[ASN][1000 genomes]
rs6594645	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6594647	1.00[CEU][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6596727	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs6596748	0.89[ASN][1000 genomes]
rs6862206	0.89[ASN][1000 genomes]
rs6863762	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs6870895	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6872708	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6872831	0.89[ASN][1000 genomes]
rs6877032	0.89[ASN][1000 genomes]
rs6885408	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6890493	1.00[ASN][1000 genomes]
rs73143833	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73159220	0.89[ASN][1000 genomes]
rs73159222	0.89[ASN][1000 genomes]
rs73159223	0.89[ASN][1000 genomes]
rs73159226	0.89[ASN][1000 genomes]
rs73159258	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7702659	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7702702	1.00[ASN][1000 genomes]
rs7714842	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7715004	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7734263	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7734271	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882407	chr5:97553255-97783046	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv882408	chr5:97616089-97836794	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv830419	chr5:97653713-97829079	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv1018555	chr5:97719032-97873906	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv969967	chr5:97744486-97756918	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:97744200-97755200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:97748400-97754200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:97748600-97754400	Enhancers	NHDF-Ad	bronchial
4	chr5:97752000-97760000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr5:97752000-97760200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:97753200-97754800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:97753200-97755800	Weak transcription	Psoas Muscle	Psoas

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