Variant report

Variant	rs4953864
Chromosome Location	chr2:133691000-133691001
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1005941	0.96[AMR][1000 genomes]
rs1020430	0.96[CHD][hapmap];0.89[JPT][hapmap];0.87[YRI][hapmap];0.82[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs11893302	0.84[JPT][hapmap]
rs12469430	0.83[CHD][hapmap];0.84[JPT][hapmap];0.95[MEX][hapmap];0.85[AMR][1000 genomes]
rs1584314	0.84[JPT][hapmap];0.85[AMR][1000 genomes]
rs16843794	0.83[JPT][hapmap];0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs16843849	1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16843961	0.96[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1962923	0.85[AMR][1000 genomes]
rs281583	0.94[JPT][hapmap]
rs36003100	0.94[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4953862	0.84[JPT][hapmap]
rs4954007	0.83[JPT][hapmap]
rs4954008	0.83[JPT][hapmap];0.84[AMR][1000 genomes]
rs4954009	0.83[CHB][hapmap];0.89[JPT][hapmap];0.87[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4954010	0.83[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.94[AMR][1000 genomes]
rs60002781	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6726055	0.89[JPT][hapmap];0.87[YRI][hapmap]
rs6748489	0.94[JPT][hapmap]
rs72994818	0.84[AMR][1000 genomes]
rs7561777	0.86[CHD][hapmap]
rs7578051	0.94[EUR][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	nsv875137	chr2:133167263-133714142	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv583158	chr2:133316092-133862100	Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv875138	chr2:133410921-133761794	Enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv1002955	chr2:133440142-133743211	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1004604	chr2:133658116-133761794	Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv916805	chr2:133664765-133924973	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133682000-133693200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:133690000-133693200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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