Variant report

Variant	rs1595322
Chromosome Location	chr2:212004504-212004505
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10084326	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10166833	0.85[AMR][1000 genomes]
rs10190808	0.86[AMR][1000 genomes]
rs10191921	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10198500	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10201572	0.85[AMR][1000 genomes]
rs10203100	0.86[AMR][1000 genomes]
rs10210622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11885348	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11901419	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12463546	0.86[ASN][1000 genomes]
rs12475356	0.86[ASN][1000 genomes]
rs13407023	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1595063	1.00[CHB][hapmap]
rs1821657	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs1837137	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1866195	0.83[ASN][1000 genomes]
rs4356605	0.83[ASN][1000 genomes]
rs4672607	0.84[ASN][1000 genomes]
rs4673581	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4673591	0.86[ASN][1000 genomes]
rs4673592	0.86[ASN][1000 genomes]
rs4673593	0.83[ASN][1000 genomes]
rs4673594	0.83[ASN][1000 genomes]
rs57962173	0.83[ASN][1000 genomes]
rs58740402	0.86[ASN][1000 genomes]
rs59871753	0.83[ASN][1000 genomes]
rs6435604	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72941629	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72941633	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73075664	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012193	chr2:211684524-212072213	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv834521	chr2:211918881-212057872	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv875773	chr2:211973600-212041403	Enhancers Weak transcription Flanking Active TSS 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	chr2:211998800-212004600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:211998800-212009400	Weak transcription	HSMM	muscle
3	chr2:212004200-212004600	Enhancers	Muscle Satellite Cultured Cells	--

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