Variant report

Variant	rs62157627
Chromosome Location	chr2:142797529-142797530
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1001629	0.87[EUR][1000 genomes]
rs10803487	0.96[ASN][1000 genomes]
rs10928133	0.96[ASN][1000 genomes]
rs10928134	0.92[ASN][1000 genomes]
rs11677754	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11688838	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11692364	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12105566	0.92[ASN][1000 genomes]
rs12105584	0.92[ASN][1000 genomes]
rs12618881	0.92[ASN][1000 genomes]
rs12619411	0.84[ASN][1000 genomes]
rs12621782	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12998297	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13000270	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13036224	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1349222	0.87[EUR][1000 genomes]
rs1375603	0.91[ASN][1000 genomes]
rs1375616	0.99[ASN][1000 genomes]
rs1449475	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1449481	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1449485	0.87[EUR][1000 genomes]
rs1449489	0.99[ASN][1000 genomes]
rs1449490	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1449494	0.99[ASN][1000 genomes]
rs1449495	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1449496	0.99[ASN][1000 genomes]
rs1449498	0.96[ASN][1000 genomes]
rs1449499	0.96[ASN][1000 genomes]
rs1449501	0.96[ASN][1000 genomes]
rs1449503	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1449504	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17824487	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1868543	0.98[ASN][1000 genomes]
rs1868544	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1900933	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1900934	0.92[ASN][1000 genomes]
rs2029142	0.99[ASN][1000 genomes]
rs2060592	0.99[ASN][1000 genomes]
rs2197910	0.91[ASN][1000 genomes]
rs2218734	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34392492	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4550611	0.87[ASN][1000 genomes]
rs4662370	0.92[ASN][1000 genomes]
rs4662373	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62155598	0.87[EUR][1000 genomes]
rs62157626	1.00[ASN][1000 genomes]
rs6754907	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs736602	0.85[ASN][1000 genomes]
rs7558803	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7598886	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7605112	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs993935	0.92[ASN][1000 genomes]
rs9941495	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9941695	0.92[ASN][1000 genomes]
rs997123	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[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	nsv530398	chr2:142474842-142843839	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv997274	chr2:142760393-143599193	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv526107	chr2:142768518-142884248	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 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	chr2:142794400-142802400	Enhancers	NH-A	brain
2	chr2:142795000-142798400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:142795000-142798800	Weak transcription	Brain Angular Gyrus	brain
4	chr2:142795400-142798200	Weak transcription	Brain Hippocampus Middle	brain
5	chr2:142795600-142798200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:142795600-142798800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr2:142795800-142802600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:142796200-142798400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:142796200-142798400	Weak transcription	Brain Anterior Caudate	brain
10	chr2:142796200-142801800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr2:142796200-142809800	Weak transcription	Brain Substantia Nigra	brain
12	chr2:142796600-142798400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:142797400-142797800	Weak transcription	HMEC	breast

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