Variant report

Variant	rs62137402
Chromosome Location	chr2:49071742-49071743
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:49067039..49069722-chr2:49070584..49073190,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs12987006	0.87[AFR][1000 genomes]
rs12993218	0.83[AFR][1000 genomes]
rs13000963	0.83[AFR][1000 genomes]
rs13000979	0.83[AFR][1000 genomes]
rs13026051	0.90[AFR][1000 genomes]
rs34375321	0.82[AFR][1000 genomes]
rs34840154	0.84[AFR][1000 genomes]
rs34841582	0.87[AFR][1000 genomes]
rs35031960	0.82[AFR][1000 genomes]
rs35891136	0.82[AFR][1000 genomes]
rs35944620	0.84[AFR][1000 genomes]
rs35989613	0.82[AFR][1000 genomes]
rs36098594	0.83[AFR][1000 genomes]
rs3935550	0.81[AFR][1000 genomes]
rs4295062	0.86[AFR][1000 genomes]
rs4477968	0.85[AFR][1000 genomes]
rs4481040	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4539840	0.84[AFR][1000 genomes]
rs56963902	1.00[EUR][1000 genomes]
rs62137362	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs62137363	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs62137364	0.84[AFR][1000 genomes]
rs62137365	0.89[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs62137368	0.90[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs62137386	0.82[AFR][1000 genomes]
rs62137390	0.80[AFR][1000 genomes]
rs62137393	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62137394	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62137396	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62137397	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62137398	0.84[AFR][1000 genomes]
rs62137399	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62137400	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62137403	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62137441	0.81[AFR][1000 genomes]
rs62137444	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62137445	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62137449	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62137450	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62137451	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62137452	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62137454	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62161788	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62161789	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72884590	0.90[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72886209	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72889120	0.85[AMR][1000 genomes];1.00[EUR][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	nsv1002793	chr2:48771220-49466550	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1004965	chr2:48796170-49443587	Bivalent Enhancer Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv535684	chr2:48796170-49443587	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv498119	chr2:48808834-49422647	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv998864	chr2:49015878-49230000	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48994600-49080200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:49070400-49071800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:49071200-49072600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:49071200-49073200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:49071200-49073400	Enhancers	HMEC	breast
6	chr2:49071200-49073600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:49071400-49071800	Enhancers	HSMMtube	muscle
8	chr2:49071400-49072600	Enhancers	NH-A	brain
9	chr2:49071400-49072800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:49071400-49072800	Enhancers	HSMM	muscle
11	chr2:49071400-49073600	Enhancers	NHEK	skin
12	chr2:49071600-49073400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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