Variant report

Variant	rs10187465
Chromosome Location	chr2:53107978-53107979
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:53103066..53106486-chr2:53106611..53109718,3	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10173886	0.90[ASN][1000 genomes]
rs10191273	0.82[ASN][1000 genomes]
rs10203699	0.88[ASN][1000 genomes]
rs10208858	0.90[ASN][1000 genomes]
rs10865272	0.86[ASN][1000 genomes]
rs12475131	0.80[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs12475542	0.89[ASN][1000 genomes]
rs12617374	0.90[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12617738	0.86[ASN][1000 genomes]
rs12713227	0.95[CHB][hapmap]
rs12713229	0.95[CHB][hapmap]
rs12713231	0.90[ASN][1000 genomes]
rs13030509	0.92[ASN][1000 genomes]
rs1376563	0.92[ASN][1000 genomes]
rs1376567	0.84[ASN][1000 genomes]
rs1376570	1.00[CHB][hapmap];0.87[CHD][hapmap];0.80[JPT][hapmap]
rs1397097	0.85[JPT][hapmap]
rs1597654	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17043799	0.85[JPT][hapmap]
rs17504530	0.84[ASN][1000 genomes]
rs1828337	0.83[ASN][1000 genomes]
rs1839770	0.89[ASN][1000 genomes]
rs1864534	0.90[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2048309	0.96[EUR][1000 genomes]
rs6715847	0.86[ASN][1000 genomes]
rs6730735	0.86[EUR][1000 genomes]
rs6746666	0.95[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs6754205	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998380	chr2:52891706-53222155	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	esv2763631	chr2:52910862-53169629	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1006244	chr2:52958322-53169617	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1005813	chr2:52959769-53114865	Weak transcription Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1010978	chr2:52959769-53249951	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1014068	chr2:52960353-53169617	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv520722	chr2:53039770-53421015	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1010237	chr2:53072736-53116413	Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
9	nsv581978	chr2:53091691-53227749	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
10	nsv874136	chr2:53101066-53218774	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53094400-53108600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:53102600-53108200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:53105600-53108200	Weak transcription	A549	lung
4	chr2:53105600-53121800	Weak transcription	Pancreas	Pancrea
5	chr2:53107200-53109000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:53107600-53108200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:53107600-53108200	Enhancers	Fetal Heart	heart
8	chr2:53107600-53109000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:53107800-53109000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:53107800-53109200	Enhancers	Cortex derived primary cultured neurospheres	brain

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