Variant report

Variant	rs2594282
Chromosome Location	chr4:87776314-87776315
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:87769723..87774057-chr4:87775131..87777452,3	MCF-7	breast:
2	chr4:87776224..87780188-chr4:87811150..87813505,4	MCF-7	breast:
3	chr4:87755836..87758517-chr4:87776083..87778116,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145283	Chromatin interaction
ENSG00000163633	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10017360	0.87[ASN][1000 genomes]
rs10020861	0.95[CEU][hapmap];1.00[EUR][1000 genomes]
rs11731586	0.87[ASN][1000 genomes]
rs11935015	0.87[ASN][1000 genomes]
rs11939730	0.87[ASN][1000 genomes]
rs12503661	0.87[ASN][1000 genomes]
rs13106349	0.99[EUR][1000 genomes]
rs13137142	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13141097	0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1374934	0.85[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1550931	0.85[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2594281	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2594284	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2705622	0.87[ASN][1000 genomes]
rs2705623	0.91[ASN][1000 genomes]
rs2705624	0.91[ASN][1000 genomes]
rs2705626	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2705627	0.85[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2922234	0.89[ASN][1000 genomes]
rs4508849	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs4693788	0.85[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4693789	0.87[ASN][1000 genomes]
rs56414102	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57477100	0.85[ASN][1000 genomes]
rs6531936	0.85[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6531937	0.85[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs73838351	0.85[ASN][1000 genomes]
rs7656537	0.82[ASN][1000 genomes]
rs7657443	1.00[JPT][hapmap]
rs7663218	0.85[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8180256	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9654158	0.91[CEU][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594787	chr4:87221827-87888667	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1013308	chr4:87769694-87870168	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87769600-87776800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr4:87769800-87778600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:87770200-87776800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr4:87770400-87778600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:87771600-87776800	Weak transcription	Right Atrium	heart
6	chr4:87771600-87785600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr4:87771800-87776400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:87771800-87776400	Weak transcription	NHEK	skin
9	chr4:87771800-87776800	Weak transcription	Left Ventricle	heart
10	chr4:87771800-87776800	Weak transcription	Hela-S3	cervix
11	chr4:87774800-87776600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr4:87775800-87779200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr4:87776200-87777000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr4:87776200-87778800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr4:87776200-87779000	Enhancers	HMEC	breast
16	chr4:87776200-87779200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:87776200-87779600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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