Variant report

Variant	rs4577225
Chromosome Location	chr2:189494120-189494121
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:189493271..189495642-chr2:195994230..195996129,2	K562	blood:
2	chr2:189469607..189471474-chr2:189493265..189494962,2	MCF-7	breast:
3	chr2:189464505..189467171-chr2:189493961..189496240,2	MCF-7	breast:

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10153688	0.85[EUR][1000 genomes]
rs10153871	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10172178	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10173411	0.85[EUR][1000 genomes]
rs10185750	0.85[EUR][1000 genomes]
rs10199260	1.00[JPT][hapmap]
rs10203054	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10804021	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs10931363	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs11679949	1.00[CEU][hapmap]
rs11683089	0.87[ASN][1000 genomes]
rs11683183	0.87[ASN][1000 genomes]
rs11683909	1.00[CEU][hapmap]
rs11683969	1.00[CEU][hapmap]
rs11685238	0.85[EUR][1000 genomes]
rs11685643	1.00[CEU][hapmap]
rs11693105	1.00[CEU][hapmap]
rs11695177	1.00[CEU][hapmap]
rs11695316	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs11902664	0.85[EUR][1000 genomes]
rs12463744	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12475894	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs12476413	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs12997039	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs13025659	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs13386581	0.96[EUR][1000 genomes]
rs13386959	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs13392850	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs13393057	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs13396968	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13397653	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs13412448	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes]
rs13413644	1.00[EUR][1000 genomes]
rs13413752	0.89[EUR][1000 genomes]
rs13414327	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs13418031	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs13424809	1.00[EUR][1000 genomes]
rs1354902	1.00[JPT][hapmap]
rs1354904	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1354908	0.87[ASN][1000 genomes]
rs1354910	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1507551	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs1507560	0.87[ASN][1000 genomes]
rs1507561	0.87[ASN][1000 genomes]
rs1567184	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1807235	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1911602	0.87[ASN][1000 genomes]
rs1911603	0.82[ASN][1000 genomes]
rs2350903	0.87[ASN][1000 genomes]
rs4146570	0.87[ASN][1000 genomes]
rs4453658	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs4591284	0.87[ASN][1000 genomes]
rs4667229	1.00[JPT][hapmap]
rs4667231	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs55663622	0.85[EUR][1000 genomes]
rs61045757	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6414119	0.85[EUR][1000 genomes]
rs6434285	0.85[EUR][1000 genomes]
rs6434286	0.89[EUR][1000 genomes]
rs66641143	0.96[EUR][1000 genomes]
rs6707212	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs6708451	0.87[ASN][1000 genomes]
rs6709557	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs6722940	0.81[EUR][1000 genomes]
rs6727633	0.85[EUR][1000 genomes]
rs67425558	0.92[EUR][1000 genomes]
rs6744275	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs6756504	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs698553	0.85[EUR][1000 genomes]
rs7419798	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs7420808	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs7421510	1.00[CEU][hapmap]
rs7422739	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7423329	1.00[CEU][hapmap]
rs7423554	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs7568147	0.96[EUR][1000 genomes]
rs7579593	1.00[CEU][hapmap]
rs7582643	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs7587596	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs7602180	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs781261	1.00[CHB][hapmap]
rs8273	1.00[CHB][hapmap]
rs9752583	0.80[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	nsv834489	chr2:189329027-189494224	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv1003974	chr2:189331760-189827814	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189484800-189494600	Weak transcription	Aorta	Aorta
2	chr2:189489400-189494200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr2:189489400-189494400	Weak transcription	Fetal Lung	lung
4	chr2:189492000-189496600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:189492400-189495400	Enhancers	NHDF-Ad	bronchial
6	chr2:189493200-189495400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:189493200-189495800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:189493200-189496000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:189493200-189496000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:189493400-189494800	Enhancers	Placenta	Placenta
11	chr2:189493400-189495400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:189493400-189495400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:189493400-189495400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:189493400-189496000	Enhancers	Hela-S3	cervix
15	chr2:189493400-189496400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:189493600-189494600	Enhancers	HMEC	breast
17	chr2:189493600-189495400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:189493800-189494200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr2:189493800-189495400	Enhancers	A549	lung
20	chr2:189493800-189495600	Enhancers	Osteobl	bone
21	chr2:189493800-189496400	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr2:189494000-189494600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:189494000-189494800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:189494000-189495200	Enhancers	NH-A	brain
25	chr2:189494000-189495600	Enhancers	Adipose Nuclei	Adipose
26	chr2:189494000-189496200	Enhancers	NHLF	lung
27	chr2:189494000-189496400	Enhancers	Fetal Stomach	stomach

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