Variant report

Variant	rs12621657
Chromosome Location	chr2:190145302-190145303
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:190143476..190146248-chr2:190148193..190151075,3	MCF-7	breast:

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10165257	0.83[ASN][1000 genomes]
rs10166385	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10167242	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10172607	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10173224	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10184895	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10188246	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10210634	0.81[EUR][1000 genomes]
rs10755002	0.85[ASN][1000 genomes]
rs10804029	0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10931401	0.85[ASN][1000 genomes]
rs10931403	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10931405	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10931411	0.96[ASN][1000 genomes]
rs11676905	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11901914	0.85[ASN][1000 genomes]
rs12474942	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12994482	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12999125	0.85[ASN][1000 genomes]
rs13006065	0.86[ASN][1000 genomes]
rs13015183	0.84[ASN][1000 genomes]
rs13028226	0.84[ASN][1000 genomes]
rs13408928	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13411992	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13413518	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1356161	0.86[ASN][1000 genomes]
rs1356166	0.84[ASN][1000 genomes]
rs1464135	0.83[ASN][1000 genomes]
rs1474000	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1515866	0.85[ASN][1000 genomes]
rs1533618	0.89[ASN][1000 genomes]
rs1546617	0.84[ASN][1000 genomes]
rs1913892	0.86[ASN][1000 genomes]
rs1983318	0.84[ASN][1000 genomes]
rs2351631	0.85[ASN][1000 genomes]
rs2351632	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2351633	0.84[ASN][1000 genomes]
rs2351635	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2351932	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2683012	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4580411	0.92[EUR][1000 genomes]
rs4667268	0.87[ASN][1000 genomes]
rs4667270	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4667271	0.89[ASN][1000 genomes]
rs4667275	0.99[ASN][1000 genomes]
rs4667280	0.92[EUR][1000 genomes]
rs6434334	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6434337	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6434340	0.92[EUR][1000 genomes]
rs6704568	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6728877	0.84[ASN][1000 genomes]
rs6732534	0.87[ASN][1000 genomes]
rs6752545	0.81[EUR][1000 genomes]
rs6761868	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7422875	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7425383	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7566093	0.81[EUR][1000 genomes]
rs7574281	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7599222	0.88[ASN][1000 genomes]
rs7603704	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs939158	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs939160	0.85[ASN][1000 genomes]
rs9677436	0.81[EUR][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	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875613	chr2:189999011-190324685	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv875614	chr2:190110841-190254758	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190139200-190145400	Weak transcription	Fetal Lung	lung
2	chr2:190141000-190149600	Weak transcription	HSMM	muscle
3	chr2:190141200-190150200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:190141400-190145600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:190142200-190149400	Weak transcription	NHDF-Ad	bronchial
6	chr2:190142800-190149400	Weak transcription	Osteobl	bone
7	chr2:190142800-190149600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:190143000-190145800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:190143400-190149400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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