Variant report

Variant	rs13413518
Chromosome Location	chr2:190066842-190066843
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:190058157..190060811-chr2:190064432..190067391,2	MCF-7	breast:
2	chr2:190063477..190065170-chr2:190065320..190067995,2	MCF-7	breast:
3	chr2:190064765..190067723-chr2:190072988..190074631,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10165257	0.94[ASN][1000 genomes]
rs10166385	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10167242	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10172607	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10173224	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10184895	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10188246	0.85[EUR][1000 genomes]
rs10755002	0.97[ASN][1000 genomes]
rs10804029	0.87[EUR][1000 genomes]
rs10931401	0.85[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs10931403	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10931405	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10931411	0.84[ASN][1000 genomes]
rs11676905	0.89[EUR][1000 genomes]
rs11901914	0.96[ASN][1000 genomes]
rs12474942	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12621657	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12994482	0.89[EUR][1000 genomes]
rs12999125	0.94[ASN][1000 genomes]
rs13006065	0.95[ASN][1000 genomes]
rs13015183	0.96[ASN][1000 genomes]
rs13028226	0.92[ASN][1000 genomes]
rs13031609	0.84[ASN][1000 genomes]
rs13408928	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13411992	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1356161	0.93[ASN][1000 genomes]
rs1356166	0.93[ASN][1000 genomes]
rs1464135	0.94[ASN][1000 genomes]
rs1474000	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1515866	0.97[ASN][1000 genomes]
rs1533618	0.96[ASN][1000 genomes]
rs1546617	0.95[ASN][1000 genomes]
rs1913892	0.93[ASN][1000 genomes]
rs1973666	0.90[ASN][1000 genomes]
rs1983318	0.93[ASN][1000 genomes]
rs2351631	0.97[ASN][1000 genomes]
rs2351632	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2351633	0.94[ASN][1000 genomes]
rs2351635	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2351932	0.85[EUR][1000 genomes]
rs2683012	0.87[EUR][1000 genomes]
rs4580411	0.82[EUR][1000 genomes]
rs4667268	0.92[ASN][1000 genomes]
rs4667270	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4667271	0.96[ASN][1000 genomes]
rs4667275	0.86[ASN][1000 genomes]
rs4667280	0.82[EUR][1000 genomes]
rs6434334	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6434337	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6434340	0.82[EUR][1000 genomes]
rs6704568	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6728877	0.92[ASN][1000 genomes]
rs6732534	0.94[ASN][1000 genomes]
rs6761868	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7422875	0.89[EUR][1000 genomes]
rs7425383	0.89[EUR][1000 genomes]
rs7574281	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7599222	0.99[ASN][1000 genomes]
rs7603704	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs939158	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs939160	0.95[ASN][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	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

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190056800-190069400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:190057200-190068200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr2:190064800-190073200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr2:190065000-190068200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:190065000-190073000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:190066600-190067000	Enhancers	A549	lung
7	chr2:190066800-190067600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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