Variant report

Variant	rs1983318
Chromosome Location	chr2:190053697-190053698
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:190045819..190048610-chr2:190053101..190054817,2	MCF-7	breast:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10165257	0.91[ASN][1000 genomes]
rs1016622	0.81[YRI][hapmap];0.82[AFR][1000 genomes]
rs10166385	0.92[ASN][1000 genomes]
rs10167242	0.84[ASN][1000 genomes]
rs10172607	0.95[ASN][1000 genomes]
rs10173224	0.93[ASN][1000 genomes]
rs10184895	0.95[ASN][1000 genomes]
rs10755002	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10931401	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs10931403	0.91[ASN][1000 genomes]
rs10931405	0.89[ASN][1000 genomes]
rs10931411	0.83[ASN][1000 genomes]
rs11901914	0.93[ASN][1000 genomes]
rs12105389	0.93[YRI][hapmap];0.80[AFR][1000 genomes]
rs12474942	0.97[ASN][1000 genomes]
rs12621657	0.84[ASN][1000 genomes]
rs12999125	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13005834	0.81[AFR][1000 genomes]
rs13006065	0.93[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs13015183	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13028226	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13031211	0.80[JPT][hapmap];0.96[YRI][hapmap]
rs13031609	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13408928	0.93[ASN][1000 genomes]
rs13411992	0.92[ASN][1000 genomes]
rs13413518	0.93[ASN][1000 genomes]
rs1356161	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1356165	0.96[YRI][hapmap];0.84[AFR][1000 genomes]
rs1356166	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1356167	0.90[YRI][hapmap]
rs1356168	0.89[YRI][hapmap]
rs1399991	0.93[YRI][hapmap]
rs1464135	1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs1474000	0.86[ASN][1000 genomes]
rs1515866	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1533618	0.95[ASN][1000 genomes]
rs1546617	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1913892	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1973666	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2351631	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2351632	0.94[ASN][1000 genomes]
rs2351633	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2351635	0.85[ASN][1000 genomes]
rs4667266	0.82[AFR][1000 genomes]
rs4667268	0.94[CHB][hapmap];0.93[JPT][hapmap];0.84[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs4667270	0.93[ASN][1000 genomes]
rs4667271	0.95[ASN][1000 genomes]
rs4667275	0.85[ASN][1000 genomes]
rs6434334	0.88[ASN][1000 genomes]
rs6434337	0.84[ASN][1000 genomes]
rs6704568	0.87[ASN][1000 genomes]
rs6728877	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6732534	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6761868	0.87[ASN][1000 genomes]
rs7419888	0.97[YRI][hapmap]
rs7574281	0.83[ASN][1000 genomes]
rs7599222	0.92[ASN][1000 genomes]
rs7603704	0.88[ASN][1000 genomes]
rs939158	0.85[ASN][1000 genomes]
rs939160	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190045800-190056600	Weak transcription	HSMM	muscle
2	chr2:190046600-190057600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:190052800-190053800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:190053000-190053800	Flanking Active TSS	A549	lung
5	chr2:190053200-190056200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:190053200-190056600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:190053400-190056600	Weak transcription	Osteobl	bone
8	chr2:190053600-190056200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:190053600-190056400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:190053600-190056400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr2:190053600-190056600	Weak transcription	NHDF-Ad	bronchial
12	chr2:190053600-190056600	Weak transcription	NHLF	lung

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