Variant report

Variant	rs12490120
Chromosome Location	chr3:157014952-157014953
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	chr3:157008081..157011337-chr3:157013720..157016384,3	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10513508	0.82[CHB][hapmap]
rs10513510	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs10513512	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs10755111	0.92[CEU][hapmap];0.95[CHB][hapmap];0.88[JPT][hapmap];0.91[YRI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10804777	0.82[CEU][hapmap];0.86[AMR][1000 genomes]
rs10936077	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10936078	0.83[CHB][hapmap]
rs10936080	0.82[CHB][hapmap]
rs10936081	0.83[CHB][hapmap]
rs10936083	0.81[CHB][hapmap]
rs12486155	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12494423	0.81[EUR][1000 genomes]
rs12632562	0.95[CHB][hapmap]
rs12633099	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12633429	0.95[CHB][hapmap]
rs12634905	0.86[AMR][1000 genomes]
rs12637932	0.81[CEU][hapmap];0.86[AMR][1000 genomes]
rs1403105	0.92[CEU][hapmap];0.95[CHB][hapmap];0.88[JPT][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1403106	0.86[CHB][hapmap]
rs1403108	0.91[CHB][hapmap]
rs1403109	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1500924	0.83[CHB][hapmap]
rs1522392	0.82[CHB][hapmap]
rs1522393	0.82[EUR][1000 genomes]
rs1546260	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1566521	0.82[EUR][1000 genomes]
rs1568611	0.91[CHB][hapmap]
rs2047647	0.81[CEU][hapmap];0.86[AMR][1000 genomes]
rs2047648	0.83[CHB][hapmap]
rs2321743	0.92[CEU][hapmap];0.95[CHB][hapmap];0.88[JPT][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2874616	0.86[CHB][hapmap]
rs4679790	0.93[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.92[YRI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4679791	0.93[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4680352	0.87[CHB][hapmap]
rs4680353	0.89[CEU][hapmap];0.95[CHB][hapmap];0.88[JPT][hapmap];0.91[YRI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4680354	0.81[CHB][hapmap]
rs55734537	0.87[AMR][1000 genomes]
rs6799567	0.82[CHB][hapmap]
rs73156724	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7631257	0.83[CHB][hapmap]
rs7649737	0.91[CHB][hapmap]
rs7652298	0.87[CHB][hapmap]
rs872652	0.82[CEU][hapmap];0.80[AMR][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	nsv829766	chr3:156811536-157020551	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv877687	chr3:156924793-157044184	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:157000600-157015400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr3:157004800-157028200	Weak transcription	HUVEC	blood vessel
3	chr3:157005600-157015000	Enhancers	Muscle Satellite Cultured Cells	--
4	chr3:157010800-157015000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr3:157011200-157017800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr3:157013000-157017400	Weak transcription	HSMMtube	muscle
7	chr3:157013000-157018600	Weak transcription	K562	blood
8	chr3:157013000-157032600	Weak transcription	NH-A	brain
9	chr3:157013200-157015600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:157013200-157017400	Weak transcription	HSMM	muscle
11	chr3:157013200-157017400	Weak transcription	NHLF	lung
12	chr3:157013200-157019600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr3:157014400-157016000	Weak transcription	NHDF-Ad	bronchial
14	chr3:157014400-157018800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr3:157014400-157019200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr3:157014800-157015200	Weak transcription	Osteobl	bone

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