Variant report

Variant	rs12631456
Chromosome Location	chr3:157189235-157189236
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1009873	0.82[CHD][hapmap]
rs1378794	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17470517	0.94[CEU][hapmap];0.84[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1824056	0.85[ASW][hapmap];0.94[CEU][hapmap];0.95[GIH][hapmap];0.97[TSI][hapmap];0.84[YRI][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1902347	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28690487	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4679798	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[TSI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4680370	0.94[CEU][hapmap];0.84[YRI][hapmap]
rs57095742	0.91[EUR][1000 genomes]
rs6794511	0.89[CHB][hapmap]
rs7639175	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9815250	0.94[CEU][hapmap];0.84[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9841781	0.85[ASW][hapmap];0.94[CEU][hapmap];0.95[GIH][hapmap];0.97[TSI][hapmap];0.84[YRI][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9851066	0.94[CEU][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9859018	0.94[CEU][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9873474	0.94[CEU][hapmap];0.91[GIH][hapmap];0.97[TSI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9877620	0.94[CEU][hapmap];0.84[YRI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[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	esv2757900	chr3:157090166-157254684	Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv2759193	chr3:157090166-157254684	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:157160400-157195000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr3:157182800-157190400	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr3:157184400-157190400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr3:157185600-157189600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr3:157185600-157211400	Weak transcription	HSMM	muscle
6	chr3:157186000-157193400	Weak transcription	NHLF	lung
7	chr3:157187000-157189400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr3:157187200-157189800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr3:157187400-157193600	Weak transcription	NH-A	brain
10	chr3:157187600-157210600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr3:157187800-157193400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:157188000-157203000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr3:157188200-157193600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:157188200-157193600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr3:157188200-157193800	Weak transcription	Osteobl	bone
16	chr3:157189000-157190200	Weak transcription	Fetal Stomach	stomach
17	chr3:157189200-157193800	Weak transcription	HUVEC	blood vessel

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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