Variant report

Variant	rs9677436
Chromosome Location	chr2:190268271-190268272
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10166420	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs10175108	0.82[ASN][1000 genomes]
rs10188246	0.85[ASN][1000 genomes]
rs10198663	0.82[ASN][1000 genomes]
rs10210634	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10804029	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10931417	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11676905	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11677167	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11678414	0.83[ASN][1000 genomes]
rs12613903	0.82[ASN][1000 genomes]
rs12621657	0.81[EUR][1000 genomes]
rs12622720	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12693539	0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs12693540	0.82[ASN][1000 genomes]
rs12994482	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13009912	0.85[ASN][1000 genomes]
rs13015207	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs13018252	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13035381	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1356976	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1474000	0.81[EUR][1000 genomes]
rs1520854	0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs1520856	0.93[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs1520866	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1595749	0.82[ASN][1000 genomes]
rs16831454	0.81[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs1851104	0.87[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs1866605	0.82[ASN][1000 genomes]
rs1898971	0.82[ASN][1000 genomes]
rs1992295	0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2304702	0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2351635	0.81[EUR][1000 genomes]
rs2351932	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2351934	0.82[ASN][1000 genomes]
rs2683012	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2882805	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4309611	0.81[ASN][1000 genomes]
rs4580411	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4666775	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4667280	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4667284	0.81[ASN][1000 genomes]
rs6434337	0.81[EUR][1000 genomes]
rs6434340	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6434342	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6434343	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs6704568	0.81[EUR][1000 genomes]
rs6738193	0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs6747222	0.85[ASN][1000 genomes]
rs6752545	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6761868	0.81[EUR][1000 genomes]
rs734859	0.85[ASN][1000 genomes]
rs7420765	0.86[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs7422875	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7425383	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs745742	0.82[ASN][1000 genomes]
rs7556928	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7566093	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7574403	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs8179541	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8179732	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs893407	0.82[ASN][1000 genomes]
rs939158	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	nsv875615	chr2:190215527-190444392	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9677436	AC013439.4	cis	Muscle Skeletal	GTEx

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190258800-190272000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:190258800-190272600	Weak transcription	Aorta	Aorta
3	chr2:190267400-190268400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:190267400-190268400	Enhancers	Muscle Satellite Cultured Cells	--
5	chr2:190267400-190268800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:190268000-190272400	Weak transcription	NHEK	skin
7	chr2:190268200-190268400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:190268200-190268400	Enhancers	Osteobl	bone
9	chr2:190268200-190268800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:190268200-190271400	Weak transcription	HMEC	breast
11	chr2:190268200-190272400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:190268200-190276800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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