Variant report

Variant	rs10167242
Chromosome Location	chr2:190115340-190115341
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10165257	0.82[ASN][1000 genomes]
rs10166385	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10172607	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10173224	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10184895	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10188246	0.90[EUR][1000 genomes]
rs10207812	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs10755002	0.85[ASN][1000 genomes]
rs10804029	0.92[EUR][1000 genomes]
rs10931401	1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[YRI][hapmap];0.83[ASN][1000 genomes]
rs10931403	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10931405	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10931411	0.89[ASN][1000 genomes]
rs11676905	0.95[EUR][1000 genomes]
rs11901914	0.83[ASN][1000 genomes]
rs12474942	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12621657	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12994482	0.95[EUR][1000 genomes]
rs12999125	0.85[ASN][1000 genomes]
rs13006065	0.86[ASN][1000 genomes]
rs13015183	0.84[ASN][1000 genomes]
rs13018252	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs13028226	0.84[ASN][1000 genomes]
rs13408928	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13411992	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13413518	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1356161	0.86[ASN][1000 genomes]
rs1356166	0.84[ASN][1000 genomes]
rs1464135	1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs1474000	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1515866	0.85[ASN][1000 genomes]
rs1520854	1.00[JPT][hapmap]
rs1520858	1.00[JPT][hapmap]
rs1533618	0.89[ASN][1000 genomes]
rs1546617	0.84[ASN][1000 genomes]
rs1851104	1.00[JPT][hapmap]
rs1913892	0.86[ASN][1000 genomes]
rs1983318	0.84[ASN][1000 genomes]
rs1992295	1.00[JPT][hapmap]
rs2351631	0.85[ASN][1000 genomes]
rs2351632	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2351633	0.84[ASN][1000 genomes]
rs2351635	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2351932	0.90[EUR][1000 genomes]
rs2683012	0.92[EUR][1000 genomes]
rs4580411	0.87[EUR][1000 genomes]
rs4667268	0.94[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs4667270	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4667271	0.89[ASN][1000 genomes]
rs4667275	0.92[ASN][1000 genomes]
rs4667280	0.87[EUR][1000 genomes]
rs6434334	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6434337	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6434340	0.87[EUR][1000 genomes]
rs6704568	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6728877	0.84[ASN][1000 genomes]
rs6732534	0.87[ASN][1000 genomes]
rs6761868	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7422875	0.95[EUR][1000 genomes]
rs7425383	0.95[EUR][1000 genomes]
rs7574281	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7599222	0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs7603704	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9288163	0.89[YRI][hapmap]
rs939158	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs939160	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv1014747	chr2:190097979-190132854	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv875614	chr2:190110841-190254758	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr2:190112800-190115800	Enhancers	Fetal Lung	lung
2	chr2:190113600-190117800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:190113600-190118600	Weak transcription	Colon Smooth Muscle	Colon
4	chr2:190114400-190117600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:190114400-190117800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:190114600-190117600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr2:190114600-190117600	Weak transcription	NHDF-Ad	bronchial
8	chr2:190114600-190118200	Weak transcription	NH-A	brain
9	chr2:190115000-190115400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr2:190115000-190117600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:190115000-190117600	Weak transcription	Osteobl	bone
12	chr2:190115000-190117800	Weak transcription	A549	lung
13	chr2:190115000-190118600	Weak transcription	Fetal Stomach	stomach
14	chr2:190115200-190117600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:190115200-190118000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:190115200-190119000	Weak transcription	Aorta	Aorta
17	chr2:190115200-190119000	Weak transcription	Ovary	ovary

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