Variant report

Variant	rs16831356
Chromosome Location	chr2:190257103-190257104
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10164448	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10198505	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10755003	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10931409	0.86[EUR][1000 genomes]
rs1464262	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1473999	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1515867	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1606931	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16831217	0.97[EUR][1000 genomes]
rs16841601	0.97[EUR][1000 genomes]
rs17270980	0.97[EUR][1000 genomes]
rs2030293	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2102874	0.97[EUR][1000 genomes]
rs2176649	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2351634	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2683011	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4031918	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4494782	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4666773	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56920210	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58288282	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58796942	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6434335	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73978612	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73978617	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73978620	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73978626	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73978632	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73978633	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73982009	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73982031	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7591652	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7596033	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs870921	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs870922	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs939157	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs939159	1.00[AMR][1000 genomes];0.97[EUR][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	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
4	esv3451292	chr2:190225623-190266276	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190245000-190257200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:190245600-190257200	Weak transcription	Osteobl	bone
3	chr2:190253400-190268000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:190255800-190258400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:190255800-190258400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr2:190255800-190258400	Enhancers	HSMM	muscle
7	chr2:190255800-190258400	Enhancers	NHDF-Ad	bronchial
8	chr2:190256000-190257400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:190256000-190257400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:190256000-190259400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:190256200-190257200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr2:190256200-190258400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:190256400-190257400	Weak transcription	HMEC	breast
14	chr2:190256400-190257600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:190256800-190257400	Enhancers	Rectal Smooth Muscle	rectum
16	chr2:190256800-190258400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:190257000-190259400	Enhancers	NHEK	skin
18	chr2:190257000-190259400	Enhancers	NHLF	lung

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