Variant report

Variant	rs2112080
Chromosome Location	chr12:21982920-21982921
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11046202	1.00[YRI][hapmap]
rs11046212	0.94[JPT][hapmap]
rs11046215	0.88[JPT][hapmap]
rs12825295	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1283816	0.82[TSI][hapmap]
rs1283817	0.82[TSI][hapmap];0.82[AMR][1000 genomes]
rs1643235	0.83[CHB][hapmap];0.80[GIH][hapmap];0.94[JPT][hapmap];0.81[TSI][hapmap]
rs2098574	0.96[CEU][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.89[MEX][hapmap];0.98[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2161063	0.82[JPT][hapmap]
rs2307024	0.91[CHD][hapmap];0.88[JPT][hapmap]
rs3782667	0.83[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.85[MKK][hapmap];0.91[TSI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4148673	0.82[CHB][hapmap];0.94[CHD][hapmap];0.88[JPT][hapmap];0.84[TSI][hapmap];0.81[ASN][1000 genomes]
rs4148674	0.82[JPT][hapmap];0.82[TSI][hapmap]
rs704175	0.81[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs704185	0.94[JPT][hapmap]
rs704187	0.88[JPT][hapmap]
rs704189	0.88[JPT][hapmap]
rs704190	0.82[JPT][hapmap]
rs704191	0.82[JPT][hapmap]
rs704192	0.82[JPT][hapmap]
rs861202	0.80[AMR][1000 genomes]
rs864360	0.96[CEU][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][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	nsv557741	chr12:21578559-22169854	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1051073	chr12:21910875-22271209	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv470275	chr12:21938544-22126314	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21958400-22003000	Weak transcription	Psoas Muscle	Psoas
2	chr12:21973800-21994800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:21973800-22025400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:21976200-21984400	Weak transcription	Fetal Kidney	kidney
5	chr12:21979600-21983200	Enhancers	Fetal Stomach	stomach
6	chr12:21980600-22002800	Weak transcription	Fetal Heart	heart
7	chr12:21981600-21984400	Weak transcription	Colon Smooth Muscle	Colon
8	chr12:21981600-21984400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr12:21981800-21983800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr12:21981800-21991000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr12:21982000-21984200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:21982000-21984200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:21982000-21984200	Weak transcription	NHLF	lung
14	chr12:21982000-21984400	Weak transcription	Fetal Muscle Leg	muscle
15	chr12:21982000-21984400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr12:21982000-21984400	Weak transcription	Osteobl	bone
17	chr12:21982000-21989200	Weak transcription	Left Ventricle	heart
18	chr12:21982000-21989400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr12:21982200-21983600	Weak transcription	Liver	Liver
20	chr12:21982200-21984200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:21982200-21984200	Weak transcription	Fetal Lung	lung
22	chr12:21982200-21984400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:21982200-21984400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr12:21982200-21984400	Weak transcription	Aorta	Aorta
25	chr12:21982200-21984400	Weak transcription	NHDF-Ad	bronchial
26	chr12:21982200-21984600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr12:21982400-21983600	Weak transcription	Ovary	ovary
28	chr12:21982600-21984200	Weak transcription	Adipose Nuclei	Adipose
29	chr12:21982600-21984400	Weak transcription	Rectal Smooth Muscle	rectum

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