Variant report

Variant	rs2116676
Chromosome Location	chr12:105708356-105708357
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1196780	0.86[JPT][hapmap]
rs1209637	0.86[JPT][hapmap]
rs17036919	0.83[ASN][1000 genomes]
rs17036923	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1882148	1.00[TSI][hapmap]
rs2116677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4372554	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4544094	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57393988	1.00[AMR][1000 genomes]
rs57456392	1.00[AMR][1000 genomes]
rs57877894	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58301361	1.00[AMR][1000 genomes]
rs59811168	1.00[AMR][1000 genomes]
rs60725801	1.00[AMR][1000 genomes]
rs72487518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7294681	1.00[TSI][hapmap]
rs7296708	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7297845	1.00[TSI][hapmap]
rs7307834	1.00[AMR][1000 genomes]
rs73395758	1.00[AMR][1000 genomes]
rs73395770	1.00[AMR][1000 genomes]
rs73395771	1.00[AMR][1000 genomes]
rs73395772	1.00[AMR][1000 genomes]
rs73395783	1.00[AMR][1000 genomes]
rs73395785	1.00[AMR][1000 genomes]
rs73399763	1.00[EUR][1000 genomes]
rs73399769	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73399775	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73399778	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73399779	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73399781	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73399782	1.00[EUR][1000 genomes]
rs73399787	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73399794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73401704	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73401705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73401708	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv899499	chr12:105616297-105722529	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv510589	chr12:105670071-105743755	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105695800-105709200	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr12:105696200-105709400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:105701800-105709400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr12:105702600-105709400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:105704200-105711000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr12:105705200-105709600	Weak transcription	Aorta	Aorta
7	chr12:105705400-105708400	Weak transcription	Stomach Mucosa	stomach
8	chr12:105705400-105708800	Weak transcription	A549	lung
9	chr12:105706400-105708600	Weak transcription	HMEC	breast
10	chr12:105706400-105708800	Weak transcription	NHEK	skin
11	chr12:105706400-105709000	Weak transcription	HSMM	muscle
12	chr12:105706400-105709200	Weak transcription	Hela-S3	cervix
13	chr12:105706400-105709200	Weak transcription	NHDF-Ad	bronchial
14	chr12:105706400-105709400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:105706400-105709400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:105706400-105709400	Weak transcription	Osteobl	bone
17	chr12:105706400-105709600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:105706400-105709600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:105706400-105709600	Weak transcription	NHLF	lung
20	chr12:105706400-105715000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr12:105706600-105708800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr12:105706600-105711000	Weak transcription	Fetal Kidney	kidney
23	chr12:105708000-105708600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:105708000-105708600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr12:105708200-105709600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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