Variant report

Variant	rs2722210
Chromosome Location	chr12:104405779-104405780
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11553765	0.95[ASN][1000 genomes]
rs12581921	0.88[ASN][1000 genomes]
rs17035129	0.95[ASN][1000 genomes]
rs1872476	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2583230	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2583232	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2629798	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2629799	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55871448	0.94[ASN][1000 genomes]
rs73390446	0.95[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	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv427922	chr12:104325583-104523096	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104391200-104406200	Weak transcription	Colon Smooth Muscle	Colon
2	chr12:104391600-104406400	Weak transcription	Ovary	ovary
3	chr12:104393000-104407400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr12:104397200-104406200	Weak transcription	Aorta	Aorta
5	chr12:104400400-104406200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr12:104402200-104409600	Weak transcription	Fetal Intestine Large	intestine
7	chr12:104402600-104410200	Weak transcription	Lung	lung
8	chr12:104403000-104407400	Weak transcription	Fetal Lung	lung
9	chr12:104403000-104409000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr12:104404000-104410000	Strong transcription	Stomach Smooth Muscle	stomach
11	chr12:104404200-104406400	Enhancers	NHDF-Ad	bronchial
12	chr12:104404400-104405800	Enhancers	Psoas Muscle	Psoas
13	chr12:104404400-104405800	Enhancers	HUVEC	blood vessel
14	chr12:104404600-104406000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:104404600-104406600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:104404600-104407200	Enhancers	HSMM	muscle
17	chr12:104404800-104405800	Enhancers	K562	blood
18	chr12:104405000-104405800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:104405000-104407600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:104405200-104405800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:104405200-104405800	Enhancers	Hela-S3	cervix
22	chr12:104405200-104406000	Enhancers	HSMMtube	muscle
23	chr12:104405200-104406600	Enhancers	Muscle Satellite Cultured Cells	--
24	chr12:104405200-104409000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr12:104405200-104409800	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr12:104405200-104410200	Weak transcription	NHLF	lung
27	chr12:104405400-104405800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr12:104405400-104406000	Weak transcription	Fetal Muscle Leg	muscle
29	chr12:104405400-104407800	Weak transcription	Left Ventricle	heart
30	chr12:104405600-104406200	Weak transcription	HMEC	breast
31	chr12:104405600-104406400	Weak transcription	Fetal Stomach	stomach
32	chr12:104405600-104409000	Weak transcription	Osteobl	bone
33	chr12:104405600-104414000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr12:104405600-104414400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr12:104405600-104415800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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