Variant report

Variant	rs73390446
Chromosome Location	chr12:104404895-104404896
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10778307	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11111864	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11553765	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12581921	0.90[ASN][1000 genomes]
rs17035129	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1872476	0.99[ASN][1000 genomes]
rs2293626	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2583230	0.99[ASN][1000 genomes]
rs2583232	0.96[ASN][1000 genomes]
rs2629798	0.99[ASN][1000 genomes]
rs2629799	0.99[ASN][1000 genomes]
rs2722210	0.95[ASN][1000 genomes]
rs2888805	0.83[AMR][1000 genomes]
rs3751207	0.80[AMR][1000 genomes]
rs3751208	0.80[AMR][1000 genomes]
rs3829300	0.80[AMR][1000 genomes]
rs4135060	0.80[AMR][1000 genomes]
rs4135076	0.80[AMR][1000 genomes]
rs4135078	0.80[AMR][1000 genomes]
rs4135082	0.80[AMR][1000 genomes]
rs4135085	0.80[AMR][1000 genomes]
rs4135086	0.80[AMR][1000 genomes]
rs4135094	0.80[AMR][1000 genomes]
rs4135095	0.80[AMR][1000 genomes]
rs4135118	0.85[AMR][1000 genomes]
rs4135131	0.83[AMR][1000 genomes]
rs4135150	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55871448	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55893407	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs60534873	0.80[AMR][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:42 , 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	chr12:104401400-104405000	Weak transcription	A549	lung
7	chr12:104402200-104409600	Weak transcription	Fetal Intestine Large	intestine
8	chr12:104402600-104410200	Weak transcription	Lung	lung
9	chr12:104403000-104407400	Weak transcription	Fetal Lung	lung
10	chr12:104403000-104409000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:104403800-104405400	Genic enhancers	Fetal Muscle Leg	muscle
12	chr12:104404000-104405200	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr12:104404000-104405200	Enhancers	NHLF	lung
14	chr12:104404000-104405400	Enhancers	Right Atrium	heart
15	chr12:104404000-104405600	Strong transcription	Fetal Stomach	stomach
16	chr12:104404000-104410000	Strong transcription	Stomach Smooth Muscle	stomach
17	chr12:104404200-104405200	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr12:104404200-104406400	Enhancers	NHDF-Ad	bronchial
19	chr12:104404400-104405000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:104404400-104405000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr12:104404400-104405600	Enhancers	NH-A	brain
22	chr12:104404400-104405600	Enhancers	Osteobl	bone
23	chr12:104404400-104405800	Enhancers	Psoas Muscle	Psoas
24	chr12:104404400-104405800	Enhancers	HUVEC	blood vessel
25	chr12:104404600-104405000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:104404600-104405400	Enhancers	Left Ventricle	heart
27	chr12:104404600-104405600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr12:104404600-104405600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr12:104404600-104405600	Enhancers	HMEC	breast
30	chr12:104404600-104406000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr12:104404600-104406600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr12:104404600-104407200	Enhancers	HSMM	muscle
33	chr12:104404800-104405000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:104404800-104405200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:104404800-104405200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr12:104404800-104405200	Enhancers	Brain Anterior Caudate	brain
37	chr12:104404800-104405200	Flanking Active TSS	Hela-S3	cervix
38	chr12:104404800-104405200	Flanking Active TSS	HSMMtube	muscle
39	chr12:104404800-104405400	Enhancers	NHEK	skin
40	chr12:104404800-104405600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr12:104404800-104405600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr12:104404800-104405800	Enhancers	K562	blood

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