Variant report

Variant	rs12485582
Chromosome Location	chr3:47063324-47063325
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12486248	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12487863	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12489851	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12491419	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12493723	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12497141	0.82[ASN][1000 genomes]
rs17079425	1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2305632	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2305640	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35201996	0.96[ASN][1000 genomes]
rs3816531	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4683276	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4683321	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs60285825	0.86[AMR][1000 genomes]
rs61364027	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7372834	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7638049	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3461834	chr3:46977730-47173228	Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv3461835	chr3:46977822-47173168	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	esv3461836	chr3:46977822-47173168	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv876756	chr3:47002931-47586514	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
5	nsv997261	chr3:47054766-47133680	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47050200-47063800	Weak transcription	Stomach Mucosa	stomach
2	chr3:47051400-47064000	Weak transcription	Small Intestine	intestine
3	chr3:47057200-47066600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:47058800-47069800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:47059400-47066400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr3:47059400-47066400	Strong transcription	Primary T cells from cord blood	blood
7	chr3:47059800-47063600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr3:47059800-47063800	Weak transcription	Pancreas	Pancrea
9	chr3:47059800-47067200	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr3:47059800-47073000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr3:47060000-47064400	Genic enhancers	Dnd41	blood
12	chr3:47060000-47064800	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr3:47060000-47066400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr3:47060400-47066600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr3:47060600-47063400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr3:47060600-47064200	Weak transcription	Gastric	stomach
17	chr3:47060600-47073800	Weak transcription	Lung	lung
18	chr3:47060800-47064000	Strong transcription	Thymus	Thymus
19	chr3:47061000-47076200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr3:47061000-47079000	Weak transcription	Fetal Brain Male	brain
21	chr3:47061200-47063600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr3:47061200-47063800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr3:47061200-47063800	Weak transcription	Fetal Heart	heart
24	chr3:47061200-47064200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr3:47061200-47069600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr3:47061200-47069800	Weak transcription	Spleen	Spleen
27	chr3:47061200-47072400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr3:47061200-47076000	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr3:47061200-47083000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr3:47061400-47063600	Weak transcription	Ovary	ovary
31	chr3:47061400-47064000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr3:47061400-47065800	Strong transcription	Fetal Thymus	thymus
33	chr3:47061400-47066400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr3:47061400-47069600	Weak transcription	HMEC	breast
35	chr3:47061400-47073600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr3:47061400-47074600	Weak transcription	Hela-S3	cervix
37	chr3:47061400-47076000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr3:47061400-47076200	Weak transcription	HSMMtube	muscle
39	chr3:47061600-47063800	Weak transcription	Brain Hippocampus Middle	brain
40	chr3:47061600-47066200	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr3:47061600-47066400	Weak transcription	NH-A	brain
42	chr3:47061800-47063600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr3:47061800-47063800	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr3:47061800-47063800	Weak transcription	NHDF-Ad	bronchial
45	chr3:47061800-47063800	Weak transcription	Osteobl	bone
46	chr3:47061800-47066200	Weak transcription	Brain Angular Gyrus	brain
47	chr3:47061800-47066400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr3:47061800-47066600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr3:47061800-47069800	Weak transcription	Placenta	Placenta
50	chr3:47061800-47074200	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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