Variant report

Variant	rs12491594
Chromosome Location	chr3:53355099-53355100
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11915147	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11919567	0.88[ASN][1000 genomes]
rs12487816	1.00[AMR][1000 genomes]
rs12488901	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12492129	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12494167	0.81[AMR][1000 genomes]
rs12496449	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12496915	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12631120	0.81[AMR][1000 genomes]
rs1961499	0.81[AMR][1000 genomes]
rs2128710	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs73843118	0.86[AMR][1000 genomes];0.92[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	nsv876801	chr3:53325905-53467506	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
2	nsv876802	chr3:53325905-53470863	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	12 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	chr3:53326600-53364400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr3:53327200-53358200	Weak transcription	K562	blood
3	chr3:53332600-53355600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr3:53334600-53355200	Strong transcription	Fetal Stomach	stomach
5	chr3:53334600-53358400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr3:53338000-53374000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr3:53338200-53355200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr3:53338200-53380200	Weak transcription	Fetal Brain Male	brain
9	chr3:53338400-53367400	Weak transcription	Small Intestine	intestine
10	chr3:53344000-53364200	Weak transcription	Right Ventricle	heart
11	chr3:53344600-53355600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr3:53344600-53358200	Weak transcription	Pancreas	Pancrea
13	chr3:53345800-53357800	Strong transcription	Fetal Intestine Small	intestine
14	chr3:53345800-53362600	Weak transcription	NHLF	lung
15	chr3:53346000-53373600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr3:53346200-53365200	Weak transcription	Fetal Kidney	kidney
17	chr3:53346200-53378600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr3:53346400-53358200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr3:53346400-53358200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr3:53346400-53358200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr3:53346400-53360400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:53346400-53360400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr3:53346400-53360400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr3:53346400-53360400	Weak transcription	Aorta	Aorta
25	chr3:53346400-53360400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr3:53346400-53362200	Weak transcription	Stomach Mucosa	stomach
27	chr3:53346400-53362800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr3:53346400-53365400	Weak transcription	Brain Angular Gyrus	brain
29	chr3:53346400-53367600	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr3:53346400-53370000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr3:53346600-53380600	Weak transcription	Spleen	Spleen
32	chr3:53347000-53357200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr3:53347000-53359200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr3:53347200-53360400	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr3:53347200-53371400	Weak transcription	HMEC	breast
36	chr3:53347400-53360600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr3:53350000-53356200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr3:53350200-53355600	Strong transcription	HepG2	liver
39	chr3:53350400-53355200	Strong transcription	Primary B cells from peripheral blood	blood
40	chr3:53350600-53355600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr3:53350800-53357400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr3:53351000-53355600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr3:53352000-53362200	Weak transcription	Right Atrium	heart
44	chr3:53352200-53365400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr3:53352400-53358200	Weak transcription	Gastric	stomach
46	chr3:53352800-53355200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr3:53352800-53380600	Weak transcription	Esophagus	oesophagus
48	chr3:53353000-53356600	Weak transcription	Fetal Muscle Trunk	muscle
49	chr3:53353000-53357000	Weak transcription	Ovary	ovary
50	chr3:53353000-53358200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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