Variant report

Variant	rs12496915
Chromosome Location	chr3:53323719-53323720
allele	A/C
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:13)

rs_ID	r²[population]
rs11915147	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11919567	0.96[ASN][1000 genomes]
rs12487816	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs12488901	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12491594	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12492129	1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12494167	0.81[AMR][1000 genomes]
rs12496449	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12631120	0.81[AMR][1000 genomes]
rs1961499	0.81[AMR][1000 genomes]
rs2128710	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs41332244	1.00[CHD][hapmap];0.91[GIH][hapmap]
rs73843118	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834699	chr3:53151876-53325808	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer 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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53304600-53325600	Weak transcription	Fetal Heart	heart
2	chr3:53304600-53326200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr3:53305000-53324400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:53309400-53351200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:53309800-53325600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr3:53309800-53326200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr3:53312200-53337400	Weak transcription	Psoas Muscle	Psoas
8	chr3:53312400-53328000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr3:53314200-53325600	Weak transcription	Colonic Mucosa	Colon
10	chr3:53314200-53326400	Weak transcription	K562	blood
11	chr3:53315200-53326800	Strong transcription	Primary B cells from cord blood	blood
12	chr3:53315200-53333800	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr3:53315200-53338400	Strong transcription	Fetal Muscle Trunk	muscle
14	chr3:53316400-53333600	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr3:53316400-53337600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr3:53316600-53324400	Strong transcription	Left Ventricle	heart
17	chr3:53316600-53327200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr3:53316600-53327200	Strong transcription	Liver	Liver
19	chr3:53316600-53329200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr3:53316600-53333600	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr3:53316600-53333800	Strong transcription	Placenta	Placenta
22	chr3:53316600-53338600	Strong transcription	Fetal Muscle Leg	muscle
23	chr3:53317000-53326000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr3:53317200-53332600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr3:53317400-53332200	Weak transcription	Small Intestine	intestine
26	chr3:53317800-53329200	Strong transcription	Fetal Intestine Small	intestine
27	chr3:53317800-53330600	Strong transcription	Fetal Stomach	stomach
28	chr3:53318000-53327400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr3:53318000-53328800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr3:53318000-53329200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr3:53318000-53345000	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr3:53318000-53345800	Weak transcription	Stomach Mucosa	stomach
33	chr3:53318600-53327000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr3:53318600-53327200	Strong transcription	Fetal Lung	lung
35	chr3:53319400-53326000	Weak transcription	Esophagus	oesophagus
36	chr3:53319400-53326000	Weak transcription	Pancreas	Pancrea
37	chr3:53319800-53326000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr3:53319800-53326000	Weak transcription	Ovary	ovary
39	chr3:53320000-53325600	Weak transcription	HMEC	breast
40	chr3:53320200-53326800	Strong transcription	Brain Germinal Matrix	brain
41	chr3:53320600-53324400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr3:53320600-53332400	Weak transcription	Hela-S3	cervix
43	chr3:53321000-53324000	Weak transcription	Primary hematopoietic stem cells	blood
44	chr3:53321000-53325600	Weak transcription	A549	lung
45	chr3:53321000-53326000	Weak transcription	NHLF	lung
46	chr3:53321200-53327000	Strong transcription	Fetal Thymus	thymus
47	chr3:53321400-53324600	Strong transcription	Spleen	Spleen
48	chr3:53321400-53325000	Weak transcription	HUVEC	blood vessel
49	chr3:53321400-53326000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr3:53321400-53326000	Weak transcription	Aorta	Aorta

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