Variant report

Variant	rs12496449
Chromosome Location	chr3:53362100-53362101
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11915147	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11919567	0.96[ASN][1000 genomes]
rs12487816	1.00[AMR][1000 genomes]
rs12488901	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12491594	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12492129	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12494167	0.81[AMR][1000 genomes]
rs12496915	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]
rs73843118	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7626998	1.00[AFR][1000 genomes]
rs7628406	0.87[AFR][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	chr3:53338000-53374000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:53338200-53380200	Weak transcription	Fetal Brain Male	brain
4	chr3:53338400-53367400	Weak transcription	Small Intestine	intestine
5	chr3:53344000-53364200	Weak transcription	Right Ventricle	heart
6	chr3:53345800-53362600	Weak transcription	NHLF	lung
7	chr3:53346000-53373600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr3:53346200-53365200	Weak transcription	Fetal Kidney	kidney
9	chr3:53346200-53378600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr3:53346400-53362200	Weak transcription	Stomach Mucosa	stomach
11	chr3:53346400-53362800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr3:53346400-53365400	Weak transcription	Brain Angular Gyrus	brain
13	chr3:53346400-53367600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr3:53346400-53370000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr3:53346600-53380600	Weak transcription	Spleen	Spleen
16	chr3:53347200-53371400	Weak transcription	HMEC	breast
17	chr3:53352000-53362200	Weak transcription	Right Atrium	heart
18	chr3:53352200-53365400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr3:53352800-53380600	Weak transcription	Esophagus	oesophagus
20	chr3:53353000-53374600	Weak transcription	Fetal Brain Female	brain
21	chr3:53353000-53380600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr3:53353200-53365200	Weak transcription	HSMM	muscle
23	chr3:53353200-53365400	Weak transcription	NH-A	brain
24	chr3:53353400-53377000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr3:53353600-53365400	Weak transcription	NHDF-Ad	bronchial
26	chr3:53354000-53362200	Weak transcription	Placenta	Placenta
27	chr3:53354000-53371400	Weak transcription	NHEK	skin
28	chr3:53354200-53365400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr3:53354200-53367200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr3:53354400-53365400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr3:53355200-53362800	Weak transcription	Brain Anterior Caudate	brain
32	chr3:53355200-53363000	Weak transcription	Primary B cells from cord blood	blood
33	chr3:53355200-53365200	Weak transcription	Primary B cells from peripheral blood	blood
34	chr3:53355400-53368000	Weak transcription	Hela-S3	cervix
35	chr3:53355400-53371600	Weak transcription	HSMMtube	muscle
36	chr3:53356000-53362200	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr3:53356600-53363400	Strong transcription	GM12878-XiMat	blood
38	chr3:53358200-53378800	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr3:53358400-53364200	Weak transcription	Left Ventricle	heart
40	chr3:53358400-53365400	Weak transcription	Brain Substantia Nigra	brain
41	chr3:53358400-53380600	Weak transcription	Lung	lung
42	chr3:53358600-53370200	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr3:53358600-53371600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr3:53358600-53372200	Weak transcription	Pancreas	Pancrea
45	chr3:53358800-53362200	Weak transcription	Ovary	ovary
46	chr3:53358800-53362800	Weak transcription	Colon Smooth Muscle	Colon
47	chr3:53358800-53363000	Weak transcription	Brain Cingulate Gyrus	brain
48	chr3:53358800-53365400	Weak transcription	Fetal Lung	lung
49	chr3:53358800-53376200	Weak transcription	K562	blood
50	chr3:53359200-53362800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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