Variant report

Variant	rs1469665
Chromosome Location	chr12:105711351-105711352
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11831950	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11836865	0.92[CEU][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1469663	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1864892	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4964131	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4964132	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4964359	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56032632	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56130330	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs66467637	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67114583	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67454169	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7316324	0.81[ASN][1000 genomes]
rs73181867	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73181871	0.85[AMR][1000 genomes];0.98[EUR][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	nsv899499	chr12:105616297-105722529	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv510589	chr12:105670071-105743755	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105706400-105715000	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr12:105708600-105711600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:105708600-105711600	Enhancers	HMEC	breast
4	chr12:105708600-105712400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:105708800-105712200	Enhancers	NHEK	skin
6	chr12:105709000-105711600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:105709200-105711800	Enhancers	Fetal Intestine Large	intestine
8	chr12:105709200-105711800	Enhancers	NHDF-Ad	bronchial
9	chr12:105709200-105712000	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr12:105709200-105712600	Enhancers	Muscle Satellite Cultured Cells	--
11	chr12:105709400-105711600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:105709400-105711600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr12:105709400-105712200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:105709400-105712400	Enhancers	HSMM	muscle
15	chr12:105709400-105712600	Enhancers	Osteobl	bone
16	chr12:105709400-105717200	Enhancers	Fetal Intestine Small	intestine
17	chr12:105709600-105711400	Weak transcription	Hela-S3	cervix
18	chr12:105709600-105712600	Enhancers	NHLF	lung
19	chr12:105709600-105713400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr12:105709800-105713800	Weak transcription	Primary T cells from cord blood	blood
21	chr12:105709800-105714600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr12:105710000-105713200	Weak transcription	Gastric	stomach
23	chr12:105710000-105713600	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr12:105710000-105715000	Weak transcription	Lung	lung
25	chr12:105710600-105712200	Enhancers	HSMMtube	muscle
26	chr12:105710600-105712800	Enhancers	NH-A	brain
27	chr12:105710600-105716200	Enhancers	Stomach Mucosa	stomach
28	chr12:105710800-105711400	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr12:105710800-105712000	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr12:105711000-105711400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr12:105711000-105711400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr12:105711000-105711600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr12:105711000-105711600	Enhancers	Pancreas	Pancrea
34	chr12:105711000-105711600	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr12:105711000-105711600	Flanking Active TSS	HepG2	liver
36	chr12:105711000-105711800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:105711000-105711800	Enhancers	Fetal Kidney	kidney
38	chr12:105711000-105712600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr12:105711000-105712600	Enhancers	Duodenum Mucosa	Duodenum
40	chr12:105711000-105712600	Flanking Active TSS	A549	lung
41	chr12:105711000-105716800	Enhancers	Liver	Liver
42	chr12:105711200-105711400	Enhancers	Placenta Amnion	Placenta Amnion
43	chr12:105711200-105711800	Enhancers	Colonic Mucosa	Colon
44	chr12:105711200-105713400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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