Variant report

Variant	rs12474611
Chromosome Location	chr2:231060061-231060062
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10168052	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10177277	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10755048	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10755049	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10755050	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10804364	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10933328	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1124534	0.85[ASN][1000 genomes]
rs12474616	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12474683	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12615975	0.84[ASN][1000 genomes]
rs12616762	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12618921	0.84[ASN][1000 genomes]
rs12619729	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12619732	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1469345	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1896258	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1896259	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1978583	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1985603	0.80[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2081714	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2114592	0.85[ASN][1000 genomes]
rs2396709	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2396711	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3769837	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs41309108	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs41345344	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs41423848	0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs4327229	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4327230	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4972942	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4973285	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4973286	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4973287	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4973288	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4973289	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4973290	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4973291	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4973292	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4973293	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4973294	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4973296	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4973297	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4973298	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55809057	0.85[ASN][1000 genomes]
rs55945652	0.87[ASN][1000 genomes]
rs55956818	0.80[ASN][1000 genomes]
rs56159955	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs56275915	0.84[ASN][1000 genomes]
rs56301614	0.84[ASN][1000 genomes]
rs56412815	0.84[ASN][1000 genomes]
rs59536070	0.85[ASN][1000 genomes]
rs61182521	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs6436919	0.88[EUR][1000 genomes]
rs6728512	0.83[AMR][1000 genomes]
rs6735604	0.90[EUR][1000 genomes]
rs6736220	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6743028	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67469122	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs6750748	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6751118	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6752361	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6755998	0.90[EUR][1000 genomes]
rs72982403	0.85[ASN][1000 genomes]
rs72982411	0.85[ASN][1000 genomes]
rs72982416	0.85[ASN][1000 genomes]
rs72982421	0.85[ASN][1000 genomes]
rs73000348	0.87[ASN][1000 genomes]
rs73000367	0.85[ASN][1000 genomes]
rs73000371	0.85[ASN][1000 genomes]
rs7561924	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7583769	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7592927	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7603350	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs930031	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs930032	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs958978	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007920	chr2:230775427-231065592	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1001562	chr2:230862717-231187043	Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv536156	chr2:230862717-231187043	Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv498047	chr2:230951712-231250489	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv869834	chr2:231045013-231139827	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv998291	chr2:231045388-231136278	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv584666	chr2:231050715-231106621	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231028400-231067000	Strong transcription	Primary B cells from peripheral blood	blood
2	chr2:231031400-231061200	Strong transcription	Primary B cells from cord blood	blood
3	chr2:231035400-231077000	Weak transcription	HepG2	liver
4	chr2:231035800-231062800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr2:231036800-231071800	Weak transcription	NHEK	skin
6	chr2:231036800-231073600	Weak transcription	HMEC	breast
7	chr2:231038000-231069600	Weak transcription	NHLF	lung
8	chr2:231041400-231064600	Weak transcription	Osteobl	bone
9	chr2:231042800-231062600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr2:231043000-231062800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:231043800-231062600	Weak transcription	Colon Smooth Muscle	Colon
12	chr2:231044600-231062600	Weak transcription	Psoas Muscle	Psoas
13	chr2:231044800-231062600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:231044800-231062800	Weak transcription	Pancreas	Pancrea
15	chr2:231045200-231062800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:231046000-231062600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:231046200-231062600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr2:231046200-231062800	Weak transcription	Right Ventricle	heart
19	chr2:231046200-231069800	Weak transcription	HSMM	muscle
20	chr2:231046400-231062400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr2:231047600-231062800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr2:231048000-231062600	Weak transcription	Brain Hippocampus Middle	brain
23	chr2:231048000-231062600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr2:231048000-231062800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr2:231048200-231062600	Weak transcription	Small Intestine	intestine
26	chr2:231048200-231062600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr2:231048200-231062800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:231048200-231062800	Weak transcription	Colonic Mucosa	Colon
29	chr2:231048200-231062800	Weak transcription	Gastric	stomach
30	chr2:231048200-231062800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr2:231048200-231062800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr2:231048400-231062800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:231049200-231062800	Weak transcription	Duodenum Mucosa	Duodenum
34	chr2:231049200-231062800	Weak transcription	Esophagus	oesophagus
35	chr2:231049800-231062600	Weak transcription	Placenta	Placenta
36	chr2:231050000-231062600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr2:231050200-231065000	Weak transcription	Brain Substantia Nigra	brain
38	chr2:231050600-231062800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:231050800-231062600	Weak transcription	Fetal Stomach	stomach
40	chr2:231050800-231062600	Weak transcription	Spleen	Spleen
41	chr2:231051000-231062600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr2:231057600-231060400	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr2:231057600-231060400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr2:231057600-231061200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr2:231057800-231060200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr2:231057800-231061000	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr2:231058000-231060200	ZNF genes & repeats	GM12878-XiMat	blood
48	chr2:231058000-231060400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
49	chr2:231058200-231060200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr2:231058200-231061200	Strong transcription	Primary neutrophils fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links