Variant report

Variant	rs360048
Chromosome Location	chr11:9716096-9716097
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10770057	0.86[ASN][1000 genomes]
rs11042471	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11042472	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11042473	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11042474	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11042475	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11042476	0.86[ASN][1000 genomes]
rs11042477	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11042478	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12272167	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12275468	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12283521	0.86[ASN][1000 genomes]
rs12291809	0.96[ASN][1000 genomes]
rs12295129	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12576997	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12577241	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1390680	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1496477	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1695613	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs2088293	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2101902	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2453831	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs2572936	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2572937	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2572938	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2572939	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2572940	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2572941	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2572942	0.85[ASN][1000 genomes]
rs2572947	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2572948	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2572949	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2572952	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2645014	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2645015	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2645016	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2645018	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2645019	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2645021	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2645022	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2645023	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2645024	0.83[ASW][hapmap];0.83[CHB][hapmap];0.85[CHD][hapmap];0.94[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2649047	0.85[ASW][hapmap];0.92[CHB][hapmap];0.85[CHD][hapmap];0.94[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2649048	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs34043654	0.84[ASN][1000 genomes]
rs34780673	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs360044	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs360045	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs360046	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs360050	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs360052	0.95[ASN][1000 genomes]
rs360053	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs376553	0.92[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs379692	0.85[ASW][hapmap];0.92[CHB][hapmap];0.85[CHD][hapmap];0.94[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs389534	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs397250	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs397602	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs397686	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs408569	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs416766	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs422061	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs431908	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs57239484	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67598578	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72484737	0.82[AMR][1000 genomes]
rs73410140	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs920081	0.85[ASW][hapmap];0.92[CHB][hapmap];0.85[CHD][hapmap];0.94[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs920082	0.91[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933855	chr11:9645441-10130519	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1053369	chr11:9647837-9876054	Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv553468	chr11:9667828-9827871	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs360048	SWAP70	cis	lymphoblastoid	seeQTL

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9686800-9716400	Weak transcription	Ovary	ovary
2	chr11:9704200-9723600	Weak transcription	HepG2	liver
3	chr11:9710200-9758400	Weak transcription	Psoas Muscle	Psoas
4	chr11:9710400-9732800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr11:9710600-9717000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr11:9710600-9722000	Weak transcription	Fetal Brain Female	brain
7	chr11:9711000-9717000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:9711200-9732800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr11:9711400-9717000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr11:9711400-9718800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:9711400-9754400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr11:9711600-9716400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr11:9711600-9716600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr11:9711600-9716600	Weak transcription	Fetal Stomach	stomach
15	chr11:9711600-9716800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr11:9711600-9723600	Weak transcription	Fetal Lung	lung
17	chr11:9711600-9724000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr11:9711600-9724400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr11:9711600-9725800	Weak transcription	HSMMtube	muscle
20	chr11:9711600-9729600	Weak transcription	Fetal Heart	heart
21	chr11:9711600-9730200	Weak transcription	Right Ventricle	heart
22	chr11:9711600-9731400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr11:9711600-9732800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr11:9711600-9733200	Weak transcription	Aorta	Aorta
25	chr11:9711600-9736600	Weak transcription	Gastric	stomach
26	chr11:9711800-9717400	Weak transcription	HSMM	muscle
27	chr11:9711800-9722000	Weak transcription	Stomach Smooth Muscle	stomach
28	chr11:9712600-9716600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr11:9713400-9724000	Weak transcription	Small Intestine	intestine
30	chr11:9713600-9716600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr11:9713600-9716600	Weak transcription	Osteobl	bone
32	chr11:9713600-9717200	Weak transcription	A549	lung
33	chr11:9713600-9723800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr11:9713600-9730000	Weak transcription	NH-A	brain
35	chr11:9714200-9716600	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr11:9714200-9717400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr11:9715000-9716600	Weak transcription	Fetal Intestine Small	intestine
38	chr11:9715000-9718800	Strong transcription	HUVEC	blood vessel
39	chr11:9715000-9718800	Strong transcription	NHDF-Ad	bronchial
40	chr11:9715000-9721600	Weak transcription	Duodenum Mucosa	Duodenum
41	chr11:9715000-9721800	Weak transcription	Fetal Kidney	kidney
42	chr11:9715200-9717800	Genic enhancers	Primary B cells from peripheral blood	blood
43	chr11:9715200-9720000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr11:9715400-9717600	Strong transcription	Left Ventricle	heart
45	chr11:9715400-9717800	Strong transcription	Lung	lung
46	chr11:9715400-9718000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr11:9715400-9718200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr11:9715400-9720000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr11:9715400-9730200	Weak transcription	Pancreas	Pancrea
50	chr11:9715600-9716200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links