Variant report

Variant	rs7950447
Chromosome Location	chr11:10144825-10144826
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 119 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:116)

rs_ID	r²[population]
rs10743129	0.81[EUR][1000 genomes]
rs10770103	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840327	0.90[CEU][hapmap];1.00[CHB][hapmap];0.87[GIH][hapmap];0.81[MEX][hapmap];0.85[TSI][hapmap]
rs10840330	0.85[CEU][hapmap]
rs10840333	0.85[CEU][hapmap]
rs10840334	0.85[CEU][hapmap]
rs10840337	0.90[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840338	0.95[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840344	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840359	0.90[EUR][1000 genomes]
rs10840375	0.85[EUR][1000 genomes]
rs10840377	1.00[CEU][hapmap]
rs11042550	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs11042556	1.00[CHB][hapmap]
rs11042559	0.90[CEU][hapmap];1.00[CHB][hapmap]
rs11042561	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[GIH][hapmap];0.91[MEX][hapmap];0.83[MKK][hapmap];0.94[TSI][hapmap]
rs11042571	0.85[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042578	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042579	0.95[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042580	0.81[EUR][1000 genomes]
rs11042593	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042595	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042601	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042609	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042615	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11042618	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042623	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042627	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042632	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11042641	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11042683	0.81[EUR][1000 genomes]
rs11042721	0.82[CEU][hapmap]
rs11042731	1.00[ASN][1000 genomes]
rs11600251	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11600489	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11603440	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11606561	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11607682	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11607703	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12360783	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12362060	0.95[CEU][hapmap]
rs12362938	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12364676	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12416695	1.00[ASN][1000 genomes]
rs12417184	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12418212	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12418514	1.00[ASN][1000 genomes]
rs12418619	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12419923	0.95[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12420122	0.83[EUR][1000 genomes]
rs12420734	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12420950	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12421096	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12421179	0.89[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12421200	0.95[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12421931	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1372807	0.91[CEU][hapmap];0.87[TSI][hapmap];0.91[EUR][1000 genomes]
rs1372808	0.83[EUR][1000 genomes]
rs1442737	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17271847	0.95[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17356792	0.95[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17359113	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1822291	0.84[EUR][1000 genomes]
rs1822292	0.95[CEU][hapmap];0.94[TSI][hapmap];0.80[EUR][1000 genomes]
rs1867135	0.85[EUR][1000 genomes]
rs2197171	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs2403227	0.86[CEU][hapmap]
rs2403229	0.86[CEU][hapmap];0.80[TSI][hapmap]
rs2403292	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs28731164	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34683105	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4271380	0.83[EUR][1000 genomes]
rs4281477	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4345958	1.00[ASN][1000 genomes]
rs4385889	0.84[EUR][1000 genomes]
rs4450168	1.00[ASN][1000 genomes]
rs4478985	0.90[EUR][1000 genomes]
rs4519084	0.84[EUR][1000 genomes]
rs4529876	0.91[EUR][1000 genomes]
rs4576815	0.86[CEU][hapmap];0.80[TSI][hapmap]
rs4625455	0.91[CEU][hapmap]
rs4643073	0.81[EUR][1000 genomes]
rs4909917	0.86[CEU][hapmap];0.80[TSI][hapmap]
rs4910084	1.00[CHB][hapmap]
rs4910086	0.86[CEU][hapmap];0.80[TSI][hapmap]
rs4910095	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4910098	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55788918	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55796222	0.83[EUR][1000 genomes]
rs56853694	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61877048	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61877049	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61878582	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61878587	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61878622	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61878636	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889838	1.00[ASN][1000 genomes]
rs61891765	1.00[ASN][1000 genomes]
rs7104093	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[MKK][hapmap];0.86[TSI][hapmap];1.00[ASN][1000 genomes]
rs7114303	0.91[CEU][hapmap];0.87[TSI][hapmap];0.90[EUR][1000 genomes]
rs7123453	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7123820	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7131445	0.95[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7924875	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7928959	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7931804	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7935774	0.84[EUR][1000 genomes]
rs7935934	1.00[CEU][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7938491	1.00[CEU][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7938502	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7938647	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7938788	0.91[CEU][hapmap];0.91[EUR][1000 genomes]
rs7945980	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7946995	0.89[EUR][1000 genomes]
rs7947306	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7948215	0.86[EUR][1000 genomes]

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	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv1039636	chr11:10126747-10280570	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1036041	chr11:10131018-10212202	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7950447	OR10A5	cis	cerebellum	SCAN
rs7950447	OR52B2	cis	parietal	SCAN

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10122200-10156400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:10123200-10156400	Weak transcription	Fetal Intestine Small	intestine
3	chr11:10137200-10161800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr11:10140000-10156200	Weak transcription	Fetal Lung	lung
5	chr11:10142600-10145000	Enhancers	NHDF-Ad	bronchial
6	chr11:10142600-10145800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:10142800-10145400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr11:10143000-10145000	Enhancers	Placenta Amnion	Placenta Amnion
9	chr11:10143400-10145000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:10143400-10146000	Enhancers	HMEC	breast
11	chr11:10143600-10145000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr11:10143600-10145000	Enhancers	Muscle Satellite Cultured Cells	--
13	chr11:10144000-10145000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr11:10144000-10145000	Enhancers	Rectal Smooth Muscle	rectum
15	chr11:10144200-10160800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr11:10144400-10145000	Flanking Active TSS	A549	lung
17	chr11:10144400-10152600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:10144600-10145000	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr11:10144600-10145000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr11:10144600-10145000	Flanking Active TSS	NHEK	skin
21	chr11:10144600-10156400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr11:10144800-10145000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr11:10144800-10145200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr11:10144800-10145400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr11:10144800-10145400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr11:10144800-10145600	Enhancers	Hela-S3	cervix
27	chr11:10144800-10147000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr11:10144800-10147000	Weak transcription	Osteobl	bone
29	chr11:10144800-10147200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr11:10144800-10147200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr11:10144800-10147800	Weak transcription	NHLF	lung
32	chr11:10144800-10148000	Weak transcription	Adipose Nuclei	Adipose
33	chr11:10144800-10152600	Weak transcription	Ovary	ovary
34	chr11:10144800-10154800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr11:10144800-10155200	Weak transcription	Stomach Smooth Muscle	stomach
36	chr11:10144800-10161400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr11:10144800-10161400	Weak transcription	HSMM	muscle
38	chr11:10144800-10170400	Weak transcription	Left Ventricle	heart

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