Variant report

Variant	rs11265131
Chromosome Location	chr1:158991466-158991467
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1057027	1.00[CHB][hapmap];0.89[JPT][hapmap];0.94[ASN][1000 genomes]
rs1057028	1.00[CHB][hapmap];0.89[JPT][hapmap];0.94[ASN][1000 genomes]
rs1101988	0.96[EUR][1000 genomes]
rs1101991	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1101993	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1101994	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1101995	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1101996	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1101997	0.86[EUR][1000 genomes]
rs1101998	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11265132	1.00[ASN][1000 genomes]
rs11265133	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12061402	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12087333	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12090965	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12093523	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12094545	0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12094692	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12094741	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12094786	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12120311	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12139793	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12144575	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12239136	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12240111	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1633256	1.00[CHB][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs1772414	0.95[CHB][hapmap];0.83[JPT][hapmap];0.88[ASN][1000 genomes]
rs1772415	0.95[CHB][hapmap];0.83[JPT][hapmap];0.88[ASN][1000 genomes]
rs2106094	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2106095	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2157694	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2157695	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2239890	1.00[ASN][1000 genomes]
rs2518553	0.94[ASN][1000 genomes]
rs2840312	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4531291	0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs4575082	0.85[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs55853408	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs56235865	1.00[ASN][1000 genomes]
rs56248786	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56348543	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56374780	1.00[ASN][1000 genomes]
rs60958912	0.98[ASN][1000 genomes]
rs66831955	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs67772786	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs67843408	1.00[ASN][1000 genomes]
rs73021886	1.00[ASN][1000 genomes]
rs74122214	0.95[ASN][1000 genomes]
rs7525853	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7535630	1.00[ASN][1000 genomes]
rs7535856	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7538035	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7540687	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7545770	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs856043	0.94[EUR][1000 genomes]
rs856046	0.81[CEU][hapmap];0.87[EUR][1000 genomes]
rs856049	0.86[CEU][hapmap];0.95[EUR][1000 genomes]
rs856050	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs856051	0.95[ASN][1000 genomes]
rs856052	1.00[CHB][hapmap];0.89[JPT][hapmap];0.95[ASN][1000 genomes]
rs856053	1.00[CHB][hapmap];0.89[JPT][hapmap];0.95[ASN][1000 genomes]
rs856054	0.90[CHB][hapmap];0.80[EUR][1000 genomes]
rs856055	1.00[CHB][hapmap];0.89[JPT][hapmap];0.95[ASN][1000 genomes]
rs856056	0.95[ASN][1000 genomes]
rs856057	0.95[ASN][1000 genomes]
rs856058	1.00[CHB][hapmap];0.89[JPT][hapmap];0.95[ASN][1000 genomes]
rs861318	0.95[CHB][hapmap];0.89[JPT][hapmap];0.95[ASN][1000 genomes]
rs866484	0.88[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	esv3376764	chr1:158761947-158998617	Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv3369957	chr1:158915589-159003393	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv872486	chr1:158979191-159090256	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158976000-159000800	Weak transcription	Gastric	stomach
2	chr1:158980200-159025400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:158982600-159027400	Weak transcription	Fetal Kidney	kidney
4	chr1:158982800-159000200	Weak transcription	Aorta	Aorta
5	chr1:158984000-158991600	Strong transcription	Fetal Lung	lung
6	chr1:158984000-159000800	Weak transcription	Right Ventricle	heart
7	chr1:158984200-159024200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:158984400-158995200	Strong transcription	Fetal Intestine Large	intestine
9	chr1:158984800-159027400	Weak transcription	Psoas Muscle	Psoas
10	chr1:158985400-159023800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:158985600-158995200	Strong transcription	Thymus	Thymus
12	chr1:158985800-158991600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:158985800-158991600	Strong transcription	Liver	Liver
14	chr1:158985800-158991600	Strong transcription	Duodenum Mucosa	Duodenum
15	chr1:158985800-158994400	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr1:158985800-158995200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:158985800-159005000	Weak transcription	Brain Angular Gyrus	brain
18	chr1:158986000-158991600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr1:158986000-158991600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:158986000-158991800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:158986000-158992400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:158986000-158994000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:158986000-158995000	Strong transcription	HSMM	muscle
24	chr1:158986000-158995200	Strong transcription	Osteobl	bone
25	chr1:158986000-159016200	Weak transcription	Stomach Mucosa	stomach
26	chr1:158986200-158992600	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr1:158986800-158991600	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr1:158987000-158995000	Strong transcription	HUVEC	blood vessel
29	chr1:158987000-158995200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:158987000-159000200	Weak transcription	Brain Substantia Nigra	brain
31	chr1:158987000-159000400	Weak transcription	Fetal Muscle Trunk	muscle
32	chr1:158987200-158991600	Strong transcription	Hela-S3	cervix
33	chr1:158987200-158991800	Strong transcription	Adipose Nuclei	Adipose
34	chr1:158987200-158992200	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr1:158987200-158996200	Strong transcription	Primary hematopoietic stem cells	blood
36	chr1:158987200-158998400	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr1:158987200-159000000	Weak transcription	Small Intestine	intestine
38	chr1:158987200-159000200	Weak transcription	Stomach Smooth Muscle	stomach
39	chr1:158987200-159000400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr1:158987200-159001200	Strong transcription	Fetal Thymus	thymus
41	chr1:158987600-158996400	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr1:158987800-158992000	Weak transcription	Fetal Stomach	stomach
43	chr1:158987800-158993400	Weak transcription	Fetal Intestine Small	intestine
44	chr1:158987800-159000200	Weak transcription	Esophagus	oesophagus
45	chr1:158988000-158991800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr1:158988000-158992400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr1:158988000-158993400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr1:158988000-158993600	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr1:158988000-158995200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr1:158988000-159002200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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