Variant report

Variant	rs10254950
Chromosome Location	chr7:79036238-79036239
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 119 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs1015639	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs10234403	0.82[JPT][hapmap]
rs10244234	0.86[EUR][1000 genomes]
rs10262441	0.84[EUR][1000 genomes]
rs10270764	0.82[JPT][hapmap]
rs10272027	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10281359	0.86[EUR][1000 genomes]
rs10452985	0.85[EUR][1000 genomes]
rs10485955	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs10953825	0.82[JPT][hapmap]
rs10953835	0.82[JPT][hapmap]
rs10953851	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10953852	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11976606	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11983573	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12666243	0.82[JPT][hapmap]
rs12672249	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12706102	0.82[JPT][hapmap]
rs1406152	0.83[JPT][hapmap]
rs1406165	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs1406166	0.84[EUR][1000 genomes]
rs1528259	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs1528260	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs1528278	0.86[EUR][1000 genomes]
rs1528279	0.86[EUR][1000 genomes]
rs1528282	0.83[EUR][1000 genomes]
rs1554834	0.83[JPT][hapmap]
rs16886545	0.83[EUR][1000 genomes]
rs16886548	0.83[EUR][1000 genomes]
rs17152382	0.82[EUR][1000 genomes]
rs17421243	0.91[CEU][hapmap];0.84[EUR][1000 genomes]
rs1859599	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs1918935	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs1918939	0.82[JPT][hapmap]
rs2158708	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2190174	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs2190175	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2190179	0.81[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs2364902	0.83[JPT][hapmap]
rs2364913	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2364918	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28396540	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28459297	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28691838	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2886212	0.82[JPT][hapmap]
rs34599162	0.86[EUR][1000 genomes]
rs35763479	0.86[EUR][1000 genomes]
rs4129689	0.82[JPT][hapmap]
rs41364851	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs4141207	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4141208	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4143262	0.82[JPT][hapmap]
rs4256536	0.82[JPT][hapmap]
rs4562253	0.82[EUR][1000 genomes]
rs4730746	0.82[JPT][hapmap]
rs4730747	0.82[JPT][hapmap]
rs4730806	0.86[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs55637636	0.86[EUR][1000 genomes]
rs55713683	0.86[EUR][1000 genomes]
rs58310347	0.86[EUR][1000 genomes]
rs6466621	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66499867	0.86[EUR][1000 genomes]
rs66775453	0.86[EUR][1000 genomes]
rs66778115	0.86[EUR][1000 genomes]
rs66900251	0.86[EUR][1000 genomes]
rs66961385	0.86[EUR][1000 genomes]
rs67092648	0.86[EUR][1000 genomes]
rs67122557	0.86[EUR][1000 genomes]
rs67289031	0.86[EUR][1000 genomes]
rs67486505	0.86[EUR][1000 genomes]
rs67685126	0.84[EUR][1000 genomes]
rs68113978	0.86[EUR][1000 genomes]
rs6946286	0.86[JPT][hapmap]
rs6947186	0.86[EUR][1000 genomes]
rs6964030	0.85[EUR][1000 genomes]
rs6964349	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs6966753	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs727391	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73141612	0.86[EUR][1000 genomes]
rs73156041	0.83[EUR][1000 genomes]
rs73156043	0.83[EUR][1000 genomes]
rs73156068	0.82[EUR][1000 genomes]
rs73156084	0.83[EUR][1000 genomes]
rs73157803	0.86[EUR][1000 genomes]
rs73157805	0.86[EUR][1000 genomes]
rs73157824	0.86[EUR][1000 genomes]
rs73157844	0.86[EUR][1000 genomes]
rs73157878	0.86[EUR][1000 genomes]
rs73381312	0.85[EUR][1000 genomes]
rs7341488	0.83[JPT][hapmap]
rs7455557	0.85[EUR][1000 genomes]
rs7778707	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs7785706	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7788509	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7792796	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7795832	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7799230	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7803773	0.88[EUR][1000 genomes]
rs7806210	0.83[EUR][1000 genomes]
rs7807048	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7808561	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs970491	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs984708	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs991259	0.87[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs9918566	0.86[EUR][1000 genomes]
rs993860	0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9969308	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9969320	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464598	chr7:78492642-79483480	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv607659	chr7:78492642-79483480	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1029799	chr7:78608097-79061737	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2764028	chr7:78874740-79112630	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv888514	chr7:78987060-79061837	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv888515	chr7:78987060-79221707	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv607664	chr7:78998409-79057761	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv607665	chr7:79027730-79063644	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv607666	chr7:79029872-79063644	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv607667	chr7:79029872-79065268	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv607668	chr7:79029872-79070452	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79029800-79036400	Enhancers	Liver	Liver
2	chr7:79030800-79036800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr7:79031000-79040800	Weak transcription	Brain Anterior Caudate	brain
4	chr7:79033600-79036400	Weak transcription	Fetal Heart	heart
5	chr7:79033600-79039600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:79034200-79036800	Enhancers	HepG2	liver
7	chr7:79034600-79037000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr7:79034600-79037400	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr7:79034600-79037600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:79034800-79036800	Enhancers	A549	lung
11	chr7:79034800-79038200	Enhancers	Brain Substantia Nigra	brain
12	chr7:79035400-79037000	Enhancers	Brain Hippocampus Middle	brain
13	chr7:79035600-79036600	Weak transcription	Adipose Nuclei	Adipose
14	chr7:79035600-79037400	Enhancers	Brain Cingulate Gyrus	brain
15	chr7:79035600-79037400	Enhancers	Osteobl	bone
16	chr7:79036000-79036400	Weak transcription	NHLF	lung
17	chr7:79036000-79036800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:79036000-79036800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr7:79036200-79036400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:79036200-79037400	Enhancers	Brain Angular Gyrus	brain

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