Variant report

Variant	rs11716281
Chromosome Location	chr3:98672015-98672016
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10433438	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10511169	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10511171	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10935518	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10935542	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10935564	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10935610	0.86[AMR][1000 genomes]
rs11708475	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11716000	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11716007	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11716579	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11719660	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11914591	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11918243	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11918944	1.00[ASN][1000 genomes]
rs11920205	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11920327	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11922078	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11923486	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11923805	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11928233	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13069458	1.00[ASN][1000 genomes]
rs1471588	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16840260	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17212369	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17213336	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17278047	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17278278	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17852693	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1827158	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55650073	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55662129	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55730510	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55764252	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55988144	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56290036	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56322058	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62276861	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62276862	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62276864	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62276869	1.00[ASN][1000 genomes]
rs62276879	0.94[ASN][1000 genomes]
rs62276883	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62276884	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62276885	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62276888	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62276909	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62276944	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6440253	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66517942	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6805605	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73138027	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73138030	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73138048	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73138053	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73138055	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73138058	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73138063	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73138082	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73140009	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73140027	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73140032	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7432439	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7614892	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7629550	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7638009	1.00[ASN][1000 genomes]
rs7642785	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs982291	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv591065	chr3:98204198-98766326	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1007140	chr3:98421229-99202458	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription 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	17 gene(s)	inside rSNPs	diseases
3	nsv536663	chr3:98421229-99202458	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers 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
4	nsv877214	chr3:98445324-98738006	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1007486	chr3:98597738-99249081	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	esv3440755	chr3:98666311-98680865	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98664800-98673000	Weak transcription	Osteobl	bone
2	chr3:98667000-98672400	Weak transcription	NHDF-Ad	bronchial
3	chr3:98669400-98672600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:98670400-98673600	Weak transcription	A549	lung
5	chr3:98670600-98675600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr3:98671600-98673600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr3:98672000-98672600	Weak transcription	Fetal Muscle Leg	muscle
8	chr3:98672000-98672800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr3:98672000-98673000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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