Variant report

Variant	rs73480070
Chromosome Location	chr6:70647200-70647201
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs12110870	0.98[ASN][1000 genomes]
rs1361518	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1934904	0.89[ASN][1000 genomes]
rs2345744	0.89[ASN][1000 genomes]
rs3793031	0.93[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs3793032	0.93[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs3793033	0.93[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs3793035	0.98[ASN][1000 genomes]
rs3805959	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3805963	1.00[ASN][1000 genomes]
rs3805965	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3805967	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3805978	0.89[ASN][1000 genomes]
rs4036075	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56293172	0.94[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs58134065	0.98[ASN][1000 genomes]
rs59501442	0.94[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs59599861	0.94[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs60134810	0.85[AFR][1000 genomes]
rs6455351	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6455352	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6455353	0.89[ASN][1000 genomes]
rs6899719	0.90[ASN][1000 genomes]
rs6903421	0.94[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs6910162	0.89[ASN][1000 genomes]
rs6912321	0.89[ASN][1000 genomes]
rs6935585	0.89[ASN][1000 genomes]
rs6938495	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73484256	0.87[ASN][1000 genomes]
rs7742627	0.94[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7751448	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7756062	0.89[ASN][1000 genomes]
rs9294855	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9360410	1.00[ASN][1000 genomes]
rs9446168	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9446171	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9446172	0.97[ASN][1000 genomes]
rs9454909	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9454912	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9454919	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9454930	0.97[ASN][1000 genomes]
rs9454932	0.89[ASN][1000 genomes]
rs9454935	0.87[ASN][1000 genomes]
rs9454937	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886140	chr6:70354682-70728202	Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv886141	chr6:70590638-70694162	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1026151	chr6:70621616-70946967	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv463151	chr6:70625166-70694162	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv603636	chr6:70625166-70694162	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:70638200-70648400	Weak transcription	GM12878-XiMat	blood
2	chr6:70642200-70653800	Strong transcription	Primary B cells from peripheral blood	blood
3	chr6:70642800-70649800	Strong transcription	Primary B cells from cord blood	blood
4	chr6:70645200-70648000	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr6:70646200-70647400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:70646400-70647600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:70646600-70647600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:70646600-70647600	Enhancers	Psoas Muscle	Psoas
9	chr6:70646600-70647800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr6:70646800-70647200	Enhancers	Muscle Satellite Cultured Cells	--
11	chr6:70646800-70647200	Enhancers	Aorta	Aorta
12	chr6:70646800-70647200	Enhancers	Fetal Heart	heart
13	chr6:70646800-70647800	Enhancers	Left Ventricle	heart
14	chr6:70647000-70647400	Weak transcription	Right Atrium	heart
15	chr6:70647200-70647600	Flanking Active TSS	Fetal Heart	heart
16	chr6:70647200-70647800	Enhancers	Right Ventricle	heart

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