Variant report

Variant	rs72728285
Chromosome Location	chr8:131713801-131713802
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10088420	0.85[EUR][1000 genomes]
rs10095393	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10095479	0.85[EUR][1000 genomes]
rs10095628	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10095820	0.85[EUR][1000 genomes]
rs10096321	0.84[EUR][1000 genomes]
rs10105307	0.85[EUR][1000 genomes]
rs10107223	0.85[EUR][1000 genomes]
rs10108730	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10112041	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11993977	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11995981	0.88[ASN][1000 genomes]
rs1509847	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16893283	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16893288	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16904339	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1912271	0.85[EUR][1000 genomes]
rs1912272	0.85[EUR][1000 genomes]
rs1961665	0.85[EUR][1000 genomes]
rs28379502	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28428945	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28430960	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28870411	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4294201	0.86[EUR][1000 genomes]
rs4472534	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4483174	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4560808	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59406705	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7002882	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7004166	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs715679	0.85[EUR][1000 genomes]
rs72728275	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72728278	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72730003	0.85[EUR][1000 genomes]
rs73344752	0.95[ASN][1000 genomes]
rs7822131	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7831277	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7832079	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7844774	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs952132	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs956481	0.83[EUR][1000 genomes];0.91[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	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915864	chr8:131509799-131754822	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv612294	chr8:131645079-131923377	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv891448	chr8:131668278-131968469	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv831462	chr8:131704119-131895793	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131712400-131714000	Weak transcription	HSMMtube	muscle
2	chr8:131713400-131714400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:131713600-131714200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr8:131713600-131714400	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr8:131713600-131714400	Enhancers	HSMM	muscle
6	chr8:131713800-131714200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:131713800-131714200	Enhancers	HMEC	breast
8	chr8:131713800-131714200	Enhancers	Osteobl	bone
9	chr8:131713800-131714400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:131713800-131714400	Enhancers	Muscle Satellite Cultured Cells	--

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