Variant report

Variant	rs7001753
Chromosome Location	chr8:42612378-42612379
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10087172	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10092346	0.90[AMR][1000 genomes]
rs10107450	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10108797	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10109040	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10109429	0.92[ASN][1000 genomes]
rs10109864	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10110332	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1072003	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10808962	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11986893	0.81[AMR][1000 genomes]
rs11995030	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2082591	0.82[AMR][1000 genomes]
rs2117225	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2196128	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2217732	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2304297	0.94[ASN][1000 genomes]
rs28501554	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28784665	0.82[AMR][1000 genomes]
rs28826992	0.82[AMR][1000 genomes]
rs4509313	0.83[AMR][1000 genomes]
rs4567031	0.83[AMR][1000 genomes]
rs4737068	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4737071	0.81[AMR][1000 genomes]
rs56395510	0.82[AMR][1000 genomes]
rs6474418	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6474420	0.83[AMR][1000 genomes]
rs6982753	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6984252	0.83[AMR][1000 genomes]
rs6999449	0.88[AMR][1000 genomes]
rs7000412	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7002223	0.94[ASN][1000 genomes]
rs7004108	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7015935	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7017612	0.93[ASN][1000 genomes]
rs7812298	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7824155	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7824614	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7825261	0.88[AMR][1000 genomes]
rs7825907	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7828366	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7831096	0.82[AMR][1000 genomes]
rs7839964	0.92[ASN][1000 genomes]
rs7841834	0.81[AMR][1000 genomes]
rs7845663	0.94[ASN][1000 genomes]
rs892413	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9298628	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9298629	0.89[EUR][1000 genomes];0.94[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	nsv530880	chr8:41895241-42755506	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1034724	chr8:42386707-42772203	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv1030451	chr8:42543326-42618390	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1034121	chr8:42549810-42618713	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv428516	chr8:42577171-42731235	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42601200-42615400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:42608800-42629200	Weak transcription	Right Atrium	heart
3	chr8:42610200-42613400	Weak transcription	HepG2	liver
4	chr8:42610200-42615600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:42611400-42613600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr8:42611400-42614400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr8:42611400-42615600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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