Variant report

Variant	rs1228951
Chromosome Location	chr7:84042627-84042628
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10255354	0.81[EUR][1000 genomes]
rs1228866	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1228867	0.80[EUR][1000 genomes]
rs1228868	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1228875	0.80[EUR][1000 genomes]
rs1228876	0.80[EUR][1000 genomes]
rs1228878	0.80[EUR][1000 genomes]
rs1228946	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1228952	0.85[EUR][1000 genomes]
rs1228953	0.85[EUR][1000 genomes]
rs1228954	0.85[EUR][1000 genomes]
rs1228956	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1228958	0.85[EUR][1000 genomes]
rs1228959	0.85[EUR][1000 genomes]
rs1228961	0.85[EUR][1000 genomes]
rs1228963	0.84[EUR][1000 genomes]
rs13227369	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1520102	0.99[ASN][1000 genomes]
rs1557791	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1634605	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1634614	0.85[EUR][1000 genomes]
rs16887703	0.93[ASN][1000 genomes]
rs1715510	0.85[EUR][1000 genomes]
rs1715518	0.99[ASN][1000 genomes]
rs17158998	0.93[ASN][1000 genomes]
rs17159006	0.97[ASN][1000 genomes]
rs1922349	0.91[ASN][1000 genomes]
rs2106965	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2158169	0.81[EUR][1000 genomes]
rs2214749	0.99[ASN][1000 genomes]
rs2372453	0.81[EUR][1000 genomes]
rs2428807	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2428808	0.84[EUR][1000 genomes]
rs2527522	0.88[ASN][1000 genomes]
rs2527527	0.89[ASN][1000 genomes]
rs2527529	0.89[ASN][1000 genomes]
rs2527530	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2527532	0.88[ASN][1000 genomes]
rs2527533	0.89[ASN][1000 genomes]
rs2527535	0.89[ASN][1000 genomes]
rs2527536	0.86[ASN][1000 genomes]
rs2527537	0.89[ASN][1000 genomes]
rs2527538	0.89[ASN][1000 genomes]
rs2706903	0.89[ASN][1000 genomes]
rs2706912	0.99[ASN][1000 genomes]
rs2706913	0.99[ASN][1000 genomes]
rs2706916	0.93[ASN][1000 genomes]
rs2715032	0.89[ASN][1000 genomes]
rs2715037	0.88[ASN][1000 genomes]
rs2715044	0.91[ASN][1000 genomes]
rs2715045	0.91[ASN][1000 genomes]
rs2715046	0.91[ASN][1000 genomes]
rs2715047	0.91[ASN][1000 genomes]
rs2888321	0.81[EUR][1000 genomes]
rs2888322	0.97[ASN][1000 genomes]
rs4016106	0.87[ASN][1000 genomes]
rs505758	0.86[EUR][1000 genomes]
rs520178	0.96[ASN][1000 genomes]
rs526991	0.95[ASN][1000 genomes]
rs529539	0.93[ASN][1000 genomes]
rs530698	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs531582	0.97[ASN][1000 genomes]
rs555632	0.91[ASN][1000 genomes]
rs559041	0.97[ASN][1000 genomes]
rs56144625	0.97[ASN][1000 genomes]
rs561955	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs577142	0.86[EUR][1000 genomes]
rs622514	0.85[AFR][1000 genomes]
rs62474863	0.80[EUR][1000 genomes]
rs625480	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73711542	0.92[ASN][1000 genomes]
rs73711549	0.96[ASN][1000 genomes]
rs7783073	0.93[ASN][1000 genomes]
rs916865	0.80[EUR][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	nsv529344	chr7:83714286-84592857	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	esv2754468	chr7:83851249-84166749	Enhancers Weak transcription 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
3	nsv1023848	chr7:83985028-84101774	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv2761342	chr7:83985028-84101798	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv534431	chr7:84001059-84138511	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv949446	chr7:84003501-84763823	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:84038800-84042800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:84039000-84043000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:84041200-84042800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:84041200-84043000	Flanking Active TSS	A549	lung
5	chr7:84041400-84043000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:84041600-84042800	Enhancers	NHLF	lung
7	chr7:84042000-84042800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:84042000-84042800	Enhancers	NHEK	skin
9	chr7:84042000-84043000	Enhancers	NHDF-Ad	bronchial
10	chr7:84042200-84042800	Enhancers	NH-A	brain
11	chr7:84042600-84043000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:84042600-84043000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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