Variant report

Variant	rs10469758
Chromosome Location	chr2:206440495-206440496
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11684023	0.83[AMR][1000 genomes]
rs12471061	1.00[AMR][1000 genomes]
rs1473084	0.83[AMR][1000 genomes]
rs1974688	0.83[AMR][1000 genomes]
rs1988085	0.83[AMR][1000 genomes]
rs2058713	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2160383	0.83[AMR][1000 genomes]
rs2878751	0.83[AMR][1000 genomes]
rs4618031	0.83[AMR][1000 genomes]
rs4625893	0.83[AMR][1000 genomes]
rs4675534	0.83[AMR][1000 genomes]
rs6719612	0.85[AMR][1000 genomes]
rs6730102	0.83[AMR][1000 genomes]
rs6743334	0.83[AMR][1000 genomes]
rs7349394	0.83[AMR][1000 genomes]
rs738074	0.83[AMR][1000 genomes]
rs7594189	1.00[AMR][1000 genomes]
rs764150	0.83[AMR][1000 genomes]
rs9288368	0.83[AMR][1000 genomes]
rs975103	0.83[AMR][1000 genomes]
rs991689	0.83[AMR][1000 genomes]
rs9973667	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012780	chr2:206124954-206546271	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv10162	chr2:206272092-206525287	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv19770	chr2:206283097-206671319	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv2751840	chr2:206314671-206512921	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1007821	chr2:206333129-206465451	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv584245	chr2:206346410-206464465	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv1002333	chr2:206425470-206446775	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv519301	chr2:206425674-206445115	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv520393	chr2:206425674-206445115	Enhancers Weak transcription ZNF genes & repeats	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	chr2:206405000-206446600	Weak transcription	Ovary	ovary
2	chr2:206405600-206445000	Weak transcription	HSMMtube	muscle
3	chr2:206422400-206464600	Weak transcription	Aorta	Aorta
4	chr2:206431000-206441200	Weak transcription	Fetal Heart	heart
5	chr2:206434800-206449600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:206438200-206449400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:206439200-206441000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:206439400-206454200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:206439600-206445000	Weak transcription	NHEK	skin

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