Variant report

Variant	rs62371265
Chromosome Location	chr5:17020283-17020284
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs62369703	0.86[EUR][1000 genomes]
rs62369704	0.86[EUR][1000 genomes]
rs62369706	0.86[EUR][1000 genomes]
rs62369707	0.86[EUR][1000 genomes]
rs62369708	0.83[EUR][1000 genomes]
rs62369733	0.86[EUR][1000 genomes]
rs62369734	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62369735	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62369736	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62369740	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62369741	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62369742	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62369743	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62369745	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62369746	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62369747	0.90[EUR][1000 genomes]
rs62369758	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62369759	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62371260	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62371264	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6871617	0.86[EUR][1000 genomes]
rs6878477	0.86[EUR][1000 genomes]
rs6893707	0.86[EUR][1000 genomes]
rs7713677	0.86[EUR][1000 genomes]
rs7718879	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7732353	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7733116	0.86[EUR][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	nsv1025225	chr5:16714512-17234866	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription 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 lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1015247	chr5:16748966-17133274	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv880277	chr5:16829442-17316288	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	esv3510797	chr5:16966764-17125849	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv3510798	chr5:16966764-17125849	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv1795984	chr5:16973769-17078295	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv1796588	chr5:17000364-17033610	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1017222	chr5:17001819-17133274	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1021972	chr5:17011758-17091878	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17013400-17020800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr5:17013400-17021200	Weak transcription	A549	lung
3	chr5:17017800-17025600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:17018200-17022400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:17018400-17020600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:17019400-17024800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:17019800-17020800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr5:17019800-17024800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:17019800-17024800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:17019800-17024800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr5:17020000-17020800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr5:17020000-17020800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr5:17020000-17021000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr5:17020000-17024800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:17020200-17020600	Weak transcription	Fetal Lung	lung
16	chr5:17020200-17020600	Weak transcription	NHEK	skin
17	chr5:17020200-17020600	Weak transcription	NHLF	lung

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