Variant report

Variant	rs2350002
Chromosome Location	chr5:95638442-95638443
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11956194	0.83[ASN][1000 genomes]
rs12186664	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13162665	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13177227	0.80[ASN][1000 genomes]
rs13179048	0.89[ASN][1000 genomes]
rs17085593	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36101807	0.89[ASN][1000 genomes]
rs4869272	0.88[ASN][1000 genomes]
rs4869273	0.90[ASN][1000 genomes]
rs56198733	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73772319	0.82[AFR][1000 genomes]
rs73772331	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030444	chr5:95353620-95995619	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv537810	chr5:95353620-95995619	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv830410	chr5:95505799-95666310	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr5:95627000-95646000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr5:95627200-95646600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:95634000-95656400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr5:95636600-95639000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr5:95636600-95639200	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr5:95637800-95638600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr5:95637800-95652000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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