Variant report

Variant	rs62359378
Chromosome Location	chr5:52414791-52414792
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10805445	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10940291	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17298242	0.86[ASN][1000 genomes]
rs17298431	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17298473	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1900182	0.84[ASN][1000 genomes]
rs2303124	0.86[ASN][1000 genomes]
rs62359377	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949005	chr5:52188028-52808229	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs62359378	CTD-2366F13.1	cis	Esophagus Muscularis	GTEx
rs62359378	CTD-2366F13.1	cis	Artery Aorta	GTEx
rs62359378	CTD-2366F13.1	cis	Stomach	GTEx

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52406400-52419000	Weak transcription	Left Ventricle	heart
2	chr5:52406800-52422000	Weak transcription	NHLF	lung
3	chr5:52406800-52422200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:52407000-52414800	Weak transcription	Pancreas	Pancrea
5	chr5:52407000-52418800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:52407000-52418800	Weak transcription	NHEK	skin
7	chr5:52407000-52419000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:52407200-52418800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:52410400-52421800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:52414000-52415200	Flanking Active TSS	K562	blood
11	chr5:52414000-52416000	Enhancers	Fetal Intestine Large	intestine
12	chr5:52414000-52416400	Enhancers	Fetal Intestine Small	intestine
13	chr5:52414600-52415000	Enhancers	Small Intestine	intestine
14	chr5:52414600-52415200	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr5:52414600-52415800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:52414600-52416400	Enhancers	Stomach Mucosa	stomach

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Input of quick search could be:

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

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