Variant report

Variant	rs11687520
Chromosome Location	chr2:173926771-173926772
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12463612	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3754749	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61151985	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62175799	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6433392	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011724	chr2:173916482-174231908	Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv834460	chr2:173919464-174085288	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11687520	ZAK	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173915200-173929200	Weak transcription	Fetal Lung	lung
2	chr2:173916800-173927600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:173920600-173937200	Weak transcription	Psoas Muscle	Psoas
4	chr2:173923800-173928600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:173925200-173930400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:173925400-173928800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:173925600-173927600	Weak transcription	NHEK	skin
8	chr2:173925600-173927800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:173925800-173927800	Weak transcription	NHDF-Ad	bronchial
10	chr2:173926000-173927600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:173926000-173927800	Weak transcription	HMEC	breast
12	chr2:173926000-173928800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:173926200-173928000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr2:173926200-173928200	Weak transcription	Fetal Intestine Large	intestine
15	chr2:173926200-173928600	Weak transcription	HepG2	liver
16	chr2:173926200-173928800	Weak transcription	Liver	Liver
17	chr2:173926200-173930000	Weak transcription	Ovary	ovary
18	chr2:173926400-173927200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

Quick Search:

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

what's new

Quick links