Variant report

Variant	rs4753123
Chromosome Location	chr11:93808619-93808620
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11604580	0.81[AMR][1000 genomes]
rs12421996	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16919917	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16919942	0.83[AMR][1000 genomes]
rs4342991	0.81[AMR][1000 genomes]
rs4408267	0.83[AMR][1000 genomes]
rs4753124	0.83[AMR][1000 genomes]
rs72968710	0.82[EUR][1000 genomes]
rs72968720	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72968738	0.83[AMR][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	nsv898183	chr11:93725384-93906735	Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv898184	chr11:93741612-93969726	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4753123	HEPHL1	cis	Artery Aorta	GTEx
rs4753123	HEPHL1	cis	Artery Tibial	GTEx

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93794800-93816400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr11:93801800-93812800	Weak transcription	Aorta	Aorta
3	chr11:93802400-93833400	Weak transcription	HMEC	breast
4	chr11:93802600-93816600	Weak transcription	NHEK	skin
5	chr11:93807000-93810800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:93808400-93808800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr11:93808600-93810800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr11:93808600-93810800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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