Variant report

Variant	rs11719012
Chromosome Location	chr3:150418982-150418983
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Variant related genes	Relation type
ENSG00000240137	Chromatin interaction
ENSG00000120742	Chromatin interaction
ENSG00000163645	Chromatin interaction
ENSG00000144895	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1131685	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13063408	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13065451	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13068979	0.91[EUR][1000 genomes]
rs13074103	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13074670	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13079755	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13085974	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13086215	0.91[EUR][1000 genomes]
rs13086267	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13086869	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13090897	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17281287	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1897494	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2869477	0.87[EUR][1000 genomes]
rs4571271	0.90[EUR][1000 genomes]
rs5007703	0.91[EUR][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	nsv532662	chr3:150180747-150633414	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11719012	FAM194A	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150415800-150421000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:150416000-150420800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr3:150417400-150420800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr3:150417400-150420800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr3:150417400-150420800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr3:150417400-150420800	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr3:150417400-150421000	Weak transcription	HUVEC	blood vessel
8	chr3:150417400-150421000	Weak transcription	NHDF-Ad	bronchial
9	chr3:150417400-150421200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr3:150417600-150420800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr3:150417600-150421000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr3:150417800-150420600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr3:150417800-150420800	Weak transcription	A549	lung
14	chr3:150417800-150421000	Weak transcription	Hela-S3	cervix
15	chr3:150417800-150421000	Weak transcription	HMEC	breast
16	chr3:150417800-150421000	Weak transcription	NH-A	brain
17	chr3:150417800-150421000	Weak transcription	NHEK	skin
18	chr3:150417800-150421400	Weak transcription	K562	blood
19	chr3:150418000-150420800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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