Variant report

Variant	rs10497705
Chromosome Location	chr2:190492014-190492015
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs6434355	0.87[ASN][1000 genomes]
rs6756040	0.87[ASN][1000 genomes]
rs6756657	0.87[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	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs10497705	ORMDL1	cis	lymphoblastoid	seeQTL
rs10497705	LOC51240	cis	multi-tissue	Pritchard
rs10497705	ORMDL1	cis	Lymphoblastoid	GTEx
rs10497705	ORMDL1	cis	multi-tissue	Pritchard
rs10497705	TMEM194B	cis	cerebellum	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190479000-190503800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:190484400-190493800	Weak transcription	A549	lung
3	chr2:190484600-190494400	Weak transcription	HUVEC	blood vessel
4	chr2:190486200-190494400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:190487400-190494000	Weak transcription	Stomach Mucosa	stomach
6	chr2:190488200-190494000	Weak transcription	Ovary	ovary
7	chr2:190489600-190494200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:190489600-190494200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr2:190489800-190493600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:190489800-190494200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr2:190490200-190494000	Weak transcription	Hela-S3	cervix
12	chr2:190490800-190493800	Weak transcription	K562	blood
13	chr2:190491000-190493800	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