Variant report

Variant	rs6711743
Chromosome Location	chr2:30953300-30953301
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12052219	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs13414988	0.91[CHB][hapmap];0.83[JPT][hapmap];0.89[ASN][1000 genomes]
rs13428030	0.91[CHB][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs2280404	0.91[CHB][hapmap];0.88[CHD][hapmap];0.83[JPT][hapmap];0.81[TSI][hapmap];0.89[ASN][1000 genomes]
rs2593433	0.92[ASN][1000 genomes]
rs34079417	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35481680	0.84[AFR][1000 genomes]
rs6548029	0.88[ASN][1000 genomes]
rs6748488	0.91[ASN][1000 genomes]
rs9679326	0.91[CHB][hapmap];0.83[JPT][hapmap];0.89[ASN][1000 genomes]
rs9679386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv873770	chr2:30952987-30984850	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6711743	MRPL33	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30902400-30954000	Weak transcription	Gastric	stomach
2	chr2:30940600-30969600	Weak transcription	Stomach Mucosa	stomach
3	chr2:30945800-30955400	Weak transcription	Fetal Intestine Small	intestine
4	chr2:30950000-30954200	Weak transcription	Duodenum Mucosa	Duodenum
5	chr2:30951400-30954000	Strong transcription	Rectal Mucosa Donor 31	rectum
6	chr2:30953000-30953600	Strong transcription	Rectal Mucosa Donor 29	rectum
7	chr2:30953200-30954000	Strong transcription	Fetal Stomach	stomach

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