Variant report

Variant	rs10494944
Chromosome Location	chr1:212076921-212076922
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2788123	0.83[CHB][hapmap]
rs61828511	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61828523	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7540019	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	esv2762218	chr1:212046447-212087682	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10494944	INTS7	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212074400-212078400	Enhancers	Fetal Intestine Small	intestine
2	chr1:212074400-212078800	Enhancers	Fetal Intestine Large	intestine
3	chr1:212074600-212077200	ZNF genes & repeats	GM12878-XiMat	blood
4	chr1:212075600-212077000	Enhancers	Liver	Liver
5	chr1:212076200-212077000	Weak transcription	Colonic Mucosa	Colon
6	chr1:212076200-212077000	Weak transcription	HepG2	liver
7	chr1:212076200-212080000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:212076200-212080800	Weak transcription	Esophagus	oesophagus
9	chr1:212076200-212083600	Weak transcription	Pancreas	Pancrea
10	chr1:212076800-212077000	Flanking Active TSS	Duodenum Mucosa	Duodenum
11	chr1:212076800-212077000	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr1:212076800-212077200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum

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