Variant report

Variant	rs13382543
Chromosome Location	chr2:191035481-191035482
allele	C/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:12)

rs_ID	r²[population]
rs11688590	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11690677	0.80[ASN][1000 genomes]
rs11901445	0.88[CHD][hapmap];0.83[JPT][hapmap];0.80[ASN][1000 genomes]
rs13416537	0.84[ASN][1000 genomes]
rs13421006	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13426152	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13429506	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs58808199	0.80[ASN][1000 genomes]
rs6710331	0.89[CHD][hapmap];0.86[GIH][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs72913465	0.81[ASN][1000 genomes]
rs72913476	0.96[ASN][1000 genomes]
rs72913479	0.83[EUR][1000 genomes];0.98[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	esv3439178	chr2:190877215-191124499	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13382543	HIBCH	cis	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191024400-191042200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:191034000-191036200	Enhancers	Fetal Intestine Large	intestine
3	chr2:191034400-191036200	Enhancers	K562	blood
4	chr2:191034600-191036000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:191034600-191037800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:191034800-191037000	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr2:191035000-191035600	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr2:191035200-191037200	Weak transcription	Aorta	Aorta
9	chr2:191035400-191036600	Weak transcription	Small Intestine	intestine

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