Variant report

Variant	rs4848941
Chromosome Location	chr2:125342637-125342638
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs12618619	0.81[CHB][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs1504019	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs1504020	0.81[CHB][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs4364025	0.83[CHD][hapmap];0.84[ASN][1000 genomes]
rs4592856	0.82[ASN][1000 genomes]
rs4848940	0.81[CHB][hapmap];0.83[CHD][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs4848944	0.81[CHB][hapmap];0.81[CHD][hapmap]
rs6713316	0.95[MEX][hapmap];0.84[TSI][hapmap];0.85[AMR][1000 genomes]
rs6744929	0.81[CHB][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs6757634	0.81[CHB][hapmap];0.83[CHD][hapmap];0.84[ASN][1000 genomes]
rs6757796	0.81[CHB][hapmap];0.83[CHD][hapmap];0.83[JPT][hapmap];0.84[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	nsv1014610	chr2:125124983-125350342	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv834357	chr2:125258157-125421507	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4848941	INHBB	cis	parietal	SCAN
rs4848941	AMMECR1L	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:125321600-125345200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:125339600-125342800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr2:125341400-125342800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:125342000-125344000	Enhancers	HepG2	liver
5	chr2:125342600-125343000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:125342600-125343000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr2:125342600-125343600	Enhancers	Fetal Intestine Large	intestine

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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

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