Variant report

Variant	rs2046349
Chromosome Location	chr4:125805222-125805223
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10518454	0.83[ASN][1000 genomes]
rs10518455	0.83[ASN][1000 genomes]
rs11726687	0.83[ASN][1000 genomes]
rs11733582	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1395325	0.82[AFR][1000 genomes]
rs1395327	0.82[AFR][1000 genomes]
rs17181767	0.83[ASN][1000 genomes]
rs17787244	0.83[ASN][1000 genomes]
rs59349224	0.83[ASN][1000 genomes]
rs62323303	0.91[ASN][1000 genomes]
rs6813536	0.85[EUR][1000 genomes]
rs6816885	0.87[ASN][1000 genomes]
rs6825198	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6843995	0.82[AFR][1000 genomes]
rs7662921	0.86[EUR][1000 genomes]
rs7680118	0.80[AFR][1000 genomes]
rs7695058	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011752	chr4:125708756-125932456	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1001338	chr4:125708756-126103293	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv830050	chr4:125717858-125888563	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv879884	chr4:125791252-125841892	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv879885	chr4:125791252-125852874	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv879886	chr4:125791252-125856465	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2046349	ANKRD50	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:125798200-125820800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:125804400-125806000	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr4:125804600-125806000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr4:125804800-125805600	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr4:125804800-125805600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:125804800-125806000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr4:125805200-125806000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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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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