Variant report

Variant	rs1493753
Chromosome Location	chr12:44797676-44797677
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10467198	0.80[AFR][1000 genomes]
rs11182485	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11182492	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11182494	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11182503	0.80[AFR][1000 genomes]
rs12304363	0.87[AFR][1000 genomes]
rs12308192	0.80[AFR][1000 genomes]
rs12310486	0.80[AFR][1000 genomes]
rs1493757	0.80[AFR][1000 genomes]
rs1726874	1.00[JPT][hapmap]
rs1798027	1.00[JPT][hapmap]
rs56009337	0.80[AFR][1000 genomes]
rs61334019	0.80[AFR][1000 genomes]
rs74087530	0.80[AFR][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	nsv1049818	chr12:44486312-45133783	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1038498	chr12:44679455-44816572	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44796600-44798000	Enhancers	Fetal Intestine Large	intestine
2	chr12:44796600-44798000	Enhancers	Fetal Intestine Small	intestine
3	chr12:44796600-44798800	Enhancers	Stomach Mucosa	stomach
4	chr12:44797400-44798800	Enhancers	HUES48 Cell Line	embryonic stem cell

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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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