Variant report

Variant	rs12986707
Chromosome Location	chr2:190471946-190471947
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1233302	1.00[YRI][hapmap]
rs12465298	0.81[AFR][1000 genomes]
rs13012833	1.00[YRI][hapmap]
rs13025114	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1437885	0.81[AFR][1000 genomes]
rs1898558	0.83[EUR][1000 genomes]
rs2099608	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6718734	0.81[AFR][1000 genomes]
rs7580851	0.92[CEU][hapmap];0.95[TSI][hapmap];0.91[EUR][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	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12986707	SLC40A1	cis	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190469600-190477600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr2:190470600-190473000	Enhancers	K562	blood
3	chr2:190470800-190477600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:190471200-190472400	Weak transcription	Stomach Mucosa	stomach
5	chr2:190471800-190474200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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