Variant report

Variant	rs12466419
Chromosome Location	chr2:50061043-50061044
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10495988	0.85[JPT][hapmap]
rs11885824	0.81[JPT][hapmap]
rs12617277	0.81[JPT][hapmap]
rs12998798	0.90[JPT][hapmap]
rs13007882	0.81[JPT][hapmap]
rs13028383	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17039452	0.90[JPT][hapmap]
rs17039454	0.90[JPT][hapmap]
rs17039484	0.81[JPT][hapmap]
rs2241750	0.81[JPT][hapmap]
rs3922898	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3935314	0.91[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4143112	0.81[JPT][hapmap]
rs6758043	0.81[JPT][hapmap]
rs920033	0.81[JPT][hapmap]
rs920035	0.81[JPT][hapmap]

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	esv2762559	chr2:49986201-50076458	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12466419	KCNK12	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50057800-50062000	Enhancers	Fetal Heart	heart
2	chr2:50058800-50061600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:50060200-50061200	Weak transcription	hESC Derived CD56+ Mesoderm 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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