Variant report

Variant	rs12313669
Chromosome Location	chr12:75064200-75064201
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12315155	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1493813	1.00[JPT][hapmap]
rs2605349	1.00[JPT][hapmap]
rs2641455	1.00[JPT][hapmap]
rs2641456	1.00[JPT][hapmap]
rs2661710	1.00[JPT][hapmap]
rs7314970	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs74107137	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7966481	0.82[YRI][hapmap]
rs7973277	1.00[CHB][hapmap]
rs7979897	0.88[YRI][hapmap]
rs903168	1.00[JPT][hapmap]
rs996431	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899297	chr12:75045728-75169675	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv899298	chr12:75045728-75173289	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv427915	chr12:75047293-75172692	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12313669	EEPD1	trans	lymphoblastoid	seeQTL
rs12313669	BHLHE41	trans	lymphoblastoid	seeQTL
rs12313669	TRIB2	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:75064000-75066000	Enhancers	Fetal Brain Male	brain

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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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