Variant report

Variant	rs12894318
Chromosome Location	chr14:81695186-81695187
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10131728	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12878339	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12878477	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12878503	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12879576	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12880377	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12880414	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12880512	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12883359	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12883532	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12888290	0.86[AMR][1000 genomes]
rs12891828	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12893436	1.00[ASN][1000 genomes]
rs12894001	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12895990	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17630746	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35446669	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4592586	0.91[EUR][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	nsv832841	chr14:81588322-81743921	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	86 gene(s)	inside rSNPs	diseases
2	nsv902118	chr14:81679650-81715989	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	84 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12894318	GTF2A1	cis	brain	BrainEAC

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81688200-81704800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:81688800-81700600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:81689400-81700600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

Quick Search:

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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