Variant report

Variant	rs12693461
Chromosome Location	chr2:187942514-187942515
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10497680	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs13432509	0.85[EUR][1000 genomes]
rs1386542	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17576288	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs17754185	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs2370738	0.87[EUR][1000 genomes]
rs3843326	0.90[LWK][hapmap]
rs3845716	0.90[LWK][hapmap];0.83[MEX][hapmap];0.81[MKK][hapmap]
rs6736303	0.90[LWK][hapmap];0.83[MEX][hapmap];0.81[MKK][hapmap]
rs72899302	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72905095	0.88[ASN][1000 genomes]
rs72906926	0.88[ASN][1000 genomes]
rs72906928	0.88[ASN][1000 genomes]
rs72906932	0.88[ASN][1000 genomes]
rs7575154	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949700	chr2:187713412-188361211	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv875553	chr2:187856937-188067355	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv875554	chr2:187873808-187964942	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv834486	chr2:187876328-188032965	Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv431857	chr2:187930023-188098798	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12693461	TMEM194B	cis	parietal	SCAN
rs12693461	HIBCH	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187940600-187943000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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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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