Variant report

Variant	rs1375926
Chromosome Location	chr3:156048473-156048474
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]
rs10513486	0.93[CHB][hapmap];0.84[CHD][hapmap];0.81[ASN][1000 genomes]
rs12630004	0.93[CHB][hapmap];0.84[ASN][1000 genomes]
rs1375925	0.93[CHB][hapmap];0.84[CHD][hapmap]
rs1874952	0.93[CHB][hapmap];0.82[JPT][hapmap];0.87[ASN][1000 genomes]
rs2122419	0.93[CHB][hapmap];0.84[CHD][hapmap]
rs28413487	0.87[ASN][1000 genomes]
rs3755627	0.81[CHB][hapmap]
rs3772231	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs3772233	0.93[CHB][hapmap]
rs3772236	0.93[CHB][hapmap];0.85[ASN][1000 genomes]
rs3821415	0.81[CHB][hapmap]
rs4680258	0.93[CHB][hapmap];0.84[ASN][1000 genomes]
rs4680259	0.81[CHB][hapmap]
rs498033	0.91[GIH][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6795493	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs7653024	0.81[ASN][1000 genomes]
rs816550	0.82[AMR][1000 genomes]
rs9874261	0.81[CHB][hapmap]

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	nsv1014755	chr3:155889430-156411894	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv877682	chr3:156019961-156077514	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1375926	SHOX2	cis	cerebellum	SCAN

Chromatin state (count:0 , 50 per page) page:

No data

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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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