Variant report

Variant	rs712398
Chromosome Location	chr14:37385687-37385688
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10130699	0.80[CEU][hapmap];0.82[GIH][hapmap];0.81[EUR][1000 genomes]
rs10136303	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs1154126	0.81[CEU][hapmap]
rs1367032	0.90[CHB][hapmap];0.93[CHD][hapmap];0.86[JPT][hapmap]
rs2774042	0.89[ASW][hapmap];0.95[CEU][hapmap];0.90[CHB][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap]
rs712388	0.89[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.91[LWK][hapmap];0.95[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap]
rs712391	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs712392	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs712395	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs712399	0.82[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap]
rs712401	0.80[CEU][hapmap]
rs7148646	0.95[CEU][hapmap];0.82[CHD][hapmap];0.93[GIH][hapmap];0.80[MEX][hapmap];0.94[TSI][hapmap];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7159710	0.85[EUR][1000 genomes]
rs7160143	0.85[CEU][hapmap];0.84[GIH][hapmap];0.82[EUR][1000 genomes]
rs848691	1.00[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap]
rs848692	0.89[ASW][hapmap];0.95[CEU][hapmap];0.90[CHB][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap]
rs848694	0.81[EUR][1000 genomes]
rs848700	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.97[TSI][hapmap]
rs861926	0.90[CEU][hapmap]
rs911004	0.80[CHB][hapmap];0.85[JPT][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	nsv1047290	chr14:36564568-37445157	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
2	nsv534288	chr14:37254539-37697745	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs712398	SEC23A	cis	cerebellum	SCAN
rs712398	DNMT3B	trans	cerebellum	SCAN

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

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
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