Variant report

Variant	rs712388
Chromosome Location	chr14:37375207-37375208
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10130699	0.85[CEU][hapmap];0.82[GIH][hapmap];0.80[EUR][1000 genomes]
rs10136303	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs1154126	0.89[ASW][hapmap]
rs1367032	0.90[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap]
rs17105663	0.88[YRI][hapmap]
rs2774042	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.85[LWK][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.89[YRI][hapmap]
rs712391	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs712392	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs712395	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs712398	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]
rs712399	0.81[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.85[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap]
rs712401	0.85[CEU][hapmap]
rs7148646	1.00[CEU][hapmap];0.93[GIH][hapmap];0.94[TSI][hapmap];0.96[EUR][1000 genomes]
rs7159710	0.83[EUR][1000 genomes]
rs7160143	0.90[CEU][hapmap];0.84[GIH][hapmap];0.81[EUR][1000 genomes]
rs848691	0.95[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.89[YRI][hapmap]
rs848692	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.80[YRI][hapmap]
rs848694	0.85[CEU][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs848700	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.93[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap]
rs861926	0.85[CEU][hapmap]
rs911004	0.80[CHB][hapmap];0.90[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs712388	SEC23A	cis	cerebellum	SCAN

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

No data

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