Variant report

Variant	rs12587790
Chromosome Location	chr14:37091126-37091127
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11621707	0.96[CEU][hapmap];0.81[CHB][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11627120	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11628029	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11846499	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12882923	0.96[CEU][hapmap];0.86[GIH][hapmap];0.83[JPT][hapmap];0.83[MEX][hapmap];0.90[TSI][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12883298	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12885529	0.82[AMR][1000 genomes]
rs12892031	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12893199	0.96[CEU][hapmap];0.83[JPT][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12897282	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12897452	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1569847	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1950362	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1955751	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1955752	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1983669	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1983670	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2073242	0.96[CEU][hapmap];0.88[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2207535	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2207536	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2224031	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2295219	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4899813	0.96[CEU][hapmap];0.81[CHB][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs5011317	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6571754	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6571758	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7142505	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7146835	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7149520	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7156439	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7157598	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7158341	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7158851	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7158930	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7159629	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8004187	0.96[CEU][hapmap];0.83[MEX][hapmap];0.88[TSI][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8004560	0.95[CEU][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8005670	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8008416	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8009118	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8010186	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs882231	0.96[CEU][hapmap];0.87[CHB][hapmap];0.98[GIH][hapmap];0.83[JPT][hapmap];0.87[MEX][hapmap];0.98[TSI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs882232	0.96[CEU][hapmap];0.98[GIH][hapmap];0.87[MEX][hapmap];0.98[TSI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs910506	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs910507	0.96[CEU][hapmap];0.81[CHB][hapmap];0.98[GIH][hapmap];0.87[JPT][hapmap];0.87[MEX][hapmap];0.98[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs910508	0.96[CEU][hapmap];0.81[CHB][hapmap];0.98[GIH][hapmap];0.83[JPT][hapmap];0.87[MEX][hapmap];0.98[TSI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040256	chr14:36501452-37172046	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv542040	chr14:36501452-37172046	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	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
4	nsv1037952	chr14:36670484-37294692	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv542042	chr14:36670484-37294692	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv1053685	chr14:36915643-37245920	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv917279	chr14:36953511-37146655	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv949612	chr14:36996206-37121633	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12587790	SEC23A	cis	cerebellum	SCAN

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

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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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