Variant report

Variant	rs7956721
Chromosome Location	chr12:40786280-40786281
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10784461	0.81[JPT][hapmap]
rs10784462	0.82[JPT][hapmap]
rs10784470	0.87[JPT][hapmap]
rs10784522	1.00[JPT][hapmap]
rs10784595	0.87[CHB][hapmap]
rs10784596	0.87[CHB][hapmap]
rs10878405	1.00[JPT][hapmap];0.85[MEX][hapmap]
rs10878551	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10878552	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11175769	0.82[JPT][hapmap]
rs11175784	0.88[JPT][hapmap]
rs11175845	0.88[JPT][hapmap]
rs11175847	0.88[JPT][hapmap]
rs11175862	0.88[JPT][hapmap]
rs11175911	0.88[JPT][hapmap]
rs11175922	0.88[JPT][hapmap]
rs11176030	1.00[JPT][hapmap]
rs11176274	0.80[AMR][1000 genomes]
rs11176495	0.87[CHB][hapmap]
rs11564148	1.00[JPT][hapmap]
rs11609433	0.80[AMR][1000 genomes]
rs11611510	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12146857	0.88[JPT][hapmap]
rs12367542	1.00[JPT][hapmap]
rs12369882	0.88[JPT][hapmap]
rs12820920	0.88[JPT][hapmap]
rs17443815	0.88[JPT][hapmap]
rs17444124	1.00[JPT][hapmap]
rs17444605	0.94[AFR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17519846	0.88[JPT][hapmap]
rs1820544	0.86[CHB][hapmap];0.80[GIH][hapmap]
rs2404840	0.83[CHB][hapmap]
rs3952596	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4293189	0.82[JPT][hapmap]
rs4768230	1.00[JPT][hapmap]
rs7137809	0.87[CHB][hapmap]
rs7302841	1.00[JPT][hapmap]
rs7308560	0.82[CHB][hapmap]
rs7309197	0.88[JPT][hapmap]
rs7310390	0.83[CHB][hapmap]
rs7312118	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7957367	1.00[CEU][hapmap]
rs7957754	0.88[JPT][hapmap]
rs7958987	0.89[AFR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7972535	0.86[CHB][hapmap]
rs7973058	1.00[JPT][hapmap]
rs7973479	0.82[JPT][hapmap]
rs994798	0.86[CHB][hapmap]

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	nsv832377	chr12:40704881-40855223	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv899032	chr12:40735939-40827479	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv558598	chr12:40742363-40828264	Strong transcription Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv899033	chr12:40758652-41122288	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1047639	chr12:40774370-40804386	Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7956721	SLC2A13	cis	cerebellum	SCAN
rs7956721	PDZRN4	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40785200-40786400	Enhancers	A549	lung

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