Variant report

Variant	rs12431815
Chromosome Location	chr14:40004891-40004892
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10047876	0.85[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10130181	0.85[CHD][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap]
rs10133746	1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[ASN][1000 genomes]
rs10136490	1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[ASN][1000 genomes]
rs10136915	0.83[ASN][1000 genomes]
rs10140997	0.86[CHD][hapmap]
rs10142029	0.82[JPT][hapmap]
rs10143148	0.86[ASN][1000 genomes]
rs10146106	0.82[JPT][hapmap]
rs10146622	0.86[CHD][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap]
rs12433987	0.82[JPT][hapmap];1.00[YRI][hapmap]
rs12434300	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17109168	0.85[CHD][hapmap];0.82[JPT][hapmap]
rs1955716	0.82[JPT][hapmap]
rs1998885	0.82[JPT][hapmap]
rs1998886	0.82[JPT][hapmap]
rs2415541	1.00[YRI][hapmap]
rs2899887	0.83[CHD][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap]
rs4902559	0.82[JPT][hapmap]
rs59804731	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62015674	0.83[ASN][1000 genomes]
rs62015677	0.83[ASN][1000 genomes]
rs62017271	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7156962	0.86[CHD][hapmap];0.82[JPT][hapmap]
rs7161482	0.83[ASN][1000 genomes]
rs72677701	0.88[ASN][1000 genomes]
rs8006076	0.85[CHD][hapmap];0.82[JPT][hapmap]
rs8007769	1.00[ASN][1000 genomes]
rs9322999	0.82[JPT][hapmap]
rs9805937	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3523177	chr14:39875036-40128325	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	esv3523178	chr14:39875036-40128325	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv832774	chr14:39897746-40060823	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv915558	chr14:39944831-40165370	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv456212	chr14:39957437-40096888	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv564418	chr14:39957437-40096888	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12431815	CTAGE5	cis	parietal	SCAN
rs12431815	FBXO33	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:40004000-40005600	Weak transcription	Ovary	ovary
2	chr14:40004200-40007000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr14:40004800-40006800	Weak transcription	Right Ventricle	heart

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