Variant report

Variant	rs34246481
Chromosome Location	chr7:124791283-124791284
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1020629	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.94[TSI][hapmap]
rs10256073	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs10266152	0.87[CHB][hapmap];0.86[CHD][hapmap];0.81[JPT][hapmap]
rs1031952	0.87[CHB][hapmap]
rs10500102	0.94[CHB][hapmap];0.89[CHD][hapmap];0.95[GIH][hapmap]
rs10954061	0.87[CHB][hapmap];0.86[CHD][hapmap];0.81[JPT][hapmap]
rs11761435	0.87[CHB][hapmap];0.86[CHD][hapmap]
rs11771004	0.85[CHB][hapmap]
rs11771079	1.00[CHB][hapmap]
rs1248737	0.93[CHB][hapmap]
rs12531213	0.83[ASN][1000 genomes]
rs12535063	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1357971	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1404897	0.87[CHB][hapmap];0.86[CHD][hapmap]
rs1454124	0.81[EUR][1000 genomes]
rs1471570	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs1525620	1.00[ASW][hapmap];0.91[CEU][hapmap];0.92[CHB][hapmap];0.89[CHD][hapmap];0.92[GIH][hapmap];0.92[JPT][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap]
rs1552116	0.94[CHB][hapmap];0.86[CHD][hapmap]
rs1552117	0.94[CHB][hapmap];0.86[CHD][hapmap]
rs17147889	0.87[CHB][hapmap];0.89[CHD][hapmap];0.92[GIH][hapmap]
rs28402853	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2929322	0.87[CHB][hapmap];0.86[CHD][hapmap]
rs590516	0.85[ASN][1000 genomes]
rs60486828	0.81[ASN][1000 genomes]
rs612391	0.93[CHB][hapmap]
rs625037	0.83[ASN][1000 genomes]
rs627823	0.93[CHB][hapmap]
rs6466995	0.81[ASN][1000 genomes]
rs650653	0.94[CHB][hapmap];0.86[CHD][hapmap]
rs651988	1.00[CHB][hapmap];0.93[CHD][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs659269	0.93[ASN][1000 genomes]
rs663056	0.94[CHB][hapmap]
rs664062	1.00[CHB][hapmap];0.96[CHD][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs6954295	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6965957	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs715937	0.81[ASN][1000 genomes]
rs73438500	0.81[EUR][1000 genomes]
rs7783242	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7794583	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7797011	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap]
rs7800299	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs792617	0.81[ASN][1000 genomes]
rs792637	0.81[ASN][1000 genomes]
rs967297	0.87[CHB][hapmap];0.86[CHD][hapmap];0.81[JPT][hapmap]
rs9785002	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9942625	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[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	nsv429809	chr7:123937674-124835925	Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	esv3394090	chr7:124602150-124900799	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv464708	chr7:124703756-124805279	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv608344	chr7:124703756-124805279	Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv831119	chr7:124714009-124890119	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	esv2422188	chr7:124782873-125254203	Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs34246481	CALU	cis	cerebellum	SCAN
rs34246481	POT1	cis	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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