Variant report

Variant	rs10501590
Chromosome Location	chr11:84943077-84943078
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10792810	0.94[ASW][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.82[LWK][hapmap];0.90[YRI][hapmap]
rs1400630	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs1517308	0.94[ASW][hapmap];0.90[CHB][hapmap];0.86[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.84[LWK][hapmap];0.86[ASN][1000 genomes]
rs1517310	0.90[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs1517317	0.86[CHB][hapmap];0.83[CHD][hapmap];0.86[JPT][hapmap]
rs1914375	0.82[JPT][hapmap]
rs2000962	1.00[ASW][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.86[YRI][hapmap]
rs2203702	0.94[ASW][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.81[LWK][hapmap]
rs2449987	0.90[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs349077	0.81[CHB][hapmap]
rs471786	1.00[ASW][hapmap];0.90[CHB][hapmap];0.88[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.81[LWK][hapmap];0.89[ASN][1000 genomes]
rs472630	0.90[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs4944512	1.00[ASW][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.93[LWK][hapmap]
rs530323	0.84[ASW][hapmap];0.93[CHD][hapmap];0.82[JPT][hapmap];0.83[YRI][hapmap];0.83[ASN][1000 genomes]
rs552017	0.85[CHB][hapmap];0.88[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs552373	0.90[ASN][1000 genomes]
rs563788	0.88[ASN][1000 genomes]
rs580188	0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs601857	0.94[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.90[YRI][hapmap]
rs603170	0.81[CHB][hapmap]
rs660451	0.83[CHB][hapmap]
rs789600	0.85[ASN][1000 genomes]
rs7935720	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs938727	0.94[ASW][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.91[ASN][1000 genomes]
rs9734338	0.81[CHB][hapmap];0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044370	chr11:84748993-85293233	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv898042	chr11:84877221-84965437	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv898043	chr11:84895033-85148689	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv898044	chr11:84895033-85220773	ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10501590	CCDC83	cis	cerebellum	SCAN
rs10501590	CCDC83	cis	parietal	SCAN
rs10501590	TMEM126A	cis	parietal	SCAN

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

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
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