Variant report

Variant	rs3020065
Chromosome Location	chr11:93059899-93059900
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:93055055..93056889-chr11:93058671..93061628,2	K562	blood:
2	chr11:93058763..93061728-chr11:93061851..93065338,6	K562	blood:

Variant related genes	Relation type
ENSG00000165325	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11600203	0.86[CHB][hapmap]
rs3019208	0.83[EUR][1000 genomes]
rs3019209	0.82[EUR][1000 genomes]
rs3019211	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3019212	0.82[MEX][hapmap];0.83[EUR][1000 genomes]
rs3019213	0.83[EUR][1000 genomes]
rs3020050	0.83[EUR][1000 genomes]
rs3020052	1.00[CHB][hapmap];0.81[JPT][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3020053	0.83[EUR][1000 genomes]
rs3020054	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3020061	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3020062	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3020064	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3020066	0.83[EUR][1000 genomes]
rs3020067	0.83[EUR][1000 genomes]
rs3020069	0.83[EUR][1000 genomes]
rs3133444	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3133454	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6483233	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7118644	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039134	chr11:92790000-93219942	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv438	chr11:93034411-93080513	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv898180	chr11:93045561-93082053	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs3020065	CCDC67	cis	Thyroid	GTEx
rs3020065	SLC36A4	cis	parietal	SCAN
rs3020065	CCDC67	cis	cerebellum	SCAN
rs3020065	MTNR1B	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93051200-93063000	Weak transcription	Pancreas	Pancrea
2	chr11:93057400-93063000	Weak transcription	K562	blood
3	chr11:93059600-93060200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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