Variant report

Variant	rs3019218
Chromosome Location	chr11:93076760-93076761
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:93071693..93075420-chr11:93075820..93077590,4	K562	blood:
2	chr11:93073470..93075711-chr11:93076090..93078058,3	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1004417	0.86[EUR][1000 genomes]
rs1456239	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1456242	0.92[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.92[MKK][hapmap];0.83[TSI][hapmap]
rs1598546	0.88[CEU][hapmap];0.87[LWK][hapmap];0.83[MEX][hapmap];0.88[MKK][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1598547	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1869913	0.85[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1960665	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1975819	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2124559	0.84[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.87[MEX][hapmap];0.88[MKK][hapmap];0.85[TSI][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2260769	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2605575	0.81[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs2605576	0.86[EUR][1000 genomes]
rs2605578	0.81[EUR][1000 genomes]
rs2658771	0.81[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs2658774	0.80[GIH][hapmap];0.86[EUR][1000 genomes]
rs2925353	0.86[EUR][1000 genomes]
rs2925359	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2925363	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3019203	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3019204	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3019219	0.92[CEU][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3019220	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3019227	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3019229	0.94[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.87[MEX][hapmap];0.94[MKK][hapmap];0.85[TSI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3019230	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3020070	0.85[EUR][1000 genomes]
rs3020071	0.81[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3020072	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3020075	0.81[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs3020080	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs975916	0.81[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][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	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
4	nsv468793	chr11:93068163-93129893	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3019218	CCDC67	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93064600-93081800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr11:93075800-93077400	Weak transcription	K562	blood
3	chr11:93076000-93077800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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