Variant report

Variant	rs2568030
Chromosome Location	chr11:8926205-8926206
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:8922687..8924837-chr11:8924953..8926686,2	K562	blood:
2	chr11:8925893..8928872-chr11:8930220..8933061,3	MCF-7	breast:
3	chr11:8903715..8906519-chr11:8925903..8928507,2	K562	blood:

Variant related genes	Relation type
ENSG00000166444	Chromatin interaction
ENSG00000166452	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10769982	0.89[AMR][1000 genomes]
rs10840149	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10840152	1.00[AMR][1000 genomes]
rs11042155	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1989143	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2195812	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2256067	0.92[YRI][hapmap];1.00[EUR][1000 genomes]
rs2262323	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2436178	1.00[EUR][1000 genomes]
rs2568021	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2568023	0.84[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2568024	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2568026	1.00[EUR][1000 genomes]
rs2568027	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2568036	0.90[AMR][1000 genomes]
rs2568041	1.00[EUR][1000 genomes]
rs2568051	0.84[YRI][hapmap]
rs2568055	0.92[YRI][hapmap];1.00[EUR][1000 genomes]
rs2568058	0.96[YRI][hapmap];1.00[EUR][1000 genomes]
rs2568060	0.96[YRI][hapmap];1.00[EUR][1000 genomes]
rs2568063	1.00[EUR][1000 genomes]
rs2568072	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2568083	0.84[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2653561	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2653563	0.87[ASW][hapmap];1.00[LWK][hapmap];0.86[MKK][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2653571	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2653583	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2653584	0.87[ASW][hapmap];0.92[LWK][hapmap];0.88[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2653585	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2653600	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2653608	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2653614	0.92[YRI][hapmap];1.00[EUR][1000 genomes]
rs2653615	0.96[YRI][hapmap];1.00[EUR][1000 genomes]
rs2742469	1.00[EUR][1000 genomes]
rs2742479	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2742482	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2742507	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2742508	0.86[ASW][hapmap];0.89[LWK][hapmap];0.92[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2742518	1.00[EUR][1000 genomes]
rs2742526	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2742527	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2742539	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2742543	0.92[YRI][hapmap];0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2742548	0.83[YRI][hapmap]
rs2742551	1.00[EUR][1000 genomes]
rs6416158	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6416159	0.87[ASW][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7104415	1.00[ASW][hapmap];0.80[LWK][hapmap];0.84[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7119887	0.87[ASW][hapmap];0.84[YRI][hapmap];0.90[AMR][1000 genomes]
rs73410028	1.00[EUR][1000 genomes]
rs73410031	1.00[EUR][1000 genomes]
rs73410040	1.00[EUR][1000 genomes]
rs7395934	1.00[ASW][hapmap];0.82[LWK][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7396042	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7396427	0.84[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7479998	1.00[EUR][1000 genomes]
rs7932678	1.00[EUR][1000 genomes]
rs7936297	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7950826	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]

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	esv2758256	chr11:8784813-9009573	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv2759803	chr11:8784813-9009573	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv435923	chr11:8839325-9000602	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv832062	chr11:8849295-9009472	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2568030	C11orf17	cis	lymphoblastoid	seeQTL

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8925200-8927400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr11:8926000-8927200	Enhancers	Hela-S3	cervix
3	chr11:8926000-8927200	Weak transcription	NHDF-Ad	bronchial
4	chr11:8926000-8929400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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