Variant report

Variant	rs2653562
Chromosome Location	chr11:8918160-8918161
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:8917440..8919226-chr11:8930206..8932089,2	K562	blood:

Variant related genes	Relation type
ENSG00000166444	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10219366	0.80[EUR][1000 genomes]
rs10769976	0.81[EUR][1000 genomes]
rs10840156	0.81[EUR][1000 genomes]
rs12798311	0.85[EUR][1000 genomes]
rs2016844	0.84[EUR][1000 genomes]
rs2056903	0.84[EUR][1000 genomes]
rs2246878	0.84[EUR][1000 genomes]
rs2247038	0.84[EUR][1000 genomes]
rs2568034	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2568042	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2568074	0.84[EUR][1000 genomes]
rs2568075	0.84[EUR][1000 genomes]
rs2568077	0.84[EUR][1000 genomes]
rs2568079	0.82[EUR][1000 genomes]
rs2568086	0.80[EUR][1000 genomes]
rs2653556	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2653560	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2653565	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2653601	0.84[EUR][1000 genomes]
rs2653611	0.82[EUR][1000 genomes]
rs2742495	0.81[EUR][1000 genomes]
rs2742496	0.81[EUR][1000 genomes]
rs2742497	0.82[EUR][1000 genomes]
rs2742504	0.82[EUR][1000 genomes]
rs2742505	0.82[EUR][1000 genomes]
rs2742512	0.84[EUR][1000 genomes]
rs2742513	0.84[EUR][1000 genomes]
rs2742520	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2742521	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3751063	0.81[EUR][1000 genomes]
rs4909951	0.81[EUR][1000 genomes]
rs7106539	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs909464	0.84[EUR][1000 genomes]
rs9300096	0.81[EUR][1000 genomes]
rs982273	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2653562	C11orf17	Cis_1M	lymphoblastoid	RTeQTL
rs2653562	C11orf17	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8918000-8926000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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