Variant report

Variant	rs12796618
Chromosome Location	chr11:4913885-4913886
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:4913860-4914010	HRE	kidney:	n/a	n/a
2	CTCF	chr11:4913800-4913950	NHDF-neo	bronchial:	n/a	n/a
3	CTCF	chr11:4913740-4913890	HAc	cerebellar:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:4912456..4914892-chr11:4916437..4919051,2	K562	blood:

Variant related genes	Relation type
OR51A6P	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10500625	0.83[CEU][hapmap]
rs10500626	0.83[CEU][hapmap];0.81[AMR][1000 genomes]
rs10500631	0.82[CEU][hapmap]
rs12788447	0.88[CEU][hapmap]
rs12793425	0.83[CEU][hapmap];1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12794894	0.83[CEU][hapmap]
rs12796015	0.83[CEU][hapmap];0.81[AMR][1000 genomes]
rs12799928	0.83[CEU][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12802922	0.83[CEU][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12804676	0.83[CEU][hapmap]
rs12806014	0.88[CEU][hapmap]
rs12806727	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1433899	0.81[CEU][hapmap]
rs17251220	0.83[CEU][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17251261	0.83[CEU][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17329242	0.83[CEU][hapmap];1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs17337601	0.81[AMR][1000 genomes]
rs17337649	0.83[CEU][hapmap];0.81[AMR][1000 genomes]
rs2412395	0.83[CEU][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34301246	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34583466	0.81[AMR][1000 genomes]
rs34742470	0.81[AMR][1000 genomes]
rs35408660	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35720831	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35918613	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4910691	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048224	chr11:4390227-4920324	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
2	nsv540917	chr11:4390227-4920324	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
3	nsv1054847	chr11:4642875-5200656	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
4	nsv467666	chr11:4815348-4917089	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv553184	chr11:4815348-4917089	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	esv2758254	chr11:4907893-5135331	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
7	esv2759799	chr11:4907893-5135331	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4912400-4914000	Enhancers	Muscle Satellite Cultured Cells	--
2	chr11:4913600-4914000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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