Variant report

Variant	rs7122752
Chromosome Location	chr11:56614663-56614664
allele	C/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	POLR2A	chr11:56614601-56614675	Gliobla	brain:	n/a	n/a
2	GATA2	chr11:56614477-56615278	SH-SY5Y	brain:	n/a	chr11:56614822-56614832
3	GATA3	chr11:56614647-56615050	SK-N-SH	brain:	n/a	chr11:56614822-56614832

Variant related genes	Relation type
ENSG00000255433	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10501358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17549606	0.91[CEU][hapmap]
rs17559037	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17559185	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17559600	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17640103	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55815178	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61889065	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61889069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61889071	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61889072	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61889073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61889075	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61889076	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61889078	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61889108	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61902501	0.82[EUR][1000 genomes]
rs61902503	0.82[EUR][1000 genomes]
rs61902504	0.82[EUR][1000 genomes]
rs61902517	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61902556	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61903997	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7107067	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7116073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[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	nsv1048328	chr11:56471984-56649908	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	esv2830406	chr11:56481955-56650124	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
3	nsv468577	chr11:56503728-56704042	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
4	nsv555101	chr11:56503728-56704042	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv469960	chr11:56605222-56704042	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs7122752	OR5B3	cis	parietal	SCAN
rs7122752	OR5R1	cis	parietal	SCAN
rs7122752	OR4D10	cis	cerebellum	SCAN
rs7122752	PRG3	cis	parietal	SCAN
rs7122752	OR5AS1	cis	cerebellum	SCAN
rs7122752	TPCN2	trans	cerebellum	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:56613200-56618400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr11:56613600-56614800	Enhancers	Lung	lung
3	chr11:56613600-56617800	Enhancers	HMEC	breast
4	chr11:56613800-56614800	Enhancers	NHEK	skin
5	chr11:56613800-56615000	Enhancers	A549	lung
6	chr11:56613800-56615200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr11:56614000-56615200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:56614000-56615200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr11:56614000-56615200	Enhancers	Fetal Kidney	kidney
10	chr11:56614400-56615200	Enhancers	Fetal Lung	lung
11	chr11:56614400-56621400	Weak transcription	Stomach Mucosa	stomach
12	chr11:56614600-56615000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr11:56614600-56616800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr11:56614600-56617000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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