Variant report

Variant	rs17640103
Chromosome Location	chr11:56615078-56615079
allele	A/G
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	GATA2	chr11:56614477-56615278	SH-SY5Y	brain:	n/a	chr11:56614822-56614832
2	TCF12	chr11:56614909-56617181	A549	lung:	n/a	n/a
3	GATA3	chr11:56615063-56616287	A549	lung:	n/a	n/a
4	FOSL2	chr11:56615006-56617214	A549	lung:	n/a	n/a

Variant related genes	Relation type
ENSG00000255433	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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	0.92[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]
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]
rs7122752	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[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	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

No data

Chromatin state (count:13 , 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	chr11:56613600-56617800	Enhancers	HMEC	breast
3	chr11:56613800-56615200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr11:56614000-56615200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:56614000-56615200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr11:56614000-56615200	Enhancers	Fetal Kidney	kidney
7	chr11:56614400-56615200	Enhancers	Fetal Lung	lung
8	chr11:56614400-56621400	Weak transcription	Stomach Mucosa	stomach
9	chr11:56614600-56616800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr11:56614600-56617000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:56614800-56616400	Weak transcription	NHEK	skin
12	chr11:56615000-56615400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr11:56615000-56616800	Flanking Active TSS	A549	lung

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