Variant report

Variant	rs17240706
Chromosome Location	chr15:58577535-58577536
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:58566466..58569601-chr15:58576243..58578947,3	K562	blood:
2	chr15:58566466..58568855-chr15:58576243..58578947,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10518969	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11635981	1.00[ASN][1000 genomes]
rs11854191	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11855606	1.00[ASN][1000 genomes]
rs17240720	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17821171	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28713674	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55657970	1.00[ASN][1000 genomes]
rs55797728	1.00[ASN][1000 genomes]
rs55800519	1.00[ASN][1000 genomes]
rs56004654	1.00[ASN][1000 genomes]
rs56080153	1.00[ASN][1000 genomes]
rs56192863	1.00[ASN][1000 genomes]
rs56403053	0.93[EUR][1000 genomes]
rs56403475	1.00[ASN][1000 genomes]
rs6493997	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7163446	1.00[ASN][1000 genomes]
rs7163729	1.00[ASN][1000 genomes]
rs7173426	1.00[CEU][hapmap];0.95[YRI][hapmap];0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72739128	1.00[ASN][1000 genomes]
rs72739142	1.00[ASN][1000 genomes]
rs72739145	1.00[ASN][1000 genomes]
rs73422370	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73422383	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047246	chr15:58375607-58707158	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv833024	chr15:58447459-58621963	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv904264	chr15:58505122-58588510	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv904265	chr15:58517528-58588510	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1051058	chr15:58519922-59092530	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv542401	chr15:58519922-59092530	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
7	nsv529717	chr15:58519923-58756814	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv1042201	chr15:58520746-58780710	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv569598	chr15:58552606-58852463	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv569599	chr15:58563209-58579956	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17240706	PAGE5	trans	lymphoblastoid	RTeQTL

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58564400-58582000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr15:58570800-58582200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr15:58574400-58580200	Enhancers	Fetal Thymus	thymus
4	chr15:58574800-58579000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr15:58576000-58577600	Flanking Active TSS	Liver	Liver
6	chr15:58576600-58578400	Enhancers	Fetal Intestine Large	intestine
7	chr15:58576600-58579800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr15:58576600-58580400	Enhancers	Thymus	Thymus
9	chr15:58576800-58578000	Enhancers	Pancreas	Pancrea
10	chr15:58576800-58579800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr15:58577000-58578000	Weak transcription	NHEK	skin
12	chr15:58577000-58578200	Weak transcription	HSMMtube	muscle
13	chr15:58577200-58578200	Enhancers	Fetal Intestine Small	intestine
14	chr15:58577200-58579400	Enhancers	Dnd41	blood
15	chr15:58577400-58578200	Flanking Active TSS	HepG2	liver

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