Variant report

Variant	rs11745275
Chromosome Location	chr5:80580063-80580064
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:80579977..80582427-chr5:80582466..80585104,2	K562	blood:
2	chr5:80580034..80582470-chr5:80593982..80596791,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10514218	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10942946	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11739833	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11739834	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11740916	1.00[ASN][1000 genomes]
rs11743842	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11743849	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11749113	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11953113	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11957137	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12516089	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12517538	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12518716	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12523578	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16878594	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16878597	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56067803	1.00[ASN][1000 genomes]
rs56206535	0.82[AMR][1000 genomes]
rs62365025	0.86[EUR][1000 genomes]
rs62365031	1.00[ASN][1000 genomes]
rs62365032	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62365035	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62365038	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62365866	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62365867	1.00[ASN][1000 genomes]
rs72771170	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7731320	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv598750	chr5:80503528-80599578	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs11745275	CTC-281B15.1	cis	lung	GTEx
rs11745275	CTC-281B15.1	cis	Esophagus Mucosa	GTEx
rs11745275	CTC-281B15.1	cis	Thyroid	GTEx
rs11745275	CTC-281B15.1	cis	Adipose Subcutaneous	GTEx
rs11745275	CTC-281B15.1	cis	Esophagus Muscularis	GTEx
rs11745275	CTC-281B15.1	cis	Skin Sun Exposed Lower leg	GTEx
rs11745275	CTC-281B15.1	cis	Nerve Tibial	GTEx
rs11745275	CTC-281B15.1	cis	Artery Tibial	GTEx

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80565200-80580400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:80566200-80587800	Weak transcription	Ovary	ovary
3	chr5:80566400-80581400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:80566400-80587600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:80566800-80587600	Weak transcription	Right Ventricle	heart
6	chr5:80568000-80585600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr5:80570400-80587200	Weak transcription	Primary B cells from cord blood	blood
8	chr5:80571600-80583000	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr5:80572000-80595200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr5:80573800-80587400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:80574600-80585600	Weak transcription	Dnd41	blood
12	chr5:80577200-80586200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr5:80578000-80586800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr5:80578200-80582400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr5:80578200-80585200	Weak transcription	Fetal Intestine Large	intestine
16	chr5:80578200-80585600	Weak transcription	Left Ventricle	heart
17	chr5:80578800-80586600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr5:80578800-80595200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:80579000-80586800	Weak transcription	Psoas Muscle	Psoas
20	chr5:80579200-80582600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:80579400-80580200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
22	chr5:80579400-80583000	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr5:80579400-80583800	Weak transcription	Brain Hippocampus Middle	brain
24	chr5:80579800-80580200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr5:80579800-80580200	Enhancers	HepG2	liver
26	chr5:80579800-80587400	Weak transcription	Fetal Lung	lung
27	chr5:80579800-80587600	Weak transcription	Liver	Liver
28	chr5:80579800-80589000	Weak transcription	Fetal Heart	heart
29	chr5:80580000-80580800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr5:80580000-80582200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:80580000-80586800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr5:80580000-80587000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr5:80580000-80587600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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