Variant report

Variant	rs7731320
Chromosome Location	chr5:80582859-80582860
allele	A/C
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:

Extended variants
information (count: 31 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10514218	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.86[TSI][hapmap];0.85[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10942946	1.00[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	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11740916	1.00[ASN][1000 genomes]
rs11743842	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11743849	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11745275	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11749113	1.00[CEU][hapmap];0.85[YRI][hapmap];0.86[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	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12517538	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12518716	0.81[AFR][1000 genomes];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];0.85[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16878597	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17294084	1.00[JPT][hapmap]
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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62365035	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62365038	0.92[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]
rs723046	1.00[JPT][hapmap]
rs72771170	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[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
rs7731320	CTC-281B15.1	cis	Artery Tibial	GTEx
rs7731320	CTC-281B15.1	cis	Esophagus Mucosa	GTEx
rs7731320	CTC-281B15.1	cis	Esophagus Muscularis	GTEx
rs7731320	CTC-281B15.1	cis	Adipose Subcutaneous	GTEx
rs7731320	CTC-281B15.1	cis	lung	GTEx
rs7731320	CTC-281B15.1	cis	Skin Sun Exposed Lower leg	GTEx
rs7731320	CTC-281B15.1	cis	Nerve Tibial	GTEx
rs7731320	CTC-281B15.1	cis	Thyroid	GTEx

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80566200-80587800	Weak transcription	Ovary	ovary
2	chr5:80566400-80587600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:80566800-80587600	Weak transcription	Right Ventricle	heart
4	chr5:80568000-80585600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr5:80570400-80587200	Weak transcription	Primary B cells from cord blood	blood
6	chr5:80571600-80583000	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr5:80572000-80595200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr5:80573800-80587400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:80574600-80585600	Weak transcription	Dnd41	blood
10	chr5:80577200-80586200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr5:80578000-80586800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr5:80578200-80585200	Weak transcription	Fetal Intestine Large	intestine
13	chr5:80578200-80585600	Weak transcription	Left Ventricle	heart
14	chr5:80578800-80586600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:80578800-80595200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:80579000-80586800	Weak transcription	Psoas Muscle	Psoas
17	chr5:80579400-80583000	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr5:80579400-80583800	Weak transcription	Brain Hippocampus Middle	brain
19	chr5:80579800-80587400	Weak transcription	Fetal Lung	lung
20	chr5:80579800-80587600	Weak transcription	Liver	Liver
21	chr5:80579800-80589000	Weak transcription	Fetal Heart	heart
22	chr5:80580000-80586800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr5:80580000-80587000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:80580000-80587600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr5:80580200-80586600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr5:80580800-80588000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr5:80581000-80587800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr5:80581200-80587600	Weak transcription	Primary T cells from cord blood	blood
29	chr5:80581400-80583400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr5:80581600-80587200	Weak transcription	Fetal Kidney	kidney
31	chr5:80581600-80595800	Weak transcription	Small Intestine	intestine
32	chr5:80581800-80588000	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr5:80582000-80585200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr5:80582400-80584200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr5:80582600-80584200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr5:80582600-80587800	Weak transcription	HepG2	liver
37	chr5:80582800-80583000	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr5:80582800-80583200	Enhancers	GM12878-XiMat	blood

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