Variant report

Variant	rs62365025
Chromosome Location	chr5:80542615-80542616
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:80533844..80536662-chr5:80539256..80543290,4	K562	blood:
2	chr5:80540741..80543266-chr5:80561744..80563838,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10942946	0.82[EUR][1000 genomes]
rs11745275	0.86[EUR][1000 genomes]
rs11749113	0.92[EUR][1000 genomes]
rs11953113	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11957137	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12516089	0.83[EUR][1000 genomes]
rs12517538	0.84[EUR][1000 genomes]
rs12518716	0.86[EUR][1000 genomes]
rs12523578	0.81[EUR][1000 genomes]
rs16878594	0.84[EUR][1000 genomes]
rs16878597	0.83[EUR][1000 genomes]
rs2291941	0.89[ASN][1000 genomes]
rs62365032	0.84[EUR][1000 genomes]
rs62365035	0.84[EUR][1000 genomes]
rs62365038	0.83[EUR][1000 genomes]
rs72771170	0.85[EUR][1000 genomes]
rs7731320	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	esv2763877	chr5:80535750-80545341	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs62365025	CTC-281B15.1	cis	Adipose Subcutaneous	GTEx
rs62365025	CTC-281B15.1	cis	lung	GTEx
rs62365025	CTC-281B15.1	cis	Esophagus Mucosa	GTEx
rs62365025	CTC-281B15.1	cis	Thyroid	GTEx
rs62365025	CTC-281B15.1	cis	Artery Tibial	GTEx
rs62365025	CTC-281B15.1	cis	Nerve Tibial	GTEx
rs62365025	CTC-281B15.1	cis	Esophagus Muscularis	GTEx
rs62365025	CTC-281B15.1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80527000-80546200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr5:80528000-80564400	Weak transcription	Hela-S3	cervix
3	chr5:80529400-80543400	Weak transcription	NHLF	lung
4	chr5:80529400-80544200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr5:80529400-80549400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr5:80529600-80542800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:80529600-80545800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:80530000-80546400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr5:80530200-80544000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr5:80530600-80542800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr5:80530600-80543000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr5:80530600-80543800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr5:80530600-80544000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr5:80530800-80556400	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr5:80531200-80551200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr5:80531200-80556400	Weak transcription	Thymus	Thymus
17	chr5:80531200-80564200	Weak transcription	HepG2	liver
18	chr5:80531600-80542800	Weak transcription	Brain Germinal Matrix	brain
19	chr5:80531800-80543400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr5:80531800-80555800	Weak transcription	Fetal Lung	lung
21	chr5:80532000-80548400	Weak transcription	Lung	lung
22	chr5:80532200-80548400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr5:80532200-80551000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr5:80532200-80556800	Weak transcription	Dnd41	blood
25	chr5:80532600-80545200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:80536200-80547800	Weak transcription	Spleen	Spleen
27	chr5:80536200-80548600	Weak transcription	Fetal Intestine Small	intestine
28	chr5:80537800-80545400	Genic enhancers	Left Ventricle	heart
29	chr5:80538400-80542800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr5:80538400-80545000	Enhancers	Brain Cingulate Gyrus	brain
31	chr5:80538400-80551400	Weak transcription	GM12878-XiMat	blood
32	chr5:80538800-80544800	Enhancers	Brain Hippocampus Middle	brain
33	chr5:80539000-80555200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr5:80539200-80545200	Enhancers	Brain Substantia Nigra	brain
35	chr5:80539200-80548400	Weak transcription	Gastric	stomach
36	chr5:80539400-80543800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr5:80540000-80544200	Enhancers	HSMMtube	muscle
38	chr5:80540200-80545400	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr5:80540400-80544200	Enhancers	Stomach Mucosa	stomach
40	chr5:80540400-80544600	Enhancers	Brain Angular Gyrus	brain
41	chr5:80540800-80542800	Enhancers	Esophagus	oesophagus
42	chr5:80540800-80543800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr5:80540800-80544000	Enhancers	Placenta Amnion	Placenta Amnion
44	chr5:80540800-80545400	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr5:80541000-80543600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr5:80541000-80544800	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr5:80541200-80544200	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr5:80541200-80544200	Enhancers	HMEC	breast
49	chr5:80541200-80544400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr5:80541200-80544400	Enhancers	Brain Anterior Caudate	brain

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