Variant report

Variant	rs56067803
Chromosome Location	chr5:80550526-80550527
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	chr5:80547726..80550284-chr5:80550387..80553255,3	K562	blood:
2	chr5:80546433..80550284-chr5:80550387..80553828,5	K562	blood:

Variant related genes	Relation type
ENSG00000131730	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 6 )

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

rs_ID	r²[population]
rs10942946	1.00[ASN][1000 genomes]
rs11740916	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11745275	1.00[ASN][1000 genomes]
rs12516089	1.00[ASN][1000 genomes]
rs12517538	1.00[ASN][1000 genomes]
rs12518716	1.00[ASN][1000 genomes]
rs16878594	1.00[ASN][1000 genomes]
rs16878597	1.00[ASN][1000 genomes]
rs62365028	0.91[AMR][1000 genomes]
rs62365031	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62365032	1.00[ASN][1000 genomes]
rs62365035	1.00[ASN][1000 genomes]
rs62365038	1.00[ASN][1000 genomes]
rs62365866	1.00[ASN][1000 genomes]
rs62365867	1.00[ASN][1000 genomes]
rs72771170	1.00[ASN][1000 genomes]
rs7731320	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:6)

SNP	Gene	Cis/trans	Tissue	Source
rs56067803	CTC-281B15.1	cis	lung	GTEx
rs56067803	CTC-281B15.1	cis	Thyroid	GTEx
rs56067803	CTC-281B15.1	cis	Artery Tibial	GTEx
rs56067803	CTC-281B15.1	cis	Esophagus Muscularis	GTEx
rs56067803	CTC-281B15.1	cis	Esophagus Mucosa	GTEx
rs56067803	CTC-281B15.1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80528000-80564400	Weak transcription	Hela-S3	cervix
2	chr5:80530800-80556400	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr5:80531200-80551200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr5:80531200-80556400	Weak transcription	Thymus	Thymus
5	chr5:80531200-80564200	Weak transcription	HepG2	liver
6	chr5:80531800-80555800	Weak transcription	Fetal Lung	lung
7	chr5:80532200-80551000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr5:80532200-80556800	Weak transcription	Dnd41	blood
9	chr5:80538400-80551400	Weak transcription	GM12878-XiMat	blood
10	chr5:80539000-80555200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr5:80541800-80550600	Weak transcription	Fetal Intestine Large	intestine
12	chr5:80541800-80564400	Weak transcription	A549	lung
13	chr5:80542200-80557000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr5:80543000-80554200	Weak transcription	Pancreas	Pancrea
15	chr5:80543800-80565600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr5:80544000-80557000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr5:80544000-80564200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr5:80544000-80564400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:80544200-80550800	Weak transcription	Osteobl	bone
20	chr5:80544200-80551000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr5:80544200-80551200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr5:80544200-80561400	Weak transcription	NHLF	lung
23	chr5:80544200-80564600	Weak transcription	HSMMtube	muscle
24	chr5:80544400-80550600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr5:80544400-80551400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr5:80545200-80550800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr5:80545200-80554400	Weak transcription	Ovary	ovary
28	chr5:80545200-80555400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr5:80545400-80565200	Weak transcription	Primary B cells from peripheral blood	blood
30	chr5:80545800-80564800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr5:80546200-80551200	Strong transcription	Fetal Stomach	stomach
32	chr5:80546200-80552000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr5:80546400-80551200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr5:80546600-80551200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr5:80546600-80552000	Weak transcription	Fetal Brain Female	brain
36	chr5:80546600-80552400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr5:80546600-80552800	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr5:80546600-80552800	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr5:80546600-80556800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr5:80546600-80564600	Weak transcription	Primary hematopoietic stem cells	blood
41	chr5:80547000-80551400	Strong transcription	Stomach Smooth Muscle	stomach
42	chr5:80547200-80550600	Strong transcription	Left Ventricle	heart
43	chr5:80547200-80553800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr5:80547600-80555600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr5:80547800-80551000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr5:80547800-80555400	Strong transcription	Aorta	Aorta
47	chr5:80548000-80551000	Strong transcription	Adipose Nuclei	Adipose
48	chr5:80548200-80555600	Strong transcription	Fetal Muscle Leg	muscle
49	chr5:80548200-80557600	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr5:80548200-80559400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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