Variant report

Variant	rs72809763
Chromosome Location	chr5:179133087-179133088
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr5:179133065-179133215	K562	blood:	n/a	n/a
2	POLR2A	chr5:179131832-179133273	K562	blood:	n/a	n/a
3	POLR2A	chr5:179132608-179133184	K562	blood:	n/a	n/a
4	POLR2A	chr5:179130323-179133333	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr5:179131483-179133382	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr5:179132618-179133314	HepG2	liver:	n/a	n/a
7	POLR2A	chr5:179132561-179133114	HepG2	liver:	n/a	n/a
8	POLR2A	chr5:179132478-179133201	PANC-1	pancreas:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:179048674..179050755-chr5:179131427..179133888,2	MCF-7	breast:
2	chr5:179130512..179134437-chr5:179159497..179161438,3	MCF-7	breast:
3	chr5:179130815..179133473-chr5:179133659..179136452,3	MCF-7	breast:
4	chr5:179123586..179129079-chr5:179129217..179136579,19	MCF-7	breast:
5	chr5:179131963..179134145-chr5:179158329..179159855,2	K562	blood:

No data

Variant related genes	Relation type
CANX	TF binding region
ENSG00000127022	Chromatin interaction
ENSG00000169045	Chromatin interaction
ENSG00000161021	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10050544	0.82[EUR][1000 genomes]
rs10064170	0.82[EUR][1000 genomes]
rs55800082	0.94[EUR][1000 genomes]
rs55815501	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55915939	0.94[EUR][1000 genomes]
rs55952102	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55967209	0.94[EUR][1000 genomes]
rs56093222	0.94[EUR][1000 genomes]
rs60485189	0.94[EUR][1000 genomes]
rs60716268	0.94[EUR][1000 genomes]
rs66465242	0.85[EUR][1000 genomes]
rs66685266	0.94[EUR][1000 genomes]
rs66686562	0.94[EUR][1000 genomes]
rs67211456	0.94[EUR][1000 genomes]
rs67637906	0.94[EUR][1000 genomes]
rs67832593	0.83[EUR][1000 genomes]
rs67879510	0.94[EUR][1000 genomes]
rs67952129	0.94[EUR][1000 genomes]
rs6865507	0.94[EUR][1000 genomes]
rs6866388	0.82[EUR][1000 genomes]
rs72807319	0.94[EUR][1000 genomes]
rs72807328	0.94[EUR][1000 genomes]
rs72807332	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72807337	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72809769	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72809771	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72809773	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72809775	0.94[EUR][1000 genomes]
rs72809781	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72809782	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72809783	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72809785	0.94[EUR][1000 genomes]
rs72809787	0.94[EUR][1000 genomes]
rs72809790	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72809792	0.94[EUR][1000 genomes]
rs72809794	0.94[EUR][1000 genomes]
rs72809795	0.94[EUR][1000 genomes]
rs72809796	0.94[EUR][1000 genomes]
rs72809798	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72809802	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7721256	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949554	chr5:178832325-179309513	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
2	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
3	nsv830560	chr5:179039212-179175758	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
4	nsv531997	chr5:179107599-179588082	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	339 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179127400-179137800	Weak transcription	Aorta	Aorta
2	chr5:179127800-179133200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr5:179127800-179133200	Weak transcription	Brain Anterior Caudate	brain
4	chr5:179127800-179133200	Weak transcription	Fetal Brain Female	brain
5	chr5:179127800-179133400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr5:179127800-179133600	Weak transcription	Brain Angular Gyrus	brain
7	chr5:179127800-179133600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr5:179127800-179133600	Weak transcription	Brain Substantia Nigra	brain
9	chr5:179127800-179133600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr5:179127800-179133800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr5:179127800-179133800	Weak transcription	Colonic Mucosa	Colon
12	chr5:179127800-179134000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr5:179127800-179134600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr5:179127800-179136000	Weak transcription	HSMMtube	muscle
15	chr5:179127800-179152000	Strong transcription	NHEK	skin
16	chr5:179127800-179156400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr5:179127800-179156600	Strong transcription	Fetal Stomach	stomach
18	chr5:179127800-179158200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:179128000-179135000	Weak transcription	Esophagus	oesophagus
20	chr5:179128200-179156400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr5:179128400-179133200	Weak transcription	Gastric	stomach
22	chr5:179128400-179143200	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr5:179128400-179157800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr5:179128400-179157800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr5:179128400-179158200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr5:179128400-179159200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:179128600-179133200	Weak transcription	Primary B cells from cord blood	blood
28	chr5:179128600-179133600	Weak transcription	Brain Hippocampus Middle	brain
29	chr5:179128600-179150400	Weak transcription	Stomach Mucosa	stomach
30	chr5:179128600-179158200	Strong transcription	Fetal Muscle Leg	muscle
31	chr5:179129000-179158200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr5:179129200-179133200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr5:179129200-179133800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr5:179129200-179146800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr5:179129200-179157600	Strong transcription	Fetal Muscle Trunk	muscle
36	chr5:179129400-179134800	Weak transcription	Ovary	ovary
37	chr5:179129400-179136600	Weak transcription	Small Intestine	intestine
38	chr5:179129400-179141400	Strong transcription	Hela-S3	cervix
39	chr5:179129400-179143200	Weak transcription	Fetal Brain Male	brain
40	chr5:179129400-179152600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr5:179129400-179158200	Strong transcription	Fetal Thymus	thymus
42	chr5:179129600-179133600	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr5:179129600-179157400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr5:179129800-179135200	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr5:179129800-179143000	Weak transcription	Fetal Heart	heart
46	chr5:179129800-179158200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr5:179129800-179158200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr5:179129800-179158200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr5:179129800-179158200	Strong transcription	Fetal Intestine Large	intestine
50	chr5:179129800-179158800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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