Variant report

Variant	esv3347149
Chromosome Location	chr8:54682108-54682472
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr8:54682162-54682191	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ATP6V1H	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146672678	chr8:54682115-54682116	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs369219111	chr8:54682116-54682117	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572959418	chr8:54682132-54682133	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545101310	chr8:54682144-54682145	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112038714	chr8:54682181-54682182	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs111507970	chr8:54682193-54682194	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149286493	chr8:54682194-54682195	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs143504845	chr8:54682195-54682196	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs551666236	chr8:54682221-54682222	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs57348174	chr8:54682258-54682259	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs575224776	chr8:54682278-54682279	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113474015	chr8:54682288-54682289	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs142433792	chr8:54682303-54682304	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs370578376	chr8:54682314-54682315	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552196320	chr8:54682318-54682319	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs564202217	chr8:54682331-54682332	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs199934417	chr8:54682360-54682361	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs3735831	chr8:54682426-54682427	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs74393216	chr8:54682461-54682462	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs111414889	chr8:54682465-54682466	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Uveal melanoma	20484589	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:140 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54650200-54707400	Weak transcription	HUVEC	blood vessel
2	chr8:54655400-54703600	Weak transcription	Brain Angular Gyrus	brain
3	chr8:54655800-54726000	Weak transcription	Colonic Mucosa	Colon
4	chr8:54667600-54685800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr8:54667800-54687400	Weak transcription	Spleen	Spleen
6	chr8:54667800-54726200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr8:54668000-54687400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr8:54668000-54703000	Weak transcription	Brain Substantia Nigra	brain
9	chr8:54669400-54687400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr8:54671200-54687000	Weak transcription	Fetal Brain Male	brain
11	chr8:54673000-54687400	Weak transcription	Small Intestine	intestine
12	chr8:54673200-54687400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr8:54673400-54683600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr8:54673400-54684000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:54673400-54687400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:54673400-54687600	Weak transcription	Esophagus	oesophagus
17	chr8:54673400-54687600	Weak transcription	Lung	lung
18	chr8:54673400-54698200	Weak transcription	Pancreas	Pancrea
19	chr8:54673400-54698400	Weak transcription	Gastric	stomach
20	chr8:54673400-54703000	Weak transcription	Left Ventricle	heart
21	chr8:54673400-54704000	Weak transcription	Right Ventricle	heart
22	chr8:54673600-54691200	Weak transcription	HepG2	liver
23	chr8:54675000-54682800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr8:54675200-54689000	Weak transcription	Fetal Heart	heart
25	chr8:54675400-54683600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr8:54676400-54683600	Weak transcription	Psoas Muscle	Psoas
27	chr8:54676600-54684000	Weak transcription	Ovary	ovary
28	chr8:54676600-54686800	Weak transcription	Brain Hippocampus Middle	brain
29	chr8:54676600-54702800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr8:54676600-54703200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr8:54676600-54703800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr8:54676800-54683200	Weak transcription	Stomach Smooth Muscle	stomach
33	chr8:54677200-54682200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr8:54677200-54682600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr8:54677200-54683200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr8:54677200-54686000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr8:54677400-54682200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr8:54677600-54687400	Weak transcription	Fetal Stomach	stomach
39	chr8:54677800-54683600	Weak transcription	Thymus	Thymus
40	chr8:54679200-54682200	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr8:54679200-54684200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr8:54679400-54685400	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr8:54679600-54682600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr8:54679600-54686000	Weak transcription	Fetal Intestine Small	intestine
45	chr8:54679800-54682200	Strong transcription	Fetal Lung	lung
46	chr8:54679800-54682400	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr8:54679800-54683800	ZNF genes & repeats	GM12878-XiMat	blood
48	chr8:54679800-54685200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr8:54679800-54686000	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr8:54680000-54682600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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