Variant report

Variant	esv3442386
Chromosome Location	chr5:178345117-178345589
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528842155	chr5:178345187-178345188	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113811364	chr5:178345188-178345189	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565432368	chr5:178345201-178345202	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370723575	chr5:178345231-178345232	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374349848	chr5:178345243-178345244	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532896369	chr5:178345249-178345250	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552705588	chr5:178345275-178345276	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570978775	chr5:178345341-178345342	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148596067	chr5:178345388-178345389	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549571465	chr5:178345421-178345422	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs62395085	chr5:178345462-178345463	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs117408519	chr5:178345472-178345473	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178335600-178349000	ZNF genes & repeats	Liver	Liver
2	chr5:178335800-178367000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
3	chr5:178340400-178345400	Weak transcription	Placenta	Placenta
4	chr5:178341600-178345800	ZNF genes & repeats	Fetal Lung	lung
5	chr5:178341600-178345800	ZNF genes & repeats	Ovary	ovary
6	chr5:178341600-178347000	ZNF genes & repeats	Adipose Nuclei	Adipose
7	chr5:178341600-178347200	ZNF genes & repeats	Stomach Smooth Muscle	stomach
8	chr5:178341600-178367000	ZNF genes & repeats	Fetal Brain Female	brain
9	chr5:178342000-178348200	Weak transcription	Right Ventricle	heart
10	chr5:178342800-178346000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:178343000-178346000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
12	chr5:178343000-178367200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
13	chr5:178343400-178345600	Weak transcription	Psoas Muscle	Psoas
14	chr5:178343800-178345200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr5:178343800-178345400	Weak transcription	Brain Germinal Matrix	brain
16	chr5:178343800-178345400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr5:178343800-178345400	Weak transcription	Left Ventricle	heart
18	chr5:178343800-178348000	Weak transcription	Brain Angular Gyrus	brain
19	chr5:178344800-178345600	ZNF genes & repeats	Aorta	Aorta
20	chr5:178344800-178345600	ZNF genes & repeats	Brain Anterior Caudate	brain
21	chr5:178344800-178345600	ZNF genes & repeats	Fetal Brain Male	brain
22	chr5:178344800-178345600	ZNF genes & repeats	Fetal Stomach	stomach
23	chr5:178344800-178345800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
24	chr5:178344800-178346000	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
25	chr5:178344800-178346400	Strong transcription	Brain Substantia Nigra	brain
26	chr5:178345000-178345400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
27	chr5:178345000-178345600	ZNF genes & repeats	Brain Hippocampus Middle	brain
28	chr5:178345000-178345600	ZNF genes & repeats	Fetal Kidney	kidney
29	chr5:178345000-178346600	Weak transcription	Colon Smooth Muscle	Colon
30	chr5:178345200-178345600	Strong transcription	Skeletal Muscle Female	skeletal muscle
31	chr5:178345400-178345600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr5:178345400-178345600	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
33	chr5:178345400-178345600	ZNF genes & repeats	Placenta	Placenta
34	chr5:178345400-178346000	ZNF genes & repeats	Left Ventricle	heart
35	chr5:178345400-178346200	ZNF genes & repeats	Brain Germinal Matrix	brain
36	chr5:178345400-178347200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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