Variant report

Variant	esv3381799
Chromosome Location	chr5:15850681-15850999
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 94 )

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	rs558475122	chr5:15850688-15850689	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs10061247	chr5:15850728-15850729	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs577341348	chr5:15850758-15850759	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs559316866	chr5:15850762-15850763	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs544794830	chr5:15850781-15850782	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs146147923	chr5:15850804-15850805	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575856515	chr5:15850817-15850818	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139030027	chr5:15850834-15850835	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374877544	chr5:15850880-15850881	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542077083	chr5:15850882-15850883	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149437378	chr5:15850930-15850931	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189079189	chr5:15850985-15850986	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	21364760	CNVD
Williams Syndrome	20824207	CNVD
Urothelial carcinoma	21177765	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Myoepithelioma	18604193	CNVD
Lung cancer	16740712	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:15842400-15853600	Weak transcription	Fetal Stomach	stomach
2	chr5:15845400-15850800	Weak transcription	Brain Anterior Caudate	brain
3	chr5:15849800-15854600	Enhancers	Fetal Heart	heart
4	chr5:15850400-15850800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr5:15850400-15850800	Enhancers	Brain Substantia Nigra	brain
6	chr5:15850400-15851000	Enhancers	Brain Angular Gyrus	brain
7	chr5:15850400-15851000	Enhancers	Brain Hippocampus Middle	brain
8	chr5:15850400-15851200	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr5:15850400-15851200	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr5:15850400-15851200	Enhancers	Psoas Muscle	Psoas
11	chr5:15850400-15851600	Flanking Active TSS	HUVEC	blood vessel
12	chr5:15850400-15852000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr5:15850400-15852200	Enhancers	Right Ventricle	heart
14	chr5:15850400-15853800	Enhancers	Adipose Nuclei	Adipose
15	chr5:15850600-15850800	Enhancers	Fetal Lung	lung
16	chr5:15850600-15850800	Enhancers	Right Atrium	heart
17	chr5:15850600-15851000	Enhancers	Brain Cingulate Gyrus	brain
18	chr5:15850600-15851200	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr5:15850600-15851200	Enhancers	Left Ventricle	heart
20	chr5:15850600-15851400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:15850600-15851400	Enhancers	Aorta	Aorta
22	chr5:15850800-15851000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:15850800-15851200	Enhancers	Gastric	stomach
24	chr5:15850800-15851200	Flanking Active TSS	Right Atrium	heart
25	chr5:15850800-15851400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr5:15850800-15851400	Flanking Active TSS	Brain Substantia Nigra	brain
27	chr5:15850800-15851400	Flanking Active TSS	Fetal Lung	lung
28	chr5:15850800-15851400	Enhancers	Ovary	ovary
29	chr5:15850800-15851800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr5:15850800-15851800	Enhancers	Brain Anterior Caudate	brain
31	chr5:15850800-15852600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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