Variant report

Variant	esv3373819
Chromosome Location	chr5:1955866-1956592
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:1955843..1957628-chr5:1960961..1962792,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62337105	chr5:1955902-1955903	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs199653040	chr5:1955913-1955914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7444895	chr5:1955924-1955925	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs77050561	chr5:1955930-1955931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186941447	chr5:1955933-1955934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs36019686	chr5:1955940-1955941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144813677	chr5:1955981-1955982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7448071	chr5:1956001-1956002	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs563915652	chr5:1956023-1956024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376668282	chr5:1956052-1956053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528840998	chr5:1956055-1956056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369995177	chr5:1956056-1956057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140593586	chr5:1956080-1956081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115860610	chr5:1956107-1956108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570049131	chr5:1956147-1956148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs386684505	chr5:1956166-1956167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377409451	chr5:1956174-1956175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551175313	chr5:1956177-1956178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370431764	chr5:1956190-1956191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192391401	chr5:1956191-1956192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191699475	chr5:1956219-1956220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112253954	chr5:1956245-1956246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539543057	chr5:1956254-1956255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376952158	chr5:1956292-1956293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs386684506	chr5:1956305-1956306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373234644	chr5:1956306-1956307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377235577	chr5:1956307-1956308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552861171	chr5:1956317-1956318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4975716	chr5:1956359-1956360	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs113915792	chr5:1956370-1956371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs55933082	chr5:1956373-1956374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200556476	chr5:1956389-1956390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574359909	chr5:1956390-1956391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs386684507	chr5:1956412-1956413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1906179	chr5:1956413-1956414	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs575337204	chr5:1956414-1956415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112507890	chr5:1956421-1956422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184333221	chr5:1956470-1956471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564160903	chr5:1956483-1956484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528101791	chr5:1956487-1956488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546591183	chr5:1956506-1956507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562395931	chr5:1956508-1956509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs193213928	chr5:1956521-1956522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112130283	chr5:1956534-1956535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113279486	chr5:1956537-1956538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114390811	chr5:1956538-1956539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs70960003	chr5:1956554-1956555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112506537	chr5:1956559-1956560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375722701	chr5:1956562-1956563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75069906	chr5:1956565-1956566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:112)

Disease	PMID	Source
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16608533	CNVD
Cervical cancer	16585170	CNVD
Glioblastoma multiforme	22286061	CNVD
Lung cancer	17925434	CNVD
Ovarian cancer	20844748	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	21829676	CNVD
Intracranial ependymoma	16609018	CNVD
Breast cancer	19181860	CNVD
prenatal diagnosis	20453657	CNVD
Developmental delay	19490664	CNVD
Human papillomavirus	17975027	CNVD
Acute monocytic leukemia	16498392	CNVD
Gastric cancer	16891809	CNVD
Intracranial aneurysm	16715129	CNVD
Emphysema	19352772	CNVD
Chordoma	18071362	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Lung cancer	21911935	CNVD
Cri-du chat syndrome	21549014	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
abnormal development	18461090	CNVD
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
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
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Oral cancer	22144094	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	17550852	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Developmental delay	21147756	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
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Schizophrenia	23813976	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:1939000-1965600	Weak transcription	Brain Angular Gyrus	brain
2	chr5:1949800-1960600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:1950600-1963800	Weak transcription	Right Ventricle	heart
4	chr5:1951800-1961400	Weak transcription	HMEC	breast
5	chr5:1952000-1960600	Weak transcription	Gastric	stomach
6	chr5:1952000-1960600	Weak transcription	Pancreas	Pancrea
7	chr5:1952200-1962000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:1952200-1962200	Weak transcription	NHEK	skin
9	chr5:1953200-1960600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr5:1953200-1960600	Weak transcription	Fetal Heart	heart
11	chr5:1953400-1960600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr5:1954000-1958200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr5:1954000-1960400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr5:1954000-1962600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr5:1954200-1958200	Weak transcription	Ovary	ovary
16	chr5:1955000-1965800	Weak transcription	Adipose Nuclei	Adipose
17	chr5:1955800-1960600	Weak transcription	Stomach Smooth Muscle	stomach

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