Variant report

Variant	esv3450217
Chromosome Location	chr5:1924460-1926436
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:1922868..1925557-chr5:1925659..1927215,2	MCF-7	breast:
2	chr5:1923560..1925350-chr5:1937042..1939475,2	MCF-7	breast:
3	chr5:1920038..1922611-chr5:1924901..1927373,2	MCF-7	breast:
4	chr5:1922868..1925557-chr5:1925659..1927215,2	MCF-7	breast:
5	chr5:1923598..1926065-chr5:2006441..2007973,2	K562	blood:

Extended variants
information (count: 78 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551167517	chr5:1924496-1924497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs72706744	chr5:1924522-1924523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533487184	chr5:1924523-1924524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551865707	chr5:1924541-1924542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4975766	chr5:1924549-1924550	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs549893983	chr5:1924581-1924582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144720927	chr5:1924591-1924592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534180338	chr5:1924592-1924593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553031743	chr5:1924593-1924594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568353367	chr5:1924828-1924829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140621942	chr5:1924970-1924971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552546023	chr5:1925011-1925012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10036227	chr5:1925013-1925014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571133667	chr5:1925041-1925042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537043190	chr5:1925044-1925045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540735595	chr5:1925193-1925194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113032132	chr5:1925201-1925202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111316690	chr5:1925202-1925203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs4478361	chr5:1925303-1925304	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs575058483	chr5:1925322-1925323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539179061	chr5:1925329-1925330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557408340	chr5:1925331-1925332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552996515	chr5:1925346-1925347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192383075	chr5:1925355-1925356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574571042	chr5:1925379-1925380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568023067	chr5:1925383-1925384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574278287	chr5:1925391-1925392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544551599	chr5:1925402-1925403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563092691	chr5:1925431-1925432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532047544	chr5:1925492-1925493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184877195	chr5:1925505-1925506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551950064	chr5:1925508-1925509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560559087	chr5:1925519-1925520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6890530	chr5:1925537-1925538	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs189253607	chr5:1925544-1925545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192063712	chr5:1925562-1925563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147470088	chr5:1925564-1925565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550583898	chr5:1925585-1925586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568737550	chr5:1925596-1925597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539247224	chr5:1925647-1925648	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs557446381	chr5:1925666-1925667	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs557473682	chr5:1925748-1925749	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs373457703	chr5:1925757-1925758	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs572615752	chr5:1925784-1925785	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs529429588	chr5:1925797-1925798	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs533608897	chr5:1925799-1925800	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs555363091	chr5:1925801-1925802	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs573523337	chr5:1925807-1925808	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs139302717	chr5:1925808-1925809	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs563154729	chr5:1925920-1925921	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:1924200-1928000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:1924400-1925600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:1925600-1926400	ZNF genes & repeats	Right Atrium	heart
4	chr5:1925600-1927600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:1925800-1926400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr5:1926000-1926200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr5:1926200-1929200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr5:1926400-1929200	Weak transcription	Right Atrium	heart

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