Variant report

Variant	esv3368612
Chromosome Location	chr5:1661552-1664550
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 236 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:236 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199634065	chr5:1661564-1661565	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs386684447	chr5:1661581-1661582	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs112301396	chr5:1661582-1661583	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs904736	chr5:1661583-1661584	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs571040505	chr5:1661623-1661624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529920600	chr5:1661712-1661713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370710077	chr5:1661725-1661726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1875193	chr5:1661736-1661737	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs193030808	chr5:1661764-1661765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537181283	chr5:1661765-1661766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs72719246	chr5:1661770-1661771	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs71670013	chr5:1661797-1661798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371795297	chr5:1661806-1661807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11948318	chr5:1661812-1661813	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs561118703	chr5:1661813-1661814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184783830	chr5:1661866-1661867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372853348	chr5:1661932-1661933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376506906	chr5:1661995-1661996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs79586082	chr5:1662034-1662035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557572446	chr5:1662044-1662045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575727540	chr5:1662074-1662075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546300078	chr5:1662102-1662103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190037272	chr5:1662122-1662123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368559639	chr5:1662133-1662134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181247767	chr5:1662155-1662156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562062942	chr5:1662156-1662157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11952443	chr5:1662184-1662185	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs548174814	chr5:1662217-1662218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185420135	chr5:1662218-1662219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11954684	chr5:1662235-1662236	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs530588200	chr5:1662239-1662240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs386684448	chr5:1662251-1662252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11951713	chr5:1662253-1662254	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs188170079	chr5:1662258-1662259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143686563	chr5:1662261-1662262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567709066	chr5:1662284-1662285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs57015017	chr5:1662295-1662296	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs138331596	chr5:1662331-1662332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181969096	chr5:1662389-1662390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186301937	chr5:1662395-1662396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575810647	chr5:1662397-1662398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142922448	chr5:1662398-1662399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558235501	chr5:1662412-1662413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs116436536	chr5:1662418-1662419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs115739194	chr5:1662419-1662420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145122019	chr5:1662428-1662429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs72719248	chr5:1662429-1662430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542125709	chr5:1662443-1662444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs57743634	chr5:1662455-1662456	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs138979858	chr5:1662463-1662464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:113)

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	21509527	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
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:1658400-1662800	Weak transcription	Right Atrium	heart
2	chr5:1660600-1663000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:1661400-1661600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
4	chr5:1662800-1663000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:1662800-1663400	ZNF genes & repeats	Gastric	stomach
6	chr5:1662800-1663400	ZNF genes & repeats	Right Atrium	heart
7	chr5:1663000-1663200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:1663000-1663200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:1663200-1663400	Bivalent/Poised TSS	Hela-S3	cervix
10	chr5:1663200-1665200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr5:1663400-1666600	Weak transcription	Right Atrium	heart
12	chr5:1663400-1667000	Weak transcription	Gastric	stomach

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