Variant report

Variant	esv3439836
Chromosome Location	chr5:1923477-1926525
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:1918788..1920999-chr5:1921103..1923606,2	K562	blood:
2	chr5:1920038..1922611-chr5:1924901..1927373,2	MCF-7	breast:
3	chr5:1923598..1926065-chr5:2006441..2007973,2	K562	blood:
4	chr5:1922868..1925557-chr5:1925659..1927215,2	MCF-7	breast:
5	chr5:1914837..1916818-chr5:1921898..1924195,2	K562	blood:
6	chr5:1922868..1925557-chr5:1925659..1927215,2	MCF-7	breast:
7	chr5:1923560..1925350-chr5:1937042..1939475,2	MCF-7	breast:

Extended variants
information (count: 135 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114494849	chr5:1923490-1923491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs141084897	chr5:1923520-1923521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559548225	chr5:1923546-1923547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182707154	chr5:1923547-1923548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs6865197	chr5:1923557-1923558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112827491	chr5:1923585-1923586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139022814	chr5:1923600-1923601	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs188182238	chr5:1923615-1923616	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs570799382	chr5:1923628-1923629	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs367722287	chr5:1923644-1923645	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs534943264	chr5:1923654-1923655	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs546790400	chr5:1923668-1923669	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs111464544	chr5:1923672-1923673	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs542410241	chr5:1923676-1923677	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs535590853	chr5:1923679-1923680	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs560954345	chr5:1923706-1923707	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs557413672	chr5:1923709-1923710	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs144606096	chr5:1923722-1923723	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs138588439	chr5:1923725-1923726	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs558936397	chr5:1923743-1923744	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs115160305	chr5:1923745-1923746	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs531622197	chr5:1923783-1923784	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs374840823	chr5:1923811-1923812	Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs541280513	chr5:1923823-1923824	Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs192462956	chr5:1923833-1923834	Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs574542567	chr5:1923875-1923876	Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs541587498	chr5:1923878-1923879	Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs386684497	chr5:1923912-1923913	Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs113810505	chr5:1923913-1923914	Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs6865822	chr5:1923914-1923915	Enhancers Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs6881134	chr5:1923961-1923962	Enhancers Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs149281778	chr5:1923983-1923984	Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs144540600	chr5:1924018-1924019	Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs546853777	chr5:1924042-1924043	Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs568597333	chr5:1924048-1924049	Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs73732364	chr5:1924058-1924059	Enhancers Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs550844804	chr5:1924076-1924077	Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs6880206	chr5:1924088-1924089	Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs367754817	chr5:1924096-1924097	Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs182677956	chr5:1924107-1924108	Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs35521830	chr5:1924114-1924115	Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs73732366	chr5:1924130-1924131	Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs534932373	chr5:1924137-1924138	Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs116482816	chr5:1924140-1924141	Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs531479894	chr5:1924155-1924156	Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs188865666	chr5:1924156-1924157	Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs556837199	chr5:1924169-1924170	Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs574995887	chr5:1924173-1924174	Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs371571301	chr5:1924181-1924182	Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs368277181	chr5:1924206-1924207	Enhancers Weak transcription Bivalent/Poised TSS	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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:1917200-1923800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:1923600-1924400	Bivalent/Poised TSS	Hela-S3	cervix
3	chr5:1923800-1924000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:1923800-1924400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:1924200-1928000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:1924400-1925600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:1925600-1926400	ZNF genes & repeats	Right Atrium	heart
8	chr5:1925600-1927600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:1925800-1926400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr5:1926000-1926200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr5:1926200-1929200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr5:1926400-1929200	Weak transcription	Right Atrium	heart

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