Variant report

Variant	esv2536836
Chromosome Location	chr5:2208743-2211182
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	chr5:1882886..1884587-chr5:2207431..2210324,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249116	chromatin interactions

Extended variants
information (count: 97 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184270570	chr5:2208758-2208759	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs544116066	chr5:2208772-2208773	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs532968329	chr5:2208800-2208801	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs551491751	chr5:2208845-2208846	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs566493147	chr5:2208894-2208895	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs527462296	chr5:2208962-2208963	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs370021099	chr5:2208970-2208971	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs187188856	chr5:2208978-2208979	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs372708286	chr5:2209030-2209031	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs540479095	chr5:2209036-2209037	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs9312988	chr5:2209084-2209085	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs116167818	chr5:2209085-2209086	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs149116526	chr5:2209116-2209117	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs577465728	chr5:2209140-2209141	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs539485331	chr5:2209151-2209152	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs557824847	chr5:2209152-2209153	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs573284174	chr5:2209153-2209154	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs56356648	chr5:2209163-2209164	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs534387557	chr5:2209168-2209169	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs192899003	chr5:2209262-2209263	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs544910588	chr5:2209296-2209297	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs368540418	chr5:2209337-2209338	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs574198261	chr5:2209418-2209419	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs369268784	chr5:2209422-2209423	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs563217456	chr5:2209461-2209462	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs559684892	chr5:2209485-2209486	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs78203471	chr5:2209530-2209531	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs545051839	chr5:2209558-2209559	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs527309230	chr5:2209579-2209580	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs371474697	chr5:2209601-2209602	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs372704705	chr5:2209604-2209605	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs35444695	chr5:2209606-2209607	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs146320393	chr5:2209650-2209651	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs527364090	chr5:2209698-2209699	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs549086415	chr5:2209718-2209719	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs549040783	chr5:2209732-2209733	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs35673293	chr5:2209810-2209811	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs531410094	chr5:2209916-2209917	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs549652846	chr5:2209944-2209945	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs577333893	chr5:2209995-2209996	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs571252849	chr5:2210033-2210034	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs539425772	chr5:2210060-2210061	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs184389073	chr5:2210072-2210073	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs114649566	chr5:2210098-2210099	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs534007956	chr5:2210138-2210139	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs544801400	chr5:2210148-2210149	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs574142833	chr5:2210184-2210185	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs147878590	chr5:2210210-2210211	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs150298261	chr5:2210266-2210267	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs116559606	chr5:2210276-2210277	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
Cancer	20164919	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
Breast cancer	21364760	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

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:2206800-2208800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:2208000-2215200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr5:2208200-2213600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:2208400-2212400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:2208600-2208800	Enhancers	HUES48 Cell Line	embryonic stem cell

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