Variant report

Variant	esv3362887
Chromosome Location	chr13:89447000-89477498
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	chr13:89446778..89447282-chr20:52691355..52691999,2	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540845724	chr13:89455013-89455014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs559518587	chr13:89455019-89455020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571261524	chr13:89455027-89455028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567101982	chr13:89455033-89455034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs114196114	chr13:89455061-89455062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs182250352	chr13:89455143-89455144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs116329056	chr13:89455148-89455149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555290780	chr13:89455158-89455159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs150600997	chr13:89455205-89455206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549804760	chr13:89455225-89455226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186558965	chr13:89455250-89455251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536175440	chr13:89455275-89455276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554037840	chr13:89455277-89455278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191223148	chr13:89455284-89455285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575356229	chr13:89455315-89455316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs61961572	chr13:89455342-89455343	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs557883527	chr13:89455390-89455391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184849384	chr13:89455487-89455488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs543424327	chr13:89455551-89455552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555367207	chr13:89455569-89455570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs573823729	chr13:89455593-89455594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2785844	chr13:89455594-89455595	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs141923057	chr13:89469813-89469814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544486973	chr13:89469834-89469835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs58971963	chr13:89469888-89469889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs562819399	chr13:89469905-89469906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529894189	chr13:89469967-89469968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs373062321	chr13:89469968-89469969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs397808527	chr13:89469976-89469977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs191117673	chr13:89469992-89469993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs528607885	chr13:89470019-89470020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs539708477	chr13:89470035-89470036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs4520698	chr13:89470046-89470047	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs553601841	chr13:89470064-89470065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs182007767	chr13:89470068-89470069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs571623927	chr13:89470080-89470081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs367733426	chr13:89470086-89470087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs535465759	chr13:89470096-89470097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557226237	chr13:89470133-89470134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs186387237	chr13:89470166-89470167	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
abnormal development	18461090	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD
Osteosarcoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:89455000-89455600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr13:89469800-89470200	Enhancers	Dnd41	blood

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