Variant report

Variant	esv1798211
Chromosome Location	chr13:64161362-64170392
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs982583	chr13:64161362-64161363	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs140008322	chr13:64161409-64161410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552169345	chr13:64161478-64161479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570452371	chr13:64161487-64161488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143898529	chr13:64161509-64161510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549860758	chr13:64161511-64161512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552831026	chr13:64168601-64168602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570897829	chr13:64168633-64168634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs112851169	chr13:64168657-64168658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs111808617	chr13:64168742-64168743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556697622	chr13:64168779-64168780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568536098	chr13:64168826-64168827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs201052790	chr13:64168852-64168853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189376569	chr13:64168894-64168895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552888413	chr13:64168911-64168912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs369352608	chr13:64168939-64168940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572182336	chr13:64168987-64168988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545821241	chr13:64168995-64168996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs180991474	chr13:64169036-64169037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575638021	chr13:64169055-64169056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541657717	chr13:64169072-64169073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs542986988	chr13:64169074-64169075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs561563259	chr13:64169093-64169094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs561461857	chr13:64169114-64169115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528990290	chr13:64169115-64169116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs541100693	chr13:64169140-64169141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs57242055	chr13:64169154-64169155	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs555118389	chr13:64169157-64169158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs552604897	chr13:64169169-64169170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs186045970	chr13:64169178-64169179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs531757472	chr13:64169236-64169237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs189768568	chr13:64169239-64169240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568447957	chr13:64169259-64169260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574961291	chr13:64169307-64169308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs147104091	chr13:64169396-64169397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs147803273	chr13:64169429-64169430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs554233370	chr13:64169435-64169436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs565747208	chr13:64169445-64169446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs539576000	chr13:64169513-64169514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs78199807	chr13:64169524-64169525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs372596892	chr13:64169529-64169530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs116190394	chr13:64169578-64169579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs138480188	chr13:64169627-64169628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs181090031	chr13:64169743-64169744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs573299259	chr13:64169767-64169768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186785219	chr13:64169779-64169780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs547580752	chr13:64170045-64170046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs150242878	chr13:64170082-64170083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs539274349	chr13:64170098-64170099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs142558110	chr13:64170137-64170138	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21858162	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:64161200-64161600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr13:64168600-64169000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr13:64168600-64169000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr13:64168800-64169800	Enhancers	Fetal Heart	heart
5	chr13:64170000-64170400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr13:64170000-64170600	Enhancers	HMEC	breast
7	chr13:64170200-64170600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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