Variant report

Variant	esv1796502
Chromosome Location	chr13:64222995-64236589
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 231 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:231 , 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	rs576679370	chr13:64223221-64223222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs146067680	chr13:64223226-64223227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs367959298	chr13:64223233-64223234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549381065	chr13:64223240-64223241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562310284	chr13:64223264-64223265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185239130	chr13:64223267-64223268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541595702	chr13:64223273-64223274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535399108	chr13:64223284-64223285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189629978	chr13:64223301-64223302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547169046	chr13:64223307-64223308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571981822	chr13:64223327-64223328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs371466585	chr13:64223344-64223345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532823165	chr13:64223355-64223356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569281287	chr13:64223360-64223361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs147849780	chr13:64223361-64223362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs537502090	chr13:64223379-64223380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569184735	chr13:64223390-64223391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536631844	chr13:64223405-64223406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554804157	chr13:64223531-64223532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs566950710	chr13:64223564-64223565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533741379	chr13:64223576-64223577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs554525527	chr13:64223580-64223581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538150280	chr13:64223614-64223615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376266842	chr13:64223624-64223625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs576740811	chr13:64223630-64223631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537718090	chr13:64223637-64223638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs370059423	chr13:64223652-64223653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs372166188	chr13:64223660-64223661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs542450774	chr13:64223718-64223719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192353857	chr13:64223727-64223728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs183824264	chr13:64223732-64223733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs188151454	chr13:64223740-64223741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs571787357	chr13:64223769-64223770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs377028118	chr13:64223783-64223784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs541806623	chr13:64223845-64223846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs567968798	chr13:64223865-64223866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559994621	chr13:64223870-64223871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs116412859	chr13:64223907-64223908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs540847061	chr13:64223930-64223931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs565453413	chr13:64223940-64223941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs146980022	chr13:64223996-64223997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181475393	chr13:64224004-64224005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563185710	chr13:64224013-64224014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs530083831	chr13:64224034-64224035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs563971299	chr13:64224035-64224036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs138418162	chr13:64224051-64224052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs148015726	chr13:64224098-64224099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs141669169	chr13:64224099-64224100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs2590921	chr13:64224147-64224148	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs75429302	chr13:64224169-64224170	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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:64223200-64224400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr13:64223600-64224200	Enhancers	Brain Substantia Nigra	brain
3	chr13:64223800-64224200	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr13:64224000-64224400	Enhancers	H9 Cell Line	embryonic stem cell
5	chr13:64224400-64227200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr13:64227200-64227400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr13:64233000-64233600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr13:64235400-64235600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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