Variant report

Variant	esv3334449
Chromosome Location	chr13:63622491-63622960
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	chr13:63620345..63622864-chr17:21666900..21668712,2	K562	blood:
2	chr13:63619880..63624018-chr17:21665172..21668893,6	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75351594	chr13:63622495-63622496	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs556229005	chr13:63622501-63622502	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs2669322	chr13:63622502-63622503	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs141694092	chr13:63622523-63622524	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs67223232	chr13:63622525-63622526	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs374827750	chr13:63622528-63622529	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs73195393	chr13:63622541-63622542	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs73195394	chr13:63622550-63622551	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs67075511	chr13:63622555-63622556	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs368254801	chr13:63622571-63622572	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs377604686	chr13:63622572-63622573	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs113497404	chr13:63622580-63622581	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs117907343	chr13:63622596-63622597	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs33967895	chr13:63622608-63622609	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs554045597	chr13:63622609-63622610	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs33944364	chr13:63622620-63622621	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs374422454	chr13:63622624-63622625	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs572213660	chr13:63622626-63622627	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs75145818	chr13:63622635-63622636	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs112241631	chr13:63622653-63622654	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs79956863	chr13:63622655-63622656	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs539880887	chr13:63622657-63622658	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs78226351	chr13:63622663-63622664	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs78620262	chr13:63622676-63622677	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs557510461	chr13:63622691-63622692	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs576961661	chr13:63622705-63622706	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs201189161	chr13:63622707-63622708	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs74661204	chr13:63622708-63622709	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs76247135	chr13:63622714-63622715	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs77367074	chr13:63622742-63622743	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs79370419	chr13:63622757-63622758	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs73195395	chr13:63622770-63622771	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs78996596	chr13:63622775-63622776	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs201625789	chr13:63622814-63622815	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs75306378	chr13:63622816-63622817	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs113168171	chr13:63622817-63622818	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs199976173	chr13:63622818-63622819	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs112359277	chr13:63622853-63622854	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs375988432	chr13:63622857-63622858	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs115408985	chr13:63622866-63622867	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs114363570	chr13:63622904-63622905	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs112609186	chr13:63622905-63622906	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs150203906	chr13:63622908-63622909	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs150690525	chr13:63622909-63622910	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs34832317	chr13:63622913-63622914	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs397851955	chr13:63622915-63622916	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs61953766	chr13:63622933-63622934	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs61953767	chr13:63622936-63622937	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs61953768	chr13:63622944-63622945	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs201082830	chr13:63622946-63622947	Weak transcription ZNF genes & repeats	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
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:63621200-63627400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr13:63622200-63624800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr13:63622200-63625400	Weak transcription	K562	blood
4	chr13:63622400-63623800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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