Variant report

Variant	nsv974249
Chromosome Location	chr13:63642112-63653549
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:63647679..63650483-chr20:26148365..26151073,2	K562	blood:
2	chr13:63647686..63648379-chr3:64675736..64676331,2	MCF-7	breast:
3	chr13:63647812..63648534-chr20:26148535..26149113,2	MCF-7	breast:

Extended variants
information (count: 502 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:502 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548412835	chr13:63644851-63644852	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs386771655	chr13:63644872-63644873	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs73201227	chr13:63644873-63644874	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs78189453	chr13:63644876-63644877	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs76149316	chr13:63644882-63644883	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs74637289	chr13:63644894-63644895	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs75457446	chr13:63644905-63644906	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs79581644	chr13:63644910-63644911	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs200551178	chr13:63644932-63644933	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs533972573	chr13:63644941-63644942	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs558900744	chr13:63644958-63644959	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs577658189	chr13:63644987-63644988	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs76930821	chr13:63644990-63644991	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs538540641	chr13:63645020-63645021	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs74084579	chr13:63645024-63645025	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs74084580	chr13:63645029-63645030	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs76437356	chr13:63645046-63645047	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs76353421	chr13:63645047-63645048	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs74084581	chr13:63645059-63645060	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs556857089	chr13:63645072-63645073	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs79463222	chr13:63645092-63645093	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs34531977	chr13:63645103-63645104	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs200174161	chr13:63645105-63645106	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs200772483	chr13:63645106-63645107	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs79701136	chr13:63645107-63645108	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs76572440	chr13:63645113-63645114	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs74084582	chr13:63645167-63645168	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs76692679	chr13:63645183-63645184	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs35316775	chr13:63645186-63645187	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs386771656	chr13:63645193-63645194	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs74529917	chr13:63645195-63645196	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs575102437	chr13:63645196-63645197	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs79232459	chr13:63645205-63645206	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs542381979	chr13:63645214-63645215	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs73201228	chr13:63645219-63645220	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs73201229	chr13:63645221-63645222	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs560018604	chr13:63645230-63645231	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs75906840	chr13:63645249-63645250	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs572093836	chr13:63645254-63645255	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs3106411	chr13:63645258-63645259	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs76073356	chr13:63645261-63645262	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs563738223	chr13:63645264-63645265	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs531164461	chr13:63645279-63645280	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs74084589	chr13:63645284-63645285	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs559616767	chr13:63645290-63645291	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs66913639	chr13:63645301-63645302	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs79119019	chr13:63645303-63645304	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs549677773	chr13:63645308-63645309	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs76457472	chr13:63645309-63645310	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs73201230	chr13:63645318-63645319	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:63644800-63647600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr13:63648200-63650000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr13:63649800-63650000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr13:63650000-63650800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr13:63650000-63652600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr13:63650800-63651800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr13:63651800-63657400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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