Variant report

Variant	nsv1052482
Chromosome Location	chr13:66662516-66696659
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:66677587..66680337-chr13:66682446..66685267,2	K562	blood:
2	chr13:66677587..66680337-chr13:66682446..66685267,2	K562	blood:
3	chr12:28240626..28241152-chr13:66662383..66662898,2	MCF-7	breast:

Extended variants
information (count: 177 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:177 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538832151	chr13:66662553-66662554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs375829703	chr13:66662556-66662557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546531965	chr13:66662571-66662572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573748387	chr13:66666613-66666614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs370194083	chr13:66666618-66666619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs58613882	chr13:66666672-66666673	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs559822130	chr13:66666709-66666710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547087179	chr13:66666710-66666711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs76248756	chr13:66666714-66666715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs60615478	chr13:66666741-66666742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs117124599	chr13:66666781-66666782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs531112703	chr13:66666794-66666795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs144748710	chr13:66666821-66666822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs188017863	chr13:66666827-66666828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs530286206	chr13:66666891-66666892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs145594059	chr13:66666896-66666897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs115038569	chr13:66666900-66666901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs565808796	chr13:66666902-66666903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs193091182	chr13:66666917-66666918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs148553285	chr13:66666921-66666922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs571225214	chr13:66666937-66666938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537361050	chr13:66666944-66666945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs377365778	chr13:66666945-66666946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184056483	chr13:66666947-66666948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs35101782	chr13:66666978-66666979	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs552880535	chr13:66667008-66667009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573046172	chr13:66667009-66667010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545052778	chr13:66667040-66667041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144418593	chr13:66667052-66667053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76180051	chr13:66667056-66667057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112432432	chr13:66667069-66667070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561661349	chr13:66667085-66667086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530320614	chr13:66667087-66667088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540869949	chr13:66667095-66667096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557212225	chr13:66667109-66667110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532843942	chr13:66667163-66667164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146624409	chr13:66667186-66667187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551469151	chr13:66667214-66667215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs202128361	chr13:66667260-66667261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188206699	chr13:66667290-66667291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs75207414	chr13:66667298-66667299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs78112226	chr13:66667299-66667300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200465515	chr13:66667319-66667320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192153647	chr13:66667331-66667332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550287711	chr13:66667399-66667400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567589088	chr13:66667413-66667414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536151255	chr13:66667414-66667415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2767647	chr13:66667534-66667535	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs566288649	chr13:66667579-66667580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560637066	chr13:66667599-66667600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
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	20606397	CNVD
Prostate cancer	16461572	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Intellectual disability	21811512	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	20877625	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:66660800-66662600	Enhancers	Fetal Kidney	kidney
2	chr13:66666600-66667000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr13:66666800-66667000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr13:66666800-66667000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr13:66667000-66668600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr13:66668600-66668800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr13:66673200-66673600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr13:66673200-66673800	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr13:66673400-66674000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr13:66677000-66677400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr13:66684600-66684800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr13:66688000-66688200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr13:66688000-66688600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr13:66688000-66688800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr13:66688000-66688800	Enhancers	NHDF-Ad	bronchial
16	chr13:66688200-66688400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr13:66688400-66688800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr13:66688400-66688800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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