Variant report

Variant	nsv976060
Chromosome Location	chr13:69730530-69752982
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:69745779..69747312-chr13:69749716..69751908,2	K562	blood:
2	chr13:69745232..69748502-chr13:69749716..69752165,3	K562	blood:
3	chr13:69745779..69747312-chr13:69749716..69751908,2	K562	blood:
4	chr13:69745232..69748502-chr13:69749716..69752165,3	K562	blood:

Extended variants
information (count: 470 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:470 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530463839	chr13:69740404-69740405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs543695612	chr13:69740406-69740407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184817209	chr13:69740411-69740412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573859736	chr13:69740447-69740448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs117923280	chr13:69740496-69740497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559608176	chr13:69740551-69740552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187035888	chr13:69740600-69740601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185281651	chr13:69741006-69741007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557009849	chr13:69741031-69741032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140443770	chr13:69741036-69741037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190181998	chr13:69741149-69741150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145719407	chr13:69741179-69741180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573115924	chr13:69741202-69741203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541511281	chr13:69741211-69741212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138300582	chr13:69741222-69741223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533343145	chr13:69741238-69741239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555265304	chr13:69741244-69741245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9541803	chr13:69741249-69741250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529498973	chr13:69741316-69741317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549275421	chr13:69741347-69741348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565928103	chr13:69741355-69741356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528729157	chr13:69741358-69741359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543754195	chr13:69741453-69741454	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs551437740	chr13:69741470-69741471	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs548208712	chr13:69741473-69741474	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs571291632	chr13:69741482-69741483	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs562269876	chr13:69741515-69741516	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs537170647	chr13:69741527-69741528	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs141356602	chr13:69741591-69741592	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs77203614	chr13:69741624-69741625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536539081	chr13:69741655-69741656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553351031	chr13:69741708-69741709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572970095	chr13:69741747-69741748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs114199957	chr13:69741781-69741782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558733175	chr13:69741798-69741799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs578013218	chr13:69741803-69741804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145095539	chr13:69741822-69741823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138947596	chr13:69741832-69741833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527802702	chr13:69741857-69741858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573740974	chr13:69741860-69741861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542913560	chr13:69741886-69741887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2053711	chr13:69741897-69741898	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs11148801	chr13:69741933-69741934	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs181524507	chr13:69741986-69741987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551652258	chr13:69741994-69741995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565476297	chr13:69741995-69741996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530479018	chr13:69742034-69742035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201398167	chr13:69742055-69742056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550733702	chr13:69742069-69742070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533554654	chr13:69742070-69742071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Myelofibrosis	22110671	CNVD
Esophageal cancer	21851588	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:69740400-69740600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr13:69741000-69742400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr13:69741400-69741600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
4	chr13:69741600-69742600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr13:69742400-69742600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
6	chr13:69742400-69742600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr13:69742400-69742800	Active TSS	Hela-S3	cervix
8	chr13:69742400-69743000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr13:69742600-69743000	Active TSS	A549	lung
10	chr13:69742600-69770200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr13:69747600-69748200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr13:69747600-69749400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr13:69748200-69754200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr13:69748600-69749400	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr13:69748800-69749200	Enhancers	H1 Cell Line	embryonic stem cell
16	chr13:69749400-69754200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr13:69749400-69754400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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