Variant report

Variant	nsv1035852
Chromosome Location	chr13:55312711-55356124
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	chr13:55321697..55323262-chr13:55324790..55327522,2	K562	blood:
2	chr13:55321697..55323262-chr13:55324790..55327522,2	K562	blood:

Extended variants
information (count: 93 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535538268	chr13:55324612-55324613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs115257973	chr13:55324655-55324656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2447975	chr13:55324660-55324661	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs184356690	chr13:55324677-55324678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149062127	chr13:55324680-55324681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs143060943	chr13:55324682-55324683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138681110	chr13:55324704-55324705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192677300	chr13:55324713-55324714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142687354	chr13:55324716-55324717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548894029	chr13:55324803-55324804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569078486	chr13:55324854-55324855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189728195	chr13:55324911-55324912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs117886594	chr13:55324913-55324914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571582681	chr13:55324946-55324947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543611278	chr13:55324986-55324987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs570716278	chr13:55332631-55332632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs184486065	chr13:55332639-55332640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs9536857	chr13:55332650-55332651	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs80034678	chr13:55332657-55332658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs140006878	chr13:55332694-55332695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs188658469	chr13:55332747-55332748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs116176228	chr13:55332841-55332842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558001144	chr13:55332904-55332905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs576206525	chr13:55332910-55332911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs578187916	chr13:55332916-55332917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs149857997	chr13:55332926-55332927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs553526800	chr13:55332950-55332951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs369312037	chr13:55332975-55332976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs573675897	chr13:55332980-55332981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs542774041	chr13:55333041-55333042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs77169329	chr13:55333062-55333063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs562659040	chr13:55333077-55333078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531502770	chr13:55333116-55333117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs12430331	chr13:55333136-55333137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs545249002	chr13:55333213-55333214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs565141747	chr13:55333245-55333246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs527600408	chr13:55333246-55333247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs546965103	chr13:55333293-55333294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs9569091	chr13:55333298-55333299	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs192813753	chr13:55333311-55333312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs185731524	chr13:55333320-55333321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569031312	chr13:55333364-55333365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs538002703	chr13:55333366-55333367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs7323434	chr13:55333367-55333368	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs569445850	chr13:55348805-55348806	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs35618115	chr13:55348880-55348881	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs187137336	chr13:55348885-55348886	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs191632726	chr13:55348888-55348889	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs551379563	chr13:55348901-55348902	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs571227499	chr13:55348902-55348903	ZNF genes & repeats	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
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	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
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21858162	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	20729466	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	18852474	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
Glioblastoma multiforme	22286061	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
Urothelial carcinoma	21177765	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
early-passage human iPS cells	21368824	CNVD
Esophageal squamous carcinoma	17470683	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:55324600-55325000	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr13:55332600-55333200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr13:55333000-55333400	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr13:55348800-55350000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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