Variant report

Variant	nsv916531
Chromosome Location	chr13:92922404-92941030
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189264189	chr13:92922421-92922422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs142785516	chr13:92922458-92922459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528244214	chr13:92922502-92922503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532130241	chr13:92922503-92922504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs72638616	chr13:92922549-92922550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551913770	chr13:92922645-92922646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182365630	chr13:92922652-92922653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537720194	chr13:92922676-92922677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548083298	chr13:92922717-92922718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs12877870	chr13:92922737-92922738	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs533779426	chr13:92922756-92922757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs12874185	chr13:92922757-92922758	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs368953982	chr13:92922787-92922788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs9516033	chr13:92933005-92933006	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs539643778	chr13:92933006-92933007	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs148396772	chr13:92933007-92933008	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs114892054	chr13:92933013-92933014	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs548702596	chr13:92933014-92933015	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs188062008	chr13:92933022-92933023	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs568358873	chr13:92933034-92933035	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs142519458	chr13:92933039-92933040	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs9523586	chr13:92933052-92933053	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs192688345	chr13:92933058-92933059	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs577575712	chr13:92933086-92933087	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs61966609	chr13:92933118-92933119	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs9589479	chr13:92933130-92933131	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs576717265	chr13:92933141-92933142	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs369545807	chr13:92933204-92933205	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs35041708	chr13:92933207-92933208	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs561086983	chr13:92933222-92933223	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs574332657	chr13:92933223-92933224	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs71427543	chr13:92933224-92933225	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs184726909	chr13:92933257-92933258	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs532247189	chr13:92933259-92933260	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs552057683	chr13:92933261-92933262	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs562303695	chr13:92933310-92933311	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs531580352	chr13:92933332-92933333	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs71419722	chr13:92933342-92933343	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs9516035	chr13:92933343-92933344	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs534049940	chr13:92933358-92933359	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs189592062	chr13:92933377-92933378	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs181515753	chr13:92933381-92933382	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs9516036	chr13:92933387-92933388	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs9516037	chr13:92933395-92933396	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs113279778	chr13:92933416-92933417	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs145680938	chr13:92933435-92933436	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs115276268	chr13:92933436-92933437	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs9516038	chr13:92933452-92933453	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs184601629	chr13:92933469-92933470	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs371225527	chr13:92933496-92933497	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Metanephric adenoma	20802469	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Developmental delay	21147756	CNVD
Melanoma	20877625	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Developmental delay	20808231	CNVD
Obesity	20808231	CNVD
early-passage human iPS cells	21368824	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:92922400-92922800	Enhancers	Rectal Smooth Muscle	rectum
2	chr13:92933000-92933800	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr13:92933200-92933400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr13:92933200-92933800	Active TSS	HUES6 Cell Line	embryonic stem cell

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