Variant report

Variant	nsv521410
Chromosome Location	chr13:96905617-96908722
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 109 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1927801	chr13:96905617-96905618	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs572354398	chr13:96905629-96905630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146081091	chr13:96905661-96905662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs578001204	chr13:96905711-96905712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111440916	chr13:96905769-96905770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564641892	chr13:96905802-96905803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563285737	chr13:96905808-96905809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75332198	chr13:96905826-96905827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542687018	chr13:96905843-96905844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs9590375	chr13:96905872-96905873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538004221	chr13:96905873-96905874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547606052	chr13:96905927-96905928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564394539	chr13:96906014-96906015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533457485	chr13:96906016-96906017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550102943	chr13:96906019-96906020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141930592	chr13:96906039-96906040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs79914938	chr13:96906092-96906093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9562059	chr13:96906102-96906103	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs189836539	chr13:96906182-96906183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534759596	chr13:96906186-96906187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557993831	chr13:96906226-96906227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577952980	chr13:96906318-96906319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537338536	chr13:96906323-96906324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77450810	chr13:96906349-96906350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181032278	chr13:96906391-96906392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542274338	chr13:96906397-96906398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12874126	chr13:96906501-96906502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12874246	chr13:96906550-96906551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559371395	chr13:96906571-96906572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12873238	chr13:96906601-96906602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572607645	chr13:96906639-96906640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541189914	chr13:96906640-96906641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12560870	chr13:96906646-96906647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12874409	chr13:96906665-96906666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112419201	chr13:96906684-96906685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113047976	chr13:96906685-96906686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs61463964	chr13:96906697-96906698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9590376	chr13:96906702-96906703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200871715	chr13:96906745-96906746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs202147230	chr13:96906752-96906753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370877859	chr13:96906753-96906754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs9525167	chr13:96906754-96906755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201252835	chr13:96906757-96906758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs57269401	chr13:96906758-96906759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9584348	chr13:96906760-96906761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9525168	chr13:96906764-96906765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542162346	chr13:96906826-96906827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373746650	chr13:96906827-96906828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs9516651	chr13:96906833-96906834	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs550429288	chr13:96906983-96906984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
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
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Rhabdomyosarcoma	17210683	CNVD
Wilms tumour	21544195	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	19651601	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Burkitt''s lymphoma	20823134	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Basal cell lymphoma	21115979	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:96903600-96907000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr13:96907000-96907400	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr13:96907400-96918000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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