Variant report

Variant	nsv983730
Chromosome Location	chr13:90325785-90332655
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184196932	chr13:90327819-90327820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs576348679	chr13:90327826-90327827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs188578558	chr13:90327892-90327893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550385798	chr13:90327920-90327921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191491694	chr13:90327936-90327937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs9522627	chr13:90327937-90327938	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs547100734	chr13:90328027-90328028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375210967	chr13:90328124-90328125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559601720	chr13:90328180-90328181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs75538838	chr13:90328205-90328206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149610849	chr13:90328244-90328245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376905744	chr13:90328295-90328296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200944085	chr13:90328308-90328309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs57818338	chr13:90328310-90328311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371783687	chr13:90328311-90328312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566680713	chr13:90328382-90328383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs199731296	chr13:90328388-90328389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs60234782	chr13:90328404-90328405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2349547	chr13:90328457-90328458	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs550026935	chr13:90328462-90328463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568436307	chr13:90328464-90328465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537346283	chr13:90328548-90328549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553887055	chr13:90328588-90328589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs9522628	chr13:90328599-90328600	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs539545003	chr13:90328620-90328621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184413819	chr13:90328628-90328629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567832532	chr13:90328656-90328657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147330201	chr13:90328658-90328659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543660146	chr13:90328702-90328703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139318862	chr13:90328754-90328755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573989755	chr13:90328760-90328761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540982349	chr13:90328860-90328861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74481412	chr13:90328863-90328864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190502665	chr13:90328880-90328881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532990557	chr13:90328882-90328883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs9301614	chr13:90328908-90328909	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs79016541	chr13:90328954-90328955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182379593	chr13:90328960-90328961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549964263	chr13:90329051-90329052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568373046	chr13:90329064-90329065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376840186	chr13:90329069-90329070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535762031	chr13:90329096-90329097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186935834	chr13:90329148-90329149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554757338	chr13:90329150-90329151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75620836	chr13:90329156-90329157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539853503	chr13:90329157-90329158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs28615921	chr13:90329166-90329167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143421816	chr13:90329198-90329199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188972930	chr13:90329237-90329238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs537198041	chr13:90329253-90329254	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Developmental delay	21147756	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
Non-syndromic sensorineural hearing loss	18496225	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
abnormal development	18461090	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:90327800-90328000	Enhancers	Gastric	stomach
2	chr13:90327800-90328000	Enhancers	Spleen	Spleen
3	chr13:90328000-90329200	Weak transcription	HUVEC	blood vessel
4	chr13:90329200-90329800	Enhancers	HUVEC	blood vessel

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