Variant report

Variant	nsv512331
Chromosome Location	chr13:85800085-85803428
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 123 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192509953	chr13:85800218-85800219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569490626	chr13:85800262-85800263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11843725	chr13:85800263-85800264	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs555074224	chr13:85800282-85800283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77930658	chr13:85800312-85800313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181898456	chr13:85800338-85800339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186115574	chr13:85800368-85800369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145505530	chr13:85800383-85800384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568792416	chr13:85800388-85800389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536573290	chr13:85800394-85800395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554433036	chr13:85800396-85800397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148832095	chr13:85800429-85800430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574305139	chr13:85800439-85800440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143458217	chr13:85800467-85800468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544913288	chr13:85800469-85800470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147971548	chr13:85800482-85800483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189787892	chr13:85800485-85800486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182118702	chr13:85800503-85800504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573485699	chr13:85800508-85800509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561281335	chr13:85800561-85800562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs199784696	chr13:85800606-85800607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12875871	chr13:85800651-85800652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528466706	chr13:85800665-85800666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188398585	chr13:85800685-85800686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191143783	chr13:85800745-85800746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs17079470	chr13:85800750-85800751	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs12874834	chr13:85800765-85800766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183840982	chr13:85800777-85800778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12874993	chr13:85800853-85800854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7326121	chr13:85800871-85800872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191995851	chr13:85800923-85800924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563830126	chr13:85800956-85800957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370300667	chr13:85800974-85800975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140721357	chr13:85800975-85800976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145848691	chr13:85801030-85801031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138448422	chr13:85801046-85801047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566947741	chr13:85801087-85801088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142945999	chr13:85801102-85801103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552539263	chr13:85801114-85801115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150649965	chr13:85801173-85801174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373809122	chr13:85801192-85801193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538677883	chr13:85801193-85801194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138782559	chr13:85801205-85801206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558683536	chr13:85801225-85801226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576923823	chr13:85801268-85801269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115161593	chr13:85801329-85801330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577044891	chr13:85801367-85801368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149369304	chr13:85801486-85801487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144684314	chr13:85801492-85801493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373516180	chr13:85801513-85801514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	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
Breast cancer	21858162	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
Congenital anomalies of the kidney and urinary tract	18316590	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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	19490664	CNVD
Neurodevelopmental disorder	22521361	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:85798000-85804200	Weak transcription	Fetal Stomach	stomach
2	chr13:85798800-85803600	Weak transcription	Fetal Lung	lung

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