Variant report

Variant	nsv519951
Chromosome Location	chr13:96922191-96923515
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1927790	chr13:96922191-96922192	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs118075018	chr13:96922210-96922211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577909349	chr13:96922294-96922295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs186393775	chr13:96922295-96922296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566850197	chr13:96922344-96922345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537500966	chr13:96922349-96922350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs4603419	chr13:96922364-96922365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs748457	chr13:96922449-96922450	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs150247003	chr13:96922537-96922538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549547712	chr13:96922564-96922565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs559275308	chr13:96922572-96922573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs748458	chr13:96922629-96922630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551341295	chr13:96922641-96922642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188927521	chr13:96922676-96922677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536615476	chr13:96922713-96922714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9554333	chr13:96922716-96922717	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs748459	chr13:96922722-96922723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs752328	chr13:96922856-96922857	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs116901600	chr13:96922860-96922861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201596106	chr13:96922867-96922868	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs398070404	chr13:96922874-96922875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs199894379	chr13:96922875-96922876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs752327	chr13:96922935-96922936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368216431	chr13:96922964-96922965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552689891	chr13:96922970-96922971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572505222	chr13:96922984-96922985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370914441	chr13:96922987-96922988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368386183	chr13:96923021-96923022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535222235	chr13:96923058-96923059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542484894	chr13:96923083-96923084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs578206084	chr13:96923122-96923123	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374516502	chr13:96923146-96923147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375820873	chr13:96923158-96923159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs77013093	chr13:96923170-96923171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563672169	chr13:96923189-96923190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs752326	chr13:96923203-96923204	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs138858460	chr13:96923238-96923239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559801164	chr13:96923239-96923240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528246095	chr13:96923298-96923299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181678343	chr13:96923322-96923323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370087684	chr13:96923339-96923340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564966324	chr13:96923347-96923348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530693803	chr13:96923354-96923355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs149489219	chr13:96923450-96923451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186196481	chr13:96923461-96923462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535851661	chr13:96923464-96923465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs74811313	chr13:96923501-96923502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs4381453	chr13:96923515-96923516	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:82)

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
Basal cell lymphoma	21115979	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:96918600-96922200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr13:96921800-96925200	Enhancers	Fetal Intestine Large	intestine
3	chr13:96922200-96922600	Enhancers	Pancreas	Pancrea
4	chr13:96922200-96922800	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr13:96922200-96924800	Enhancers	Fetal Intestine Small	intestine
6	chr13:96922600-96926600	Weak transcription	Pancreas	Pancrea
7	chr13:96922800-96923200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr13:96922800-96924000	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr13:96923000-96923400	Enhancers	H9 Cell Line	embryonic stem cell
10	chr13:96923000-96923400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr13:96923000-96923400	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr13:96923000-96923400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr13:96923000-96924000	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr13:96923200-96923400	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr13:96923400-96924200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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