Variant report

Variant	nsv983697
Chromosome Location	chr13:48213340-48221570
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 262 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:262 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187743848	chr13:48213359-48213360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs541120661	chr13:48213392-48213393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191270251	chr13:48213432-48213433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1172428	chr13:48213441-48213442	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs548044707	chr13:48213452-48213453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs76334194	chr13:48213492-48213493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs9562754	chr13:48213675-48213676	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs373338562	chr13:48213736-48213737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184722760	chr13:48213739-48213740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571296476	chr13:48213765-48213766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs150462693	chr13:48213770-48213771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs74073761	chr13:48213804-48213805	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs78750071	chr13:48213827-48213828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs377441640	chr13:48213849-48213850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs75934662	chr13:48213862-48213863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs79241195	chr13:48213875-48213876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs570262511	chr13:48213876-48213877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537343439	chr13:48213907-48213908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559245778	chr13:48213954-48213955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs74073762	chr13:48213976-48213977	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs9534713	chr13:48213979-48213980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs553017773	chr13:48214005-48214006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs574566302	chr13:48214019-48214020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs74073763	chr13:48214071-48214072	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs539789167	chr13:48214147-48214148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs528833731	chr13:48214156-48214157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs141343619	chr13:48214174-48214175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs1409484	chr13:48214210-48214211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568569613	chr13:48214260-48214261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560913768	chr13:48214267-48214268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs1172427	chr13:48214274-48214275	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs563994086	chr13:48214281-48214282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs537544773	chr13:48214309-48214310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs376840847	chr13:48214317-48214318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs370416768	chr13:48214341-48214342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs1359663	chr13:48214354-48214355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs1172426	chr13:48214358-48214359	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs368916293	chr13:48214479-48214480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs545196301	chr13:48214480-48214481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs139003325	chr13:48214522-48214523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149776630	chr13:48215621-48215622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs563565820	chr13:48215624-48215625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs61954667	chr13:48215632-48215633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs145696212	chr13:48215726-48215727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs564660445	chr13:48215753-48215754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs547006364	chr13:48215777-48215778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs1571061	chr13:48215794-48215795	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs547217990	chr13:48215860-48215861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs1536363	chr13:48215874-48215875	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs1536364	chr13:48215902-48215903	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:120)

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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17899364	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Melanoma	18172304	CNVD
Retinoblastoma	21504564	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Mental retardation	17502991	CNVD
Retinoblastoma	17502991	CNVD
Bipolar disorder	18458673	CNVD
Liposarcoma	21253554	CNVD
T-cell lymphomas	19863542	CNVD
Cervical cancer	21062161	CNVD
microdeletion syndrome	19284877	CNVD
Ovarian cancer	22355333	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	21088497	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22048815	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	21750150	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Non-small cell lung cancer	21829676	CNVD
Phyllodes tumor	17334353	CNVD
Retinoblastoma	22278416	CNVD
Glioblastoma multiforme	19435819	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48213200-48214600	Enhancers	Hela-S3	cervix
2	chr13:48213400-48214400	Enhancers	Liver	Liver
3	chr13:48213800-48214200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr13:48213800-48214600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr13:48215600-48216000	Enhancers	Colon Smooth Muscle	Colon
6	chr13:48216000-48220600	Weak transcription	Colon Smooth Muscle	Colon
7	chr13:48220200-48220400	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr13:48220200-48220800	Enhancers	Rectal Smooth Muscle	rectum
9	chr13:48220200-48220800	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr13:48220600-48221000	Enhancers	Colon Smooth Muscle	Colon
11	chr13:48221000-48221200	Weak transcription	Colon Smooth Muscle	Colon
12	chr13:48221200-48221400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr13:48221200-48222000	Enhancers	Colon Smooth Muscle	Colon

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