Variant report

Variant	nsv498811
Chromosome Location	chr13:48778651-48785786
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:48784546..48786736-chr13:48788727..48791333,2	K562	blood:

Extended variants
information (count: 95 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551074839	chr13:48783612-48783613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs554282752	chr13:48783619-48783620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187962580	chr13:48783642-48783643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191139068	chr13:48783648-48783649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs111595962	chr13:48783669-48783670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs8000366	chr13:48783695-48783696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138295283	chr13:48783705-48783706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573936248	chr13:48783708-48783709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs28688885	chr13:48783718-48783719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs28679743	chr13:48783719-48783720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs34311021	chr13:48783782-48783783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182501909	chr13:48783833-48783834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187729676	chr13:48783840-48783841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546676366	chr13:48783841-48783842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs149614255	chr13:48783879-48783880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs376347698	chr13:48783894-48783895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs555951355	chr13:48783906-48783907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192584548	chr13:48783913-48783914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538207333	chr13:48783922-48783923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184520078	chr13:48783926-48783927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs144394225	chr13:48783981-48783982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555347380	chr13:48784018-48784019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs537433959	chr13:48784059-48784060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs561197657	chr13:48784078-48784079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140984818	chr13:48784109-48784110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs201438435	chr13:48784139-48784140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs75102849	chr13:48784190-48784191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544379729	chr13:48784235-48784236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113444872	chr13:48784238-48784239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562814548	chr13:48784255-48784256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533472035	chr13:48784288-48784289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551447457	chr13:48784306-48784307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376336753	chr13:48784372-48784373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143438174	chr13:48784422-48784423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369484003	chr13:48784430-48784431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147146796	chr13:48784477-48784478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187519156	chr13:48784488-48784489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192088366	chr13:48784493-48784494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531760372	chr13:48784499-48784500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550351379	chr13:48784527-48784528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs78953303	chr13:48784529-48784530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185009661	chr13:48784553-48784554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553630170	chr13:48784619-48784620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565661012	chr13:48784626-48784627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536290667	chr13:48784634-48784635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs116853263	chr13:48784689-48784690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541627046	chr13:48784706-48784707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576428432	chr13:48784714-48784715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189518833	chr13:48784751-48784752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78312358	chr13:48784769-48784770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	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
Breast cancer	22522925	CNVD
Osteosarcoma	21215367	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48783600-48784200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr13:48783600-48785000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr13:48783600-48785000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr13:48783600-48785000	Enhancers	NHEK	skin
5	chr13:48783600-48785200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr13:48783600-48785200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr13:48783800-48784000	Enhancers	NHLF	lung
8	chr13:48783800-48784600	Enhancers	NHDF-Ad	bronchial
9	chr13:48783800-48784800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr13:48783800-48785000	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr13:48783800-48785200	Enhancers	HMEC	breast
12	chr13:48784000-48784400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr13:48784000-48784800	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr13:48784000-48784800	Enhancers	HSMM	muscle
15	chr13:48784000-48785000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr13:48784000-48785000	Enhancers	Muscle Satellite Cultured Cells	--
17	chr13:48784000-48785000	Enhancers	Osteobl	bone
18	chr13:48784000-48785200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr13:48784200-48784800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr13:48784200-48785000	Enhancers	Hela-S3	cervix
21	chr13:48784200-48792600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr13:48784800-48788800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr13:48784800-48791400	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr13:48785000-48790000	Weak transcription	Osteobl	bone
25	chr13:48785200-48785600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr13:48785200-48785800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr13:48785200-48788600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr13:48785200-48788600	Weak transcription	HMEC	breast
29	chr13:48785600-48786200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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