Variant report

Variant	nsv1028
Chromosome Location	chr13:47745293-47760918
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 497 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:497 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35441985	chr13:47745293-47745294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs58197554	chr13:47745296-47745297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200317728	chr13:47745297-47745298	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369647170	chr13:47745425-47745426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540725417	chr13:47745457-47745458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs1855287	chr13:47745492-47745493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
7	rs529652414	chr13:47745528-47745529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141537604	chr13:47745560-47745561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376445012	chr13:47745594-47745595	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531195028	chr13:47745655-47745656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567355959	chr13:47745718-47745719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552825701	chr13:47745728-47745729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs9567801	chr13:47745729-47745730	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs147072312	chr13:47745774-47745775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369690934	chr13:47745785-47745786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113802303	chr13:47745796-47745797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534034035	chr13:47745840-47745841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140592027	chr13:47745842-47745843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs71686000	chr13:47745843-47745844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372651203	chr13:47745856-47745857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554883834	chr13:47745861-47745862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs118059684	chr13:47745893-47745894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546822828	chr13:47745913-47745914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1819501	chr13:47745920-47745921	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs547713271	chr13:47745981-47745982	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576616257	chr13:47745991-47745992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138377382	chr13:47746002-47746003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs202225196	chr13:47746029-47746030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7331421	chr13:47746046-47746047	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs574407233	chr13:47746094-47746095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567800755	chr13:47746138-47746139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377278366	chr13:47746178-47746179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536702896	chr13:47746185-47746186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531254025	chr13:47746200-47746201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112626669	chr13:47746204-47746205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs367764507	chr13:47746206-47746207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370862947	chr13:47746214-47746215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555603890	chr13:47746272-47746273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182081958	chr13:47746361-47746362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564703554	chr13:47746362-47746363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528655522	chr13:47746363-47746364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186603441	chr13:47746364-47746365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192406015	chr13:47746376-47746377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113887055	chr13:47746450-47746451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35400789	chr13:47746578-47746579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183836712	chr13:47746581-47746582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537630121	chr13:47746648-47746649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1855286	chr13:47746652-47746653	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs577857924	chr13:47746659-47746660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141960850	chr13:47746670-47746671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:122)

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
Breast cancer	21509527	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
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21858162	CNVD
Cancer	17699850	CNVD
Ovarian cancer	17699850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Sinonasal adenocarcinoma	21360264	CNVD
Chronic lymphocytic leukemia	21215367	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:47743200-47749200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr13:47745000-47746000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr13:47746000-47747400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr13:47747400-47748200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr13:47747800-47748200	Enhancers	Adipose Nuclei	Adipose
6	chr13:47748000-47748200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr13:47748000-47749400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr13:47748200-47748400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr13:47748200-47749200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr13:47748200-47749200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr13:47748400-47749400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr13:47748800-47750600	Enhancers	NHDF-Ad	bronchial
13	chr13:47749000-47749400	Enhancers	Muscle Satellite Cultured Cells	--
14	chr13:47749000-47750400	Enhancers	NHLF	lung
15	chr13:47749200-47750200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr13:47749200-47750200	Enhancers	Fetal Lung	lung
17	chr13:47749200-47750400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr13:47749200-47750400	Enhancers	NH-A	brain
19	chr13:47749200-47750400	Enhancers	Osteobl	bone
20	chr13:47749200-47752000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr13:47749200-47752200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr13:47749400-47750000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr13:47749400-47750200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr13:47749400-47750200	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr13:47749400-47750200	Enhancers	HSMM	muscle
26	chr13:47749400-47750400	Enhancers	Hela-S3	cervix
27	chr13:47749400-47750400	Enhancers	HMEC	breast
28	chr13:47749400-47751800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr13:47749600-47750000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr13:47749600-47750200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr13:47749600-47750200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr13:47749600-47750200	Enhancers	HSMMtube	muscle
33	chr13:47749600-47750400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr13:47749600-47751200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr13:47749800-47750200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr13:47749800-47750200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr13:47750000-47750400	Enhancers	Muscle Satellite Cultured Cells	--
38	chr13:47750200-47751600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr13:47750200-47757800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr13:47750600-47753200	Weak transcription	NHDF-Ad	bronchial
41	chr13:47752400-47752600	Enhancers	K562	blood
42	chr13:47752600-47758000	Weak transcription	K562	blood
43	chr13:47753200-47753800	Enhancers	NHDF-Ad	bronchial
44	chr13:47753800-47762600	Weak transcription	NHDF-Ad	bronchial
45	chr13:47756200-47756600	Enhancers	Fetal Lung	lung
46	chr13:47756600-47757800	Weak transcription	Fetal Lung	lung
47	chr13:47757800-47758000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
48	chr13:47757800-47758000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
49	chr13:47757800-47758000	ZNF genes & repeats	Primary T cells from cord blood	blood
50	chr13:47757800-47758000	Flanking Bivalent TSS/Enh	Pancreatic Islets	Pancreatic Islet

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