Variant report

Variant	nsv1045552
Chromosome Location	chr13:38088609-38115110
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	chr13:37575595..37577181-chr13:38087888..38090592,2	K562	blood:
2	chr13:38102650..38103577-chr2:89203042..89203932,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EXOSC8-2	chr13:38109077-38109101	XLOC_010349
2	lnc-EXOSC8-2	chr13:38109952-38109988	XLOC_010349

Variant related genes	Relation type
ENSG00000120699	chromatin interactions

Extended variants
information (count: 767 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:767 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9576286	chr13:38088609-38088610	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs148339104	chr13:38088610-38088611	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs187408570	chr13:38088645-38088646	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs191826561	chr13:38088651-38088652	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs141587916	chr13:38088656-38088657	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs182138164	chr13:38088697-38088698	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs542807137	chr13:38088701-38088702	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs559473771	chr13:38088706-38088707	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs556118374	chr13:38088770-38088771	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs563694506	chr13:38088773-38088774	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs186736588	chr13:38088806-38088807	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs962465	chr13:38088808-38088809	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs150473846	chr13:38088812-38088813	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs190348507	chr13:38088817-38088818	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs371186716	chr13:38088840-38088841	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs549783443	chr13:38088860-38088861	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs60778153	chr13:38088878-38088879	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs535592000	chr13:38088916-38088917	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs962464	chr13:38088921-38088922	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs565842463	chr13:38088926-38088927	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs534829972	chr13:38088935-38088936	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs9532072	chr13:38088937-38088938	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs562083523	chr13:38088973-38088974	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs544618493	chr13:38089030-38089031	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs529386755	chr13:38089057-38089058	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs543441761	chr13:38089067-38089068	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs557370071	chr13:38089083-38089084	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs79326666	chr13:38089095-38089096	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs542670428	chr13:38089150-38089151	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs962463	chr13:38089156-38089157	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs79190858	chr13:38089159-38089160	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs962462	chr13:38089171-38089172	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs376397068	chr13:38089175-38089176	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs112080412	chr13:38089188-38089189	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs551675215	chr13:38089262-38089263	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs34642844	chr13:38089281-38089282	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs182609409	chr13:38089292-38089293	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs200007086	chr13:38089340-38089341	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs565424586	chr13:38089342-38089343	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs76423672	chr13:38089349-38089350	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs566678422	chr13:38089354-38089355	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs549508507	chr13:38089362-38089363	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs563229991	chr13:38089368-38089369	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs138532226	chr13:38089372-38089373	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs374210361	chr13:38089376-38089377	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs143864137	chr13:38089443-38089444	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs533311727	chr13:38089529-38089530	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs187029429	chr13:38089548-38089549	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs551592029	chr13:38089595-38089596	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs34897151	chr13:38089621-38089622	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	18698080	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	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
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	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
Hodgkin''s lymphoma	18641027	CNVD
Prostate cancer	16573809	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
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Prostate cancer	21965145	CNVD
Hirschsprung''s Disease	21712996	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Monoclonal gammopathy of undetermined significance	19135901	CNVD
Prostate cancer	19242612	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
Colorectal cancer	21645411	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Melanoma	18172304	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38089400-38090000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr13:38089600-38090000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr13:38098400-38099000	Enhancers	NHDF-Ad	bronchial
4	chr13:38098600-38098800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr13:38098600-38099000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr13:38098600-38099000	Enhancers	NHEK	skin
7	chr13:38098800-38100800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr13:38099000-38100200	Weak transcription	NHDF-Ad	bronchial
9	chr13:38100000-38100200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr13:38100000-38103800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr13:38100200-38101200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr13:38100200-38102400	Enhancers	NHDF-Ad	bronchial
13	chr13:38100400-38102600	Enhancers	Osteobl	bone
14	chr13:38100600-38101400	Enhancers	NHLF	lung
15	chr13:38100600-38102400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr13:38100800-38102000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr13:38101200-38102400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr13:38102000-38104000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr13:38102400-38105200	Weak transcription	NHDF-Ad	bronchial
20	chr13:38102600-38103400	Weak transcription	Osteobl	bone
21	chr13:38103400-38103600	Enhancers	Osteobl	bone
22	chr13:38103600-38104200	Weak transcription	Osteobl	bone
23	chr13:38103600-38104400	Enhancers	Fetal Muscle Leg	muscle
24	chr13:38103800-38104200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr13:38104000-38104400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr13:38104200-38104400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr13:38104200-38104400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr13:38104200-38104600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr13:38104200-38105000	Enhancers	Osteobl	bone
30	chr13:38104400-38105400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr13:38104400-38108400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr13:38104600-38105000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr13:38105000-38105800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr13:38105000-38107400	Weak transcription	Osteobl	bone
35	chr13:38105000-38107800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr13:38105200-38105800	ZNF genes & repeats	NHDF-Ad	bronchial
37	chr13:38105400-38105600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr13:38105400-38105800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr13:38105600-38115000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr13:38105800-38106800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr13:38105800-38107000	Weak transcription	NHDF-Ad	bronchial
42	chr13:38105800-38108400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr13:38106800-38109200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr13:38107400-38109200	Enhancers	Osteobl	bone
45	chr13:38107600-38108000	Weak transcription	NHDF-Ad	bronchial
46	chr13:38107600-38108600	Enhancers	Muscle Satellite Cultured Cells	--
47	chr13:38107800-38108600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr13:38108000-38108400	Enhancers	NHDF-Ad	bronchial
49	chr13:38108000-38109200	Enhancers	NH-A	brain
50	chr13:38108200-38108400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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