Variant report

Variant	nsv455860
Chromosome Location	chr13:38102166-38115110
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	chr13:38102650..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

Extended variants
information (count: 543 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:543 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7990180	chr13:38102166-38102167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs77784420	chr13:38102167-38102168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs12865970	chr13:38102171-38102172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548863338	chr13:38102187-38102188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs565965487	chr13:38102233-38102234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528414293	chr13:38102235-38102236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142570957	chr13:38102236-38102237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs74330230	chr13:38102276-38102277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571339142	chr13:38102299-38102300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186964675	chr13:38102300-38102301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs144799237	chr13:38102301-38102302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs71439728	chr13:38102337-38102338	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs191303215	chr13:38102377-38102378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182622926	chr13:38102400-38102401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs151338049	chr13:38102406-38102407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs17055969	chr13:38102450-38102451	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs17255604	chr13:38102465-38102466	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs559272108	chr13:38102466-38102467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187046525	chr13:38102484-38102485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs140598794	chr13:38102521-38102522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543406055	chr13:38102524-38102525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577968052	chr13:38102708-38102709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs573606301	chr13:38102710-38102711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs79824449	chr13:38102755-38102756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559321551	chr13:38102756-38102757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs528251703	chr13:38102770-38102771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs150404869	chr13:38102807-38102808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569865035	chr13:38102813-38102814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs12429840	chr13:38102814-38102815	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs373270595	chr13:38102859-38102860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs530797923	chr13:38102865-38102866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530823355	chr13:38102899-38102900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs35974614	chr13:38102916-38102917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs9315499	chr13:38102923-38102924	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs570409702	chr13:38102952-38102953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs189937659	chr13:38102958-38102959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs7334289	chr13:38102990-38102991	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs76759374	chr13:38102992-38102993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs546669880	chr13:38103004-38103005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs374254889	chr13:38103017-38103018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs567096962	chr13:38103036-38103037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs138116292	chr13:38103092-38103093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs145037244	chr13:38103113-38103114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs575965096	chr13:38103137-38103138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs7335400	chr13:38103152-38103153	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs535330267	chr13:38103161-38103162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs556726806	chr13:38103168-38103169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs1358995	chr13:38103200-38103201	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs9547927	chr13:38103225-38103226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs559373212	chr13:38103255-38103256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38100000-38103800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr13:38100200-38102400	Enhancers	NHDF-Ad	bronchial
3	chr13:38100400-38102600	Enhancers	Osteobl	bone
4	chr13:38100600-38102400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr13:38101200-38102400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr13:38102000-38104000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr13:38102400-38105200	Weak transcription	NHDF-Ad	bronchial
8	chr13:38102600-38103400	Weak transcription	Osteobl	bone
9	chr13:38103400-38103600	Enhancers	Osteobl	bone
10	chr13:38103600-38104200	Weak transcription	Osteobl	bone
11	chr13:38103600-38104400	Enhancers	Fetal Muscle Leg	muscle
12	chr13:38103800-38104200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr13:38104000-38104400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr13:38104200-38104400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr13:38104200-38104400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr13:38104200-38104600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr13:38104200-38105000	Enhancers	Osteobl	bone
18	chr13:38104400-38105400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr13:38104400-38108400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr13:38104600-38105000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr13:38105000-38105800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr13:38105000-38107400	Weak transcription	Osteobl	bone
23	chr13:38105000-38107800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr13:38105200-38105800	ZNF genes & repeats	NHDF-Ad	bronchial
25	chr13:38105400-38105600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr13:38105400-38105800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr13:38105600-38115000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr13:38105800-38106800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr13:38105800-38107000	Weak transcription	NHDF-Ad	bronchial
30	chr13:38105800-38108400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr13:38106800-38109200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr13:38107400-38109200	Enhancers	Osteobl	bone
33	chr13:38107600-38108000	Weak transcription	NHDF-Ad	bronchial
34	chr13:38107600-38108600	Enhancers	Muscle Satellite Cultured Cells	--
35	chr13:38107800-38108600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr13:38108000-38108400	Enhancers	NHDF-Ad	bronchial
37	chr13:38108000-38109200	Enhancers	NH-A	brain
38	chr13:38108200-38108400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr13:38108400-38108600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr13:38108400-38108600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr13:38108400-38108600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr13:38108400-38108800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr13:38108400-38108800	Enhancers	Fetal Lung	lung
44	chr13:38108400-38108800	Enhancers	NHLF	lung
45	chr13:38108400-38109200	Flanking Active TSS	NHDF-Ad	bronchial
46	chr13:38108600-38108800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr13:38108600-38109000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr13:38108600-38109000	Enhancers	HSMMtube	muscle
49	chr13:38108600-38109200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr13:38108600-38109200	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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