Variant report

Variant	esv3509075
Chromosome Location	chr13:38046252-38051150
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EXOSC8-5	chr13:38050866-38051088	l_812_chr13:38039862-38051088_testes
2	lnc-EXOSC8-5	chr13:38050866-38051131	NONHSAT033247
3	lnc-EXOSC8-5	chr13:38048795-38048839	l_812_chr13:38039862-38051088_testes
4	lnc-EXOSC8-5	chr13:38049742-38049847	NONHSAT033247
5	lnc-EXOSC8-5	chr13:38048777-38048839	NONHSAT033247

Extended variants
information (count: 219 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:219 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574081463	chr13:38046258-38046259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537990720	chr13:38046287-38046288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192765694	chr13:38046290-38046291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573256750	chr13:38046293-38046294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545184388	chr13:38046333-38046334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs151249323	chr13:38046348-38046349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556302007	chr13:38046352-38046353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370977949	chr13:38046374-38046375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544499904	chr13:38046403-38046404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139240369	chr13:38046424-38046425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530335415	chr13:38046436-38046437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs386770055	chr13:38046439-38046440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs9594212	chr13:38046440-38046441	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs528155569	chr13:38046448-38046449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551222878	chr13:38046479-38046480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571399310	chr13:38046481-38046482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536897399	chr13:38046493-38046494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs150014373	chr13:38046497-38046498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368532067	chr13:38046540-38046541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567529356	chr13:38046547-38046548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187852171	chr13:38046551-38046552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553366757	chr13:38046567-38046568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191521905	chr13:38046575-38046576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183599348	chr13:38046581-38046582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539099708	chr13:38046586-38046587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560118550	chr13:38046620-38046621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558829709	chr13:38046636-38046637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575783566	chr13:38046641-38046642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189496723	chr13:38046642-38046643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554746009	chr13:38046662-38046663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143846135	chr13:38046680-38046681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs60267210	chr13:38046707-38046708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540540496	chr13:38046708-38046709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs386770056	chr13:38046711-38046712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs58276962	chr13:38046713-38046714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs386770057	chr13:38046719-38046720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs9532060	chr13:38046720-38046721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374118910	chr13:38046729-38046730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs61485180	chr13:38046742-38046743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543533543	chr13:38046744-38046745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs9532061	chr13:38046785-38046786	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs550752078	chr13:38046801-38046802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567494403	chr13:38046824-38046825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs74045954	chr13:38046834-38046835	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs546614240	chr13:38046836-38046837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9547900	chr13:38046881-38046882	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs538705939	chr13:38046889-38046890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs17055781	chr13:38046965-38046966	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs527879738	chr13:38046978-38046979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79451148	chr13:38046980-38046981	Weak transcription	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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38046000-38049200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr13:38048400-38049000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr13:38048600-38049800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr13:38048800-38049800	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr13:38048800-38051200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr13:38049000-38049400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr13:38049000-38049800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr13:38049000-38049800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr13:38049000-38049800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr13:38049200-38049400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr13:38049200-38049600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr13:38049200-38049600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr13:38049200-38051200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr13:38049400-38049600	Enhancers	Colon Smooth Muscle	Colon
15	chr13:38049400-38049800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr13:38049400-38051000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr13:38049400-38051400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr13:38049400-38051400	Enhancers	NH-A	brain
19	chr13:38049400-38051600	Enhancers	Osteobl	bone
20	chr13:38049400-38051800	Enhancers	NHDF-Ad	bronchial
21	chr13:38049600-38049800	Enhancers	Fetal Lung	lung
22	chr13:38049600-38051600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr13:38049600-38054200	Weak transcription	Colon Smooth Muscle	Colon
24	chr13:38049800-38050800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr13:38049800-38051600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr13:38049800-38053600	Weak transcription	Fetal Lung	lung
27	chr13:38049800-38054000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr13:38050200-38051200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr13:38050200-38051400	Enhancers	HMEC	breast
30	chr13:38050200-38051800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr13:38050400-38051600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr13:38050800-38051400	Enhancers	NHEK	skin
33	chr13:38051000-38051200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr13:38051000-38051400	Enhancers	Stomach Smooth Muscle	stomach
35	chr13:38051000-38051400	Enhancers	NHLF	lung
36	chr13:38051000-38051600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr13:38051000-38051800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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