Variant report

Variant	nsv971333
Chromosome Location	chr8:87028484-87029413
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-REXO1L2P-12	chr8:87029048-87029355	NONHSAT127544

Extended variants
information (count: 46 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183619067	chr8:87028491-87028492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs564474397	chr8:87028538-87028539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533036399	chr8:87028543-87028544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565514095	chr8:87028544-87028545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550087017	chr8:87028566-87028567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569745542	chr8:87028574-87028575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529111602	chr8:87028635-87028636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187332127	chr8:87028642-87028643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs35123666	chr8:87028656-87028657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371991241	chr8:87028666-87028667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565411679	chr8:87028698-87028699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563200648	chr8:87028707-87028708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577195526	chr8:87028712-87028713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557293246	chr8:87028749-87028750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539734118	chr8:87028755-87028756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34185114	chr8:87028796-87028797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376790081	chr8:87028859-87028860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs539741846	chr8:87028860-87028861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556846201	chr8:87028873-87028874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553432422	chr8:87028874-87028875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577658094	chr8:87028897-87028898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544824796	chr8:87028902-87028903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs191619398	chr8:87028956-87028957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs541545213	chr8:87029001-87029002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs564312710	chr8:87029009-87029010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs144783014	chr8:87029010-87029011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533408069	chr8:87029011-87029012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566857024	chr8:87029016-87029017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543329204	chr8:87029024-87029025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs111429917	chr8:87029025-87029026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529187145	chr8:87029057-87029058	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs548724403	chr8:87029069-87029070	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs565551589	chr8:87029073-87029074	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs73269312	chr8:87029093-87029094	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs118105206	chr8:87029156-87029157	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs285409	chr8:87029176-87029177	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs537084416	chr8:87029217-87029218	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs550322228	chr8:87029225-87029226	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs142888563	chr8:87029253-87029254	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs117352155	chr8:87029281-87029282	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs555957055	chr8:87029314-87029315	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs116770314	chr8:87029319-87029320	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs535116655	chr8:87029322-87029323	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs558257519	chr8:87029356-87029357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577941787	chr8:87029359-87029360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543762454	chr8:87029389-87029390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Autism	20841430	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	20409316	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87019600-87032200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:87020400-87029600	Weak transcription	Brain Anterior Caudate	brain
3	chr8:87020800-87029000	Weak transcription	Brain Substantia Nigra	brain
4	chr8:87024200-87029200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr8:87024600-87029800	Weak transcription	Brain Angular Gyrus	brain
6	chr8:87024800-87029200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr8:87024800-87029600	Weak transcription	Brain Hippocampus Middle	brain
8	chr8:87026600-87031000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:87028800-87029200	Enhancers	Fetal Brain Female	brain
10	chr8:87028800-87030800	Enhancers	Brain Germinal Matrix	brain
11	chr8:87029000-87030400	Enhancers	Brain Substantia Nigra	brain
12	chr8:87029000-87030800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr8:87029200-87029600	Weak transcription	Fetal Brain Female	brain
14	chr8:87029200-87030200	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr8:87029200-87030200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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