Variant report

Variant	nsv963268
Chromosome Location	chr3:86850928-86852314
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CHMP2B-4	chr3:86851058-86851827	l_2406_chr3:86790895-86851827_testes

Extended variants
information (count: 57 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529143867	chr3:86850944-86850945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183078011	chr3:86850975-86850976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565867340	chr3:86851000-86851001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs12487818	chr3:86851026-86851027	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs563647958	chr3:86851027-86851028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544536913	chr3:86851029-86851030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557873295	chr3:86851039-86851040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529225379	chr3:86851046-86851047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187009260	chr3:86851058-86851059	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs537067357	chr3:86851059-86851060	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs555367652	chr3:86851068-86851069	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs191854157	chr3:86851072-86851073	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs28553515	chr3:86851108-86851109	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs553330315	chr3:86851153-86851154	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs578110602	chr3:86851159-86851160	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs545198505	chr3:86851221-86851222	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs141085372	chr3:86851227-86851228	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs563461391	chr3:86851261-86851262	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs530877135	chr3:86851305-86851306	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs75174047	chr3:86851311-86851312	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs542618998	chr3:86851318-86851319	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs73137985	chr3:86851374-86851375	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs529223111	chr3:86851387-86851388	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs138788959	chr3:86851392-86851393	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs547662367	chr3:86851416-86851417	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs183574499	chr3:86851442-86851443	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs533130197	chr3:86851443-86851444	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs62258657	chr3:86851456-86851457	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs549480487	chr3:86851472-86851473	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs569784277	chr3:86851483-86851484	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs138578950	chr3:86851493-86851494	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs186746244	chr3:86851510-86851511	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs193225436	chr3:86851538-86851539	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs535040908	chr3:86851549-86851550	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs374831362	chr3:86851704-86851705	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs553607168	chr3:86851715-86851716	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs578165238	chr3:86851716-86851717	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs66467403	chr3:86851759-86851760	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs569499526	chr3:86851779-86851780	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs530499968	chr3:86851795-86851796	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs185613371	chr3:86851846-86851847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs575334446	chr3:86851854-86851855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs190069727	chr3:86851860-86851861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs375505116	chr3:86851927-86851928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531937995	chr3:86851982-86851983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs551826468	chr3:86852010-86852011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12495229	chr3:86852024-86852025	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs540997149	chr3:86852028-86852029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192903270	chr3:86852105-86852106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141173956	chr3:86852170-86852171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	20164920	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:86836600-86864400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:86849000-86852000	Enhancers	NHDF-Ad	bronchial
3	chr3:86849400-86851800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr3:86849800-86851000	Weak transcription	Osteobl	bone
5	chr3:86849800-86852800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr3:86850800-86851600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr3:86850800-86851600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr3:86850800-86852000	Enhancers	HSMM	muscle
9	chr3:86851000-86851600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:86851000-86851800	Enhancers	Osteobl	bone
11	chr3:86852000-86854400	Weak transcription	NHDF-Ad	bronchial

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