Variant report

Variant	nsv3902
Chromosome Location	chr3:86808374-86821132
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	chr3:86811955-86812025	l_2406_chr3:86790895-86851827_testes

Extended variants
information (count: 65 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548911570	chr3:86809805-86809806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs563704832	chr3:86809811-86809812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530796620	chr3:86809863-86809864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550172925	chr3:86809892-86809893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563594752	chr3:86809945-86809946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190618743	chr3:86809969-86809970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs143867259	chr3:86810025-86810026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529090710	chr3:86810032-86810033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559052067	chr3:86810063-86810064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547153443	chr3:86810064-86810065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532659636	chr3:86810074-86810075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs146854668	chr3:86810097-86810098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551045617	chr3:86810121-86810122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs115099105	chr3:86810136-86810137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs13083977	chr3:86810152-86810153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182289620	chr3:86810186-86810187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556025896	chr3:86810194-86810195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185478761	chr3:86812001-86812002	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs73844285	chr3:86813843-86813844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs558693867	chr3:86813844-86813845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs150561600	chr3:86813921-86813922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs183588303	chr3:86813926-86813927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs187706717	chr3:86813950-86813951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556151015	chr3:86813975-86813976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs574336978	chr3:86813995-86813996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs12492726	chr3:86813997-86813998	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs560410654	chr3:86814014-86814015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs527884177	chr3:86814034-86814035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs545950908	chr3:86814038-86814039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs139309919	chr3:86814046-86814047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs193229553	chr3:86814116-86814117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549987285	chr3:86814234-86814235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561740540	chr3:86814292-86814293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs529300399	chr3:86814295-86814296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548504135	chr3:86814301-86814302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs149578646	chr3:86814307-86814308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs533992810	chr3:86814337-86814338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs569353577	chr3:86814412-86814413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs558756971	chr3:86814419-86814420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs12493521	chr3:86814420-86814421	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs72910443	chr3:86814476-86814477	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs555977936	chr3:86814484-86814485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs574421813	chr3:86814522-86814523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs541378017	chr3:86814536-86814537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs554053408	chr3:86814537-86814538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs144243283	chr3:86814600-86814601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs72910450	chr3:86818194-86818195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs547301148	chr3:86818210-86818211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs571789683	chr3:86818224-86818225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs539222910	chr3:86818230-86818231	Enhancers	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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:86809800-86810200	Enhancers	Hela-S3	cervix
2	chr3:86813800-86814600	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr3:86814400-86814600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr3:86818000-86818400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr3:86820800-86821200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:86820800-86821400	Active TSS	Spleen	Spleen
7	chr3:86821000-86821200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr3:86821000-86822200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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