Variant report

Variant	nsv980099
Chromosome Location	chr3:84560356-84578917
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 245 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:245 , 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	rs545103379	chr3:84560383-84560384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565405496	chr3:84560397-84560398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539273398	chr3:84560398-84560399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4856531	chr3:84560443-84560444	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs575963891	chr3:84560444-84560445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543339655	chr3:84560483-84560484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143881172	chr3:84560528-84560529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185404757	chr3:84560530-84560531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541374329	chr3:84560548-84560549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370381281	chr3:84560562-84560563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559901500	chr3:84560607-84560608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs527679038	chr3:84560617-84560618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190094298	chr3:84560649-84560650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181694895	chr3:84560667-84560668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187234070	chr3:84560697-84560698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192115450	chr3:84560783-84560784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4856255	chr3:84560784-84560785	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs182296424	chr3:84560820-84560821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148683308	chr3:84560822-84560823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148294376	chr3:84560842-84560843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546962327	chr3:84560859-84560860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565463507	chr3:84560909-84560910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73842771	chr3:84560910-84560911	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs143487946	chr3:84560950-84560951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561109968	chr3:84560986-84560987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551199424	chr3:84560993-84560994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576751448	chr3:84561020-84561021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569745438	chr3:84561021-84561022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9821366	chr3:84561063-84561064	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs563437488	chr3:84561101-84561102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550095336	chr3:84561132-84561133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146713413	chr3:84561147-84561148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs17021581	chr3:84561198-84561199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185488598	chr3:84561234-84561235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553387631	chr3:84561259-84561260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs578174564	chr3:84561260-84561261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545515498	chr3:84561323-84561324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532165084	chr3:84561349-84561350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs9825859	chr3:84561428-84561429	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs189820254	chr3:84561430-84561431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543174685	chr3:84561444-84561445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561447685	chr3:84561446-84561447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528762812	chr3:84561449-84561450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139346406	chr3:84561567-84561568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558911944	chr3:84561583-84561584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532907366	chr3:84561611-84561612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9883856	chr3:84561617-84561618	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs28711150	chr3:84561649-84561650	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs78342346	chr3:84561695-84561696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143691153	chr3:84561711-84561712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Acute lymphoblastic leukemia	18458336	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
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Medulloblastoma	16783165	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
Schizophrenia	23813976	CNVD
Lung squamous cell carcinoma	22363434	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:84558200-84562600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:84571600-84571800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:84571800-84572200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:84572200-84572400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr3:84572600-84573000	Active TSS	Fetal Heart	heart
6	chr3:84574400-84575000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr3:84575000-84575400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr3:84575400-84576600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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