Variant report

Variant	nsv965258
Chromosome Location	chr3:75889552-75892016
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 165 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:165 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186181570	chr3:75889564-75889565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577274958	chr3:75889573-75889574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544173723	chr3:75889574-75889575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564307442	chr3:75889587-75889588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs113460471	chr3:75889589-75889590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs143549528	chr3:75889599-75889600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs199499607	chr3:75889623-75889624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546961555	chr3:75889638-75889639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562444295	chr3:75889642-75889643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142508780	chr3:75889678-75889679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs371955063	chr3:75889690-75889691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201504094	chr3:75889695-75889696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs33927261	chr3:75889710-75889711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529269133	chr3:75889722-75889723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550905326	chr3:75889735-75889736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371163955	chr3:75889770-75889771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569280703	chr3:75889774-75889775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs79538763	chr3:75889777-75889778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539903895	chr3:75889779-75889780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188116794	chr3:75889817-75889818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191807014	chr3:75889829-75889830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551925345	chr3:75889835-75889836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190240961	chr3:75889851-75889852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144441918	chr3:75889908-75889909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376836771	chr3:75889927-75889928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555366060	chr3:75889939-75889940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573927671	chr3:75889948-75889949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537755142	chr3:75889949-75889950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4974319	chr3:75889952-75889953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369863578	chr3:75889970-75889971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577234422	chr3:75889976-75889977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373723647	chr3:75889993-75889994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376695210	chr3:75889997-75889998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529254718	chr3:75889999-75890000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544677832	chr3:75890037-75890038	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs553480767	chr3:75890060-75890061	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs75769389	chr3:75890100-75890101	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs76202970	chr3:75890121-75890122	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs377332293	chr3:75890142-75890143	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs181713303	chr3:75890154-75890155	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs562146767	chr3:75890166-75890167	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs146127380	chr3:75890179-75890180	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs544592385	chr3:75890204-75890205	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs202043355	chr3:75890231-75890232	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs72900731	chr3:75890233-75890234	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs201208240	chr3:75890265-75890266	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs202107499	chr3:75890318-75890319	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs143697461	chr3:75890320-75890321	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs201861219	chr3:75890343-75890344	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs76971534	chr3:75890345-75890346	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
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
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
Acute myeloid leukemia	21251322	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
Autism	22102821	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Ovarian cancer	21720365	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21858162	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Melanoma	20877625	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:75888800-75889600	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr3:75889400-75890000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:75890000-75890400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:75890400-75891800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr3:75891800-75892000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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