Variant report

Variant	nsv979925
Chromosome Location	chr3:75887437-75892016
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 200 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:200 , 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	rs573126119	chr3:75888822-75888823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540539904	chr3:75888876-75888877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561489525	chr3:75888877-75888878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs536279666	chr3:75888883-75888884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs543952040	chr3:75889008-75889009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs560067066	chr3:75889020-75889021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs77817776	chr3:75889075-75889076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200407072	chr3:75889083-75889084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs201084035	chr3:75889088-75889089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs143190388	chr3:75889104-75889105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572998732	chr3:75889121-75889122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552402867	chr3:75889137-75889138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs79465862	chr3:75889160-75889161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528719470	chr3:75889200-75889201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185700024	chr3:75889213-75889214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545191843	chr3:75889266-75889267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140380047	chr3:75889275-75889276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535875549	chr3:75889300-75889301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs112586233	chr3:75889306-75889307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs111292814	chr3:75889311-75889312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs376852536	chr3:75889327-75889328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs550785569	chr3:75889350-75889351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs369171226	chr3:75889365-75889366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs372498568	chr3:75889389-75889390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs190384014	chr3:75889405-75889406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs200305529	chr3:75889409-75889410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs201389521	chr3:75889414-75889415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs199726583	chr3:75889432-75889433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs191452273	chr3:75889441-75889442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs183582263	chr3:75889457-75889458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573086658	chr3:75889482-75889483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs188662820	chr3:75889497-75889498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs114837140	chr3:75889498-75889499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs573543683	chr3:75889512-75889513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs181244291	chr3:75889522-75889523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs186181570	chr3:75889564-75889565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs577274958	chr3:75889573-75889574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544173723	chr3:75889574-75889575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs564307442	chr3:75889587-75889588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs113460471	chr3:75889589-75889590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs143549528	chr3:75889599-75889600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs199499607	chr3:75889623-75889624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546961555	chr3:75889638-75889639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562444295	chr3:75889642-75889643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142508780	chr3:75889678-75889679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371955063	chr3:75889690-75889691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201504094	chr3:75889695-75889696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs33927261	chr3:75889710-75889711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529269133	chr3:75889722-75889723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550905326	chr3:75889735-75889736	Weak transcription	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:6 , 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	chr3:75889200-75889400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:75889400-75890000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:75890000-75890400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr3:75890400-75891800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr3:75891800-75892000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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