Variant report

Variant	nsv967115
Chromosome Location	chr3:75900941-75918070
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:143540009..143542435-chr3:75911879..75914281,2	MCF-7	breast:

Extended variants
information (count: 275 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:275 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77408041	chr3:75908006-75908007	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs368206529	chr3:75908010-75908011	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs112870948	chr3:75908013-75908014	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs185820142	chr3:75908023-75908024	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs79570669	chr3:75908026-75908027	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs201864210	chr3:75908041-75908042	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs375061656	chr3:75908047-75908048	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs79657503	chr3:75908096-75908097	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs62267827	chr3:75908100-75908101	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs531895242	chr3:75908102-75908103	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs201632588	chr3:75908103-75908104	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs112581885	chr3:75908119-75908120	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs550176812	chr3:75908167-75908168	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs75456130	chr3:75908170-75908171	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs80071730	chr3:75908182-75908183	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs571278086	chr3:75908196-75908197	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs538762558	chr3:75908201-75908202	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs77253124	chr3:75908202-75908203	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs201851821	chr3:75908248-75908249	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs200127876	chr3:75908249-75908250	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs74729423	chr3:75908258-75908259	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs75183910	chr3:75908270-75908271	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs565539625	chr3:75908275-75908276	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs375459072	chr3:75908276-75908277	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs369397909	chr3:75908297-75908298	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs373133160	chr3:75908304-75908305	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs377407767	chr3:75908313-75908314	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs369253042	chr3:75908333-75908334	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs139400581	chr3:75908385-75908386	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs373434665	chr3:75908386-75908387	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs376081958	chr3:75908391-75908392	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs370458604	chr3:75908395-75908396	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs557584958	chr3:75912003-75912004	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs373965995	chr3:75912009-75912010	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs77985425	chr3:75912035-75912036	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs74347608	chr3:75912043-75912044	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs370263503	chr3:75912055-75912056	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs576005624	chr3:75912063-75912064	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs78267766	chr3:75912072-75912073	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs546257842	chr3:75912084-75912085	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs200089830	chr3:75912118-75912119	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs72900758	chr3:75912159-75912160	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs75163668	chr3:75912175-75912176	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs573401127	chr3:75912180-75912181	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs201236533	chr3:75912210-75912211	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs376047735	chr3:75912226-75912227	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs540691307	chr3:75912230-75912231	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs569875001	chr3:75912231-75912232	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs369587381	chr3:75912236-75912237	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs375418826	chr3:75912250-75912251	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:75908000-75908400	ZNF genes & repeats	Fetal Brain Male	brain
2	chr3:75908000-75908400	Active TSS	Fetal Heart	heart
3	chr3:75912000-75913400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr3:75912200-75912800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr3:75912800-75914600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr3:75914600-75914800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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