Variant report

Variant	nsv433216
Chromosome Location	chr3:83128414-83207518
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:83141093..83143297-chr3:83147179..83148923,2	MCF-7	breast:
2	chr3:83141093..83143297-chr3:83147179..83148923,2	MCF-7	breast:
3	chr3:83118932..83120993-chr3:83127067..83129361,2	MCF-7	breast:

Extended variants
information (count: 314 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:314 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145280648	chr3:83138709-83138710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112266030	chr3:83138739-83138740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546963210	chr3:83138741-83138742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570058925	chr3:83138750-83138751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs398082242	chr3:83138751-83138752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs57953557	chr3:83138752-83138753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573232857	chr3:83138787-83138788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566573440	chr3:83138790-83138791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535320592	chr3:83138839-83138840	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555253579	chr3:83138910-83138911	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191989520	chr3:83138931-83138932	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546422034	chr3:83138946-83138947	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs557700561	chr3:83138996-83138997	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149541921	chr3:83139019-83139020	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540000240	chr3:83139023-83139024	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs117812600	chr3:83139044-83139045	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573687101	chr3:83139105-83139106	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs376145856	chr3:83139181-83139182	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs144001493	chr3:83139203-83139204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532510826	chr3:83139226-83139227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531260240	chr3:83139246-83139247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551138657	chr3:83139349-83139350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564565085	chr3:83139365-83139366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533466148	chr3:83139390-83139391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546783873	chr3:83139436-83139437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566490084	chr3:83139444-83139445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182666039	chr3:83139505-83139506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548991397	chr3:83139509-83139510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs62262717	chr3:83139513-83139514	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs537789436	chr3:83139522-83139523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186039290	chr3:83139563-83139564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561934994	chr3:83139578-83139579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115665529	chr3:83139581-83139582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573998072	chr3:83139600-83139601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs74282385	chr3:83139610-83139611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148249349	chr3:83139625-83139626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542624602	chr3:83139683-83139684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532881752	chr3:83139704-83139705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7632969	chr3:83139725-83139726	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs575999690	chr3:83139739-83139740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189823327	chr3:83139788-83139789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10212514	chr3:83139825-83139826	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs141868838	chr3:83139843-83139844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182465430	chr3:83139862-83139863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570121518	chr3:83139908-83139909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187159531	chr3:83139928-83139929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540689172	chr3:83139969-83139970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147271794	chr3:83140006-83140007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533745942	chr3:83140030-83140031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546920049	chr3:83140150-83140151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Splenic marginal zone lymphoma	21957467	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
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Autism	20808228	CNVD
Urothelial carcinoma	21177765	CNVD
Neurodevelopmental disorder	22521361	CNVD
Medulloblastoma	16783165	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:83138600-83138800	Weak transcription	Pancreas	Pancrea
2	chr3:83138800-83139200	Genic enhancers	Pancreas	Pancrea
3	chr3:83139200-83142000	Weak transcription	Pancreas	Pancrea
4	chr3:83140800-83142200	Enhancers	Liver	Liver
5	chr3:83141600-83142600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr3:83142200-83142600	Flanking Active TSS	Liver	Liver
7	chr3:83142200-83143200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr3:83142600-83142800	Enhancers	Liver	Liver
9	chr3:83145600-83145800	Enhancers	Pancreas	Pancrea
10	chr3:83163000-83163200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr3:83163200-83164200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr3:83164200-83165400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr3:83193600-83194200	Enhancers	Dnd41	blood
14	chr3:83200000-83200400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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