Variant report

Variant	nsv980064
Chromosome Location	chr3:85795339-85805553
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	chr3:85801802..85803723-chr3:85806304..85808705,2	MCF-7	breast:
2	chr3:85801276..85804011-chr3:85805861..85807546,2	MCF-7	breast:

Extended variants
information (count: 337 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:337 , 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	rs563158241	chr3:85795879-85795880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs573533125	chr3:85795897-85795898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545816668	chr3:85795923-85795924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs377745873	chr3:85795949-85795950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs370696795	chr3:85796007-85796008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557555850	chr3:85796009-85796010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs576131704	chr3:85796012-85796013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543152646	chr3:85796039-85796040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs75654274	chr3:85796089-85796090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529535640	chr3:85796090-85796091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192092927	chr3:85796126-85796127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs560125865	chr3:85796151-85796152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs183985850	chr3:85796236-85796237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12497036	chr3:85796312-85796313	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs569953583	chr3:85796321-85796322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559066325	chr3:85796325-85796326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530994874	chr3:85796386-85796387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549081032	chr3:85796394-85796395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567886367	chr3:85796396-85796397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187681877	chr3:85796426-85796427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145431508	chr3:85796444-85796445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566003055	chr3:85796471-85796472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539057294	chr3:85796479-85796480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557687086	chr3:85796509-85796510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73845632	chr3:85796522-85796523	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs543517848	chr3:85796566-85796567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191502235	chr3:85796573-85796574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34162304	chr3:85796580-85796581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182133399	chr3:85796581-85796582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376347844	chr3:85796590-85796591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115448582	chr3:85796623-85796624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs578161576	chr3:85796703-85796704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545387838	chr3:85796734-85796735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187221966	chr3:85796775-85796776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs6788960	chr3:85796781-85796782	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs370733723	chr3:85796940-85796941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191632293	chr3:85797031-85797032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561079440	chr3:85797050-85797051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528062621	chr3:85797086-85797087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531650088	chr3:85797091-85797092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs1448610	chr3:85797093-85797094	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs185362847	chr3:85797199-85797200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs35183021	chr3:85797268-85797269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs141454905	chr3:85797300-85797301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs56101762	chr3:85797332-85797333	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs569612909	chr3:85797358-85797359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537081690	chr3:85797361-85797362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555496050	chr3:85797364-85797365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190210145	chr3:85797402-85797403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs59320041	chr3:85797441-85797442	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
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	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
Lung squamous cell carcinoma	22363434	CNVD
Prostate cancer	21307934	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:85795800-85796200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr3:85796200-85799800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr3:85799800-85800000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr3:85801200-85815000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr3:85804800-85805000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr3:85804800-85805600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr3:85805000-85810000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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