Variant report

Variant	nsv460742
Chromosome Location	chr3:83852918-83907751
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	chr3:83903378..83905184-chr3:83905996..83908486,2	K562	blood:
2	chr3:83903378..83905184-chr3:83905996..83908486,2	K562	blood:

Extended variants
information (count: 856 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:856 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578036867	chr3:83862025-83862026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs112319235	chr3:83862032-83862033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182301448	chr3:83862070-83862071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551340123	chr3:83862081-83862082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs375317720	chr3:83862093-83862094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557097453	chr3:83862122-83862123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548692108	chr3:83862155-83862156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs113940908	chr3:83862159-83862160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187410942	chr3:83862185-83862186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs368947865	chr3:83862186-83862187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556852013	chr3:83870206-83870207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540093358	chr3:83870217-83870218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs111647847	chr3:83870275-83870276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs558417110	chr3:83870281-83870282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs576771906	chr3:83870293-83870294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115077844	chr3:83870306-83870307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562918221	chr3:83870320-83870321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs111998086	chr3:83870390-83870391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185335006	chr3:83870435-83870436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs542314668	chr3:83870482-83870483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs560630051	chr3:83870500-83870501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs527879706	chr3:83870516-83870517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552850561	chr3:83870567-83870568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535954777	chr3:83876415-83876416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528946006	chr3:83876472-83876473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs560165487	chr3:83876505-83876506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs547950817	chr3:83876521-83876522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs145335176	chr3:83876540-83876541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs149199748	chr3:83876551-83876552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs143079098	chr3:83876567-83876568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs558804225	chr3:83876574-83876575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs548772947	chr3:83876660-83876661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs138769194	chr3:83876670-83876671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs538223135	chr3:83876717-83876718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs113207458	chr3:83876745-83876746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs372174068	chr3:83876771-83876772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs574959059	chr3:83876774-83876775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs542346385	chr3:83876775-83876776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs560630035	chr3:83876786-83876787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572669657	chr3:83876813-83876814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs368173812	chr3:83876830-83876831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs74525755	chr3:83876850-83876851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs564781658	chr3:83876957-83876958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs77128725	chr3:83881208-83881209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs13059952	chr3:83881213-83881214	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs573589757	chr3:83881223-83881224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549798442	chr3:83881282-83881283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374352143	chr3:83881478-83881479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554500623	chr3:83881544-83881545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190437743	chr3:83881555-83881556	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
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Medulloblastoma	16783165	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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:83862000-83862200	Enhancers	Spleen	Spleen
2	chr3:83870200-83870600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr3:83876400-83877000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr3:83881200-83883400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:83883400-83883800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:83883800-83897800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:83884400-83885000	Active TSS	Gastric	stomach
8	chr3:83892800-83893200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:83898400-83899000	Enhancers	Muscle Satellite Cultured Cells	--
10	chr3:83898600-83900000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:83900000-83900800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:83900800-83902400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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