Variant report

Variant	nsv979774
Chromosome Location	chr3:85406913-85408920
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	chr3:85401815..85404016-chr3:85405205..85407101,2	K562	blood:

Extended variants
information (count: 72 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9809258	chr3:85406931-85406932	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs11705775	chr3:85406938-85406939	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs4856270	chr3:85407057-85407058	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs116294909	chr3:85407089-85407090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537865618	chr3:85407093-85407094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549781820	chr3:85407094-85407095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144767364	chr3:85407120-85407121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535732671	chr3:85407126-85407127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553732168	chr3:85407133-85407134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572214950	chr3:85407142-85407143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146711853	chr3:85407146-85407147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190916554	chr3:85407161-85407162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs60195286	chr3:85407172-85407173	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs542268144	chr3:85407203-85407204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543442431	chr3:85407210-85407211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs561735064	chr3:85407230-85407231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs115157847	chr3:85407251-85407252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546424135	chr3:85407268-85407269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs541712496	chr3:85407286-85407287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs13320904	chr3:85407295-85407296	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs116007473	chr3:85407312-85407313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551658158	chr3:85407324-85407325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs564198491	chr3:85407341-85407342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182823614	chr3:85407343-85407344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140346361	chr3:85407344-85407345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs186535613	chr3:85407374-85407375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs568062066	chr3:85407379-85407380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs143272233	chr3:85407481-85407482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs547684313	chr3:85407493-85407494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs148330965	chr3:85407513-85407514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs539647909	chr3:85407524-85407525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs11127885	chr3:85407529-85407530	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs376783196	chr3:85407537-85407538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs12634949	chr3:85407544-85407545	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs72615721	chr3:85407546-85407547	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs141404046	chr3:85407615-85407616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs115195206	chr3:85407657-85407658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs543976221	chr3:85407661-85407662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs541034174	chr3:85407687-85407688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553653626	chr3:85407768-85407769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs191246091	chr3:85407825-85407826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs183482435	chr3:85407838-85407839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs115604422	chr3:85407893-85407894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs187249507	chr3:85407898-85407899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs9833972	chr3:85407904-85407905	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs192584378	chr3:85407905-85407906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546256445	chr3:85407926-85407927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528903857	chr3:85407941-85407942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs150412392	chr3:85407947-85407948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs9814516	chr3:85407980-85407981	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:80)

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
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
Autism	22102821	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	chr3:85404600-85410400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr3:85405000-85409800	Weak transcription	Brain Substantia Nigra	brain
3	chr3:85405800-85407200	Weak transcription	Brain Hippocampus Middle	brain
4	chr3:85405800-85409800	Weak transcription	Brain Angular Gyrus	brain
5	chr3:85406000-85409800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr3:85407200-85408400	Enhancers	Brain Hippocampus Middle	brain
7	chr3:85408400-85410200	Weak transcription	Brain Hippocampus Middle	brain

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