Variant report

Variant	nsv525501
Chromosome Location	chr3:109650785-109654075
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 128 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:128 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs672489	chr3:109650785-109650786	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs569421474	chr3:109650797-109650798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs145603620	chr3:109650812-109650813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs3850565	chr3:109650920-109650921	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs671574	chr3:109650931-109650932	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs9863376	chr3:109650932-109650933	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs553413261	chr3:109650936-109650937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs148881271	chr3:109650954-109650955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs671520	chr3:109650976-109650977	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs562733310	chr3:109651112-109651113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555531020	chr3:109651155-109651156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545324352	chr3:109651171-109651172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564467528	chr3:109651180-109651181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs593904	chr3:109651181-109651182	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs56020633	chr3:109651183-109651184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs547024414	chr3:109651205-109651206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs181878719	chr3:109651239-109651240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529409238	chr3:109651254-109651255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs377046662	chr3:109651257-109651258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs2700258	chr3:109651259-109651260	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs111276931	chr3:109651280-109651281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531909484	chr3:109651333-109651334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs3906053	chr3:109651355-109651356	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs571618219	chr3:109651428-109651429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201344228	chr3:109651430-109651431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538811526	chr3:109651439-109651440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533512509	chr3:109651443-109651444	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs71129081	chr3:109651456-109651457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201947864	chr3:109651469-109651470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553374848	chr3:109651544-109651545	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185261951	chr3:109651565-109651566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536384240	chr3:109651568-109651569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374617339	chr3:109651575-109651576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs595703	chr3:109651603-109651604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs595732	chr3:109651612-109651613	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs545224699	chr3:109651619-109651620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558848457	chr3:109651637-109651638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374832675	chr3:109651649-109651650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115142885	chr3:109651693-109651694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540602772	chr3:109651697-109651698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560562376	chr3:109651704-109651705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181946087	chr3:109651741-109651742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs657834	chr3:109651753-109651754	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs143525262	chr3:109651760-109651761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs115775562	chr3:109651776-109651777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186317751	chr3:109651777-109651778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11350686	chr3:109651818-109651819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs398091725	chr3:109651819-109651820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189944887	chr3:109651867-109651868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368618549	chr3:109651895-109651896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Multiple myeloma	17550852	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:109647000-109656000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr3:109647200-109651000	Weak transcription	NHEK	skin
3	chr3:109649800-109651400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:109650000-109651000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr3:109650600-109651400	Enhancers	A549	lung
6	chr3:109651000-109651200	Enhancers	Muscle Satellite Cultured Cells	--
7	chr3:109651000-109651200	Enhancers	NHEK	skin
8	chr3:109651200-109651400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr3:109651400-109651600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr3:109651400-109654800	Weak transcription	A549	lung
11	chr3:109652800-109653800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:109653200-109653800	Enhancers	Brain Germinal Matrix	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links