Variant report

Variant	esv12803
Chromosome Location	chr3:146415598-146417349
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs80198289	chr3:146415601-146415602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73865809	chr3:146415605-146415606	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs572982373	chr3:146415633-146415634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs78182484	chr3:146415640-146415641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564928800	chr3:146415654-146415655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530773208	chr3:146415663-146415664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373058592	chr3:146415702-146415703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114227629	chr3:146415736-146415737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs9851037	chr3:146415737-146415738	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs73865810	chr3:146415752-146415753	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs566587730	chr3:146415756-146415757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73160904	chr3:146415767-146415768	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs552689297	chr3:146415808-146415809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs6796901	chr3:146415855-146415856	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs538468039	chr3:146415857-146415858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554943249	chr3:146415871-146415872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189547915	chr3:146415915-146415916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73160905	chr3:146415978-146415979	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs142931633	chr3:146415991-146415992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539399748	chr3:146415993-146415994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74521472	chr3:146416011-146416012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147396249	chr3:146416043-146416044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs78036679	chr3:146416065-146416066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs59521553	chr3:146416094-146416095	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs563681332	chr3:146416129-146416130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544415568	chr3:146416137-146416138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs6797350	chr3:146416147-146416148	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs529950194	chr3:146416200-146416201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549254944	chr3:146416235-146416236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181768588	chr3:146416274-146416275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs11715371	chr3:146416300-146416301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560113420	chr3:146416332-146416333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs78152273	chr3:146416352-146416353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200432317	chr3:146416361-146416362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1848244	chr3:146416369-146416370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186124145	chr3:146416415-146416416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548781281	chr3:146416474-146416475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568722093	chr3:146416500-146416501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552961522	chr3:146416518-146416519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79798158	chr3:146416529-146416530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566766366	chr3:146416530-146416531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566460604	chr3:146416540-146416541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs77346207	chr3:146416603-146416604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs73160906	chr3:146416642-146416643	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs575310992	chr3:146416643-146416644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183650119	chr3:146416646-146416647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574341026	chr3:146416656-146416657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186471573	chr3:146416675-146416676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576073457	chr3:146416715-146416716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375778473	chr3:146416742-146416743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	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
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Autism	21956041	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:146409600-146422000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:146415200-146422800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links