Variant report

Variant	esv1801130
Chromosome Location	chr3:28869197-28875273
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 219 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:219 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1909597	chr3:28869197-28869198	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs551578377	chr3:28869201-28869202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189790489	chr3:28869232-28869233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs180932420	chr3:28869233-28869234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546648750	chr3:28869302-28869303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566873338	chr3:28869307-28869308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536115178	chr3:28869333-28869334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556085909	chr3:28869349-28869350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs35771654	chr3:28869389-28869390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185595492	chr3:28869418-28869419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538032612	chr3:28869445-28869446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs6766392	chr3:28869463-28869464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571325043	chr3:28869511-28869512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577632123	chr3:28869537-28869538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540346169	chr3:28869546-28869547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534880032	chr3:28869559-28869560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548335649	chr3:28869581-28869582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6791291	chr3:28869595-28869596	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs542259052	chr3:28869699-28869700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562417476	chr3:28869732-28869733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs9883900	chr3:28869733-28869734	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs12054125	chr3:28869779-28869780	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs12054127	chr3:28869807-28869808	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs140413194	chr3:28869830-28869831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551798619	chr3:28869882-28869883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567011537	chr3:28869883-28869884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539205549	chr3:28869894-28869895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12054478	chr3:28869923-28869924	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs386659671	chr3:28869948-28869949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1353925	chr3:28869949-28869950	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs558042746	chr3:28869950-28869951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs17494191	chr3:28869967-28869968	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs138047942	chr3:28869992-28869993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369285747	chr3:28870023-28870024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140971851	chr3:28870038-28870039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375957956	chr3:28870082-28870083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575626875	chr3:28870150-28870151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143304746	chr3:28870164-28870165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148324276	chr3:28870189-28870190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562158257	chr3:28870191-28870192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369821091	chr3:28870206-28870207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544480628	chr3:28870216-28870217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545290883	chr3:28870234-28870235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12054244	chr3:28870236-28870237	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs527472401	chr3:28870245-28870246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs74780608	chr3:28870279-28870280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560547101	chr3:28870305-28870306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529442054	chr3:28870335-28870336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549364854	chr3:28870407-28870408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569257428	chr3:28870425-28870426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	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
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16618734	CNVD
Cancer	20164919	CNVD
Developmental delay	21147756	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:28863600-28877200	Weak transcription	Aorta	Aorta
2	chr3:28875000-28875200	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr3:28875200-28875600	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr3:28875200-28877000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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