Variant report

Variant	esv3434215
Chromosome Location	chr5:151760259-151762257
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56035552	chr5:151760275-151760276	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs888878	chr5:151760283-151760284	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs548252458	chr5:151760319-151760320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2348423	chr5:151760320-151760321	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs534445741	chr5:151760410-151760411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547908317	chr5:151760411-151760412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs888877	chr5:151760425-151760426	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs142294260	chr5:151760461-151760462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs72808347	chr5:151760491-151760492	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs113514634	chr5:151760548-151760549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112335572	chr5:151760554-151760555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567658021	chr5:151760725-151760726	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377546164	chr5:151760734-151760735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574423398	chr5:151760745-151760746	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536611763	chr5:151760761-151760762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150850279	chr5:151760772-151760773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572013016	chr5:151760840-151760841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186216831	chr5:151760841-151760842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552452729	chr5:151760854-151760855	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190883843	chr5:151760892-151760893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371780826	chr5:151760919-151760920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149702827	chr5:151760927-151760928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143801907	chr5:151760928-151760929	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570611573	chr5:151760956-151760957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553407904	chr5:151760957-151760958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371647700	chr5:151760994-151760995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111628493	chr5:151761074-151761075	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531510476	chr5:151761082-151761083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375268170	chr5:151761093-151761094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375027018	chr5:151761124-151761125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549682061	chr5:151761146-151761147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369285939	chr5:151761167-151761168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530095982	chr5:151761171-151761172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548563550	chr5:151761172-151761173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538082148	chr5:151761205-151761206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566931003	chr5:151761215-151761216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538774100	chr5:151761216-151761217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556685306	chr5:151761225-151761226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566867046	chr5:151761238-151761239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183460866	chr5:151761255-151761256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185757987	chr5:151761279-151761280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534082264	chr5:151761298-151761299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs62394514	chr5:151761434-151761435	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs556449208	chr5:151761457-151761458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577369552	chr5:151761459-151761460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191061755	chr5:151761491-151761492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535157430	chr5:151761529-151761530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553399229	chr5:151761633-151761634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571691743	chr5:151761639-151761640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139320369	chr5:151761645-151761646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Hyperekplexia	16941485	CNVD
Myelofibrosis	22110671	CNVD
Crohn''s disease	20877625	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	17603634	CNVD
Crohn''s disease	20106866	CNVD
Breast cancer	20409316	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:151758600-151760600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr5:151759800-151765800	Weak transcription	Stomach Mucosa	stomach
3	chr5:151760600-151761400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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