Variant report

Variant	esv3471107
Chromosome Location	chr5:151249859-151254957
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 172 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:172 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567635314	chr5:151249862-151249863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144336354	chr5:151249892-151249893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182733102	chr5:151249898-151249899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs578195152	chr5:151249899-151249900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545381698	chr5:151249904-151249905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557489227	chr5:151249991-151249992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575449314	chr5:151250043-151250044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542289511	chr5:151250056-151250057	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188201991	chr5:151250077-151250078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192763763	chr5:151250081-151250082	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147401187	chr5:151250105-151250106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564772605	chr5:151250106-151250107	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139707748	chr5:151250135-151250136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185173904	chr5:151250182-151250183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562636493	chr5:151250200-151250201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145296727	chr5:151250221-151250222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530803119	chr5:151250230-151250231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12653926	chr5:151250248-151250249	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs369562268	chr5:151250265-151250266	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567746565	chr5:151250290-151250291	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73794381	chr5:151250306-151250307	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs189007707	chr5:151250372-151250373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571560617	chr5:151250458-151250459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs80294198	chr5:151250460-151250461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557254617	chr5:151250511-151250512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575562403	chr5:151250518-151250519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536435052	chr5:151250531-151250532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs56985787	chr5:151250538-151250539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545687912	chr5:151250630-151250631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572599280	chr5:151250670-151250671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376770162	chr5:151250722-151250723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192342790	chr5:151250786-151250787	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115397972	chr5:151250787-151250788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73794382	chr5:151250811-151250812	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs4478307	chr5:151250842-151250843	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs562748968	chr5:151250852-151250853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111839120	chr5:151250877-151250878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530050286	chr5:151250886-151250887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184730792	chr5:151250976-151250977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548395344	chr5:151250984-151250985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200578692	chr5:151251034-151251035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201673018	chr5:151251037-151251038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs70976029	chr5:151251039-151251040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373146690	chr5:151251040-151251041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs199777550	chr5:151251095-151251096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200596653	chr5:151251130-151251131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs386693666	chr5:151251144-151251145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140426620	chr5:151251145-151251146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546796052	chr5:151251152-151251153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201946855	chr5:151251183-151251184	Enhancers 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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:151235200-151264200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr5:151249800-151250800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr5:151249800-151250800	Enhancers	HSMM	muscle
4	chr5:151249800-151251000	Enhancers	HSMMtube	muscle
5	chr5:151249800-151251200	Enhancers	NHDF-Ad	bronchial
6	chr5:151250000-151250400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:151250000-151250800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:151250000-151250800	Enhancers	NH-A	brain
9	chr5:151250000-151250800	Enhancers	Osteobl	bone
10	chr5:151250000-151251000	Enhancers	HMEC	breast
11	chr5:151250000-151251800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr5:151250000-151252200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr5:151250200-151250600	Enhancers	NHLF	lung
14	chr5:151250200-151250800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:151250200-151250800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:151250200-151250800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr5:151250200-151250800	Enhancers	NHEK	skin
18	chr5:151250400-151250800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:151250400-151250800	Enhancers	A549	lung
20	chr5:151250800-151251600	Weak transcription	HSMM	muscle
21	chr5:151251600-151251800	Enhancers	HSMM	muscle

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