Variant report

Variant	esv3487129
Chromosome Location	chr5:151248309-151254207
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:151237615..151239787-chr5:151247109..151248948,2	K562	blood:

Extended variants
information (count: 186 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:186 , 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	rs199690912	chr5:151248320-151248321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573900462	chr5:151248330-151248331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570035543	chr5:151248336-151248337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563373838	chr5:151248390-151248391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191335916	chr5:151248395-151248396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537044469	chr5:151248452-151248453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548568016	chr5:151248480-151248481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183589110	chr5:151248488-151248489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528330324	chr5:151248610-151248611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10062169	chr5:151248636-151248637	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs373914824	chr5:151248646-151248647	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs75387544	chr5:151248663-151248664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112857798	chr5:151248667-151248668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186195169	chr5:151248717-151248718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370486629	chr5:151248728-151248729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374356136	chr5:151248755-151248756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10054255	chr5:151248766-151248767	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs145096376	chr5:151248767-151248768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138980136	chr5:151248802-151248803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112939163	chr5:151248824-151248825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146407325	chr5:151248888-151248889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555748881	chr5:151248895-151248896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372476846	chr5:151248902-151248903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547168979	chr5:151248924-151248925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190911785	chr5:151249006-151249007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6871781	chr5:151249044-151249045	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs183443337	chr5:151249064-151249065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545567094	chr5:151249104-151249105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186633997	chr5:151249323-151249324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs75142821	chr5:151249335-151249336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368495254	chr5:151249350-151249351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs74294719	chr5:151249392-151249393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560515097	chr5:151249394-151249395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528100087	chr5:151249396-151249397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143929242	chr5:151249428-151249429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs72802225	chr5:151249430-151249431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192718684	chr5:151249450-151249451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148644032	chr5:151249630-151249631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569073897	chr5:151249705-151249706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537499389	chr5:151249716-151249717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs116725661	chr5:151249857-151249858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567635314	chr5:151249862-151249863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144336354	chr5:151249892-151249893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182733102	chr5:151249898-151249899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs578195152	chr5:151249899-151249900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545381698	chr5:151249904-151249905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557489227	chr5:151249991-151249992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575449314	chr5:151250043-151250044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542289511	chr5:151250056-151250057	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188201991	chr5:151250077-151250078	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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:151235200-151264200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr5:151247800-151248600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr5:151248000-151248800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr5:151248200-151248600	Enhancers	Primary T cells fromperipheralblood	blood
5	chr5:151248200-151248600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
6	chr5:151248200-151248800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr5:151249800-151250800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:151249800-151250800	Enhancers	HSMM	muscle
9	chr5:151249800-151251000	Enhancers	HSMMtube	muscle
10	chr5:151249800-151251200	Enhancers	NHDF-Ad	bronchial
11	chr5:151250000-151250400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:151250000-151250800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:151250000-151250800	Enhancers	NH-A	brain
14	chr5:151250000-151250800	Enhancers	Osteobl	bone
15	chr5:151250000-151251000	Enhancers	HMEC	breast
16	chr5:151250000-151251800	Enhancers	Muscle Satellite Cultured Cells	--
17	chr5:151250000-151252200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr5:151250200-151250600	Enhancers	NHLF	lung
19	chr5:151250200-151250800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr5:151250200-151250800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:151250200-151250800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr5:151250200-151250800	Enhancers	NHEK	skin
23	chr5:151250400-151250800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr5:151250400-151250800	Enhancers	A549	lung
25	chr5:151250800-151251600	Weak transcription	HSMM	muscle
26	chr5:151251600-151251800	Enhancers	HSMM	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links