Variant report

Variant	nsv515987
Chromosome Location	chr5:59128754-59140876
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	chr5:59124958..59127632-chr5:59130819..59132620,2	K562	blood:

Extended variants
information (count: 356 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:356 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6868846	chr5:59128754-59128755	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs538044659	chr5:59128755-59128756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552084311	chr5:59128774-59128775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs10036621	chr5:59128832-59128833	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs148178348	chr5:59128840-59128841	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs141938768	chr5:59128869-59128870	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs34273744	chr5:59128915-59128916	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs572834220	chr5:59128938-59128939	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs568194702	chr5:59128997-59128998	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs559011195	chr5:59129025-59129026	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531547672	chr5:59129026-59129027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73758900	chr5:59129114-59129115	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs575438454	chr5:59129159-59129160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190740300	chr5:59129195-59129196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564434180	chr5:59129236-59129237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571795290	chr5:59129240-59129241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114355353	chr5:59129244-59129245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs150674521	chr5:59129279-59129280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560125507	chr5:59129291-59129292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538972672	chr5:59129293-59129294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183265194	chr5:59129294-59129295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187283691	chr5:59129333-59129334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549103885	chr5:59129419-59129420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535851535	chr5:59129498-59129499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562824501	chr5:59129505-59129506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531958105	chr5:59129558-59129559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139904526	chr5:59129562-59129563	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192146940	chr5:59129625-59129626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs376363626	chr5:59129722-59129723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs182908996	chr5:59129741-59129742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs188366155	chr5:59129769-59129770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192295870	chr5:59129790-59129791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535435754	chr5:59129796-59129797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs572902755	chr5:59129829-59129830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs11744008	chr5:59129830-59129831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs374066421	chr5:59129905-59129906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs143075448	chr5:59130019-59130020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs114821629	chr5:59130119-59130120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs537919214	chr5:59130159-59130160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs540315941	chr5:59130296-59130297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs147486122	chr5:59130298-59130299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs540141748	chr5:59130425-59130426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs376930358	chr5:59130449-59130450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs139868787	chr5:59130454-59130455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs573728980	chr5:59130486-59130487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs558508077	chr5:59130537-59130538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs73758901	chr5:59130577-59130578	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs184639450	chr5:59130620-59130621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs531725892	chr5:59130628-59130629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs6450534	chr5:59130652-59130653	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	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
Hepatocellular carcinoma	16750200	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
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59110400-59139000	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr5:59124400-59129200	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr5:59124800-59128800	Weak transcription	Fetal Stomach	stomach
4	chr5:59124800-59128800	Weak transcription	HSMMtube	muscle
5	chr5:59126000-59128800	Weak transcription	NH-A	brain
6	chr5:59126200-59129400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:59126800-59129600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr5:59127000-59129600	Enhancers	HSMM	muscle
9	chr5:59127200-59128800	Enhancers	Fetal Kidney	kidney
10	chr5:59127200-59129200	Enhancers	Fetal Lung	lung
11	chr5:59127600-59128800	Weak transcription	Fetal Brain Male	brain
12	chr5:59127800-59128800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr5:59127800-59129000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr5:59127800-59129000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr5:59127800-59129400	Enhancers	Fetal Brain Female	brain
16	chr5:59127800-59131200	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr5:59128000-59129200	Enhancers	HepG2	liver
18	chr5:59128000-59136000	Enhancers	Hela-S3	cervix
19	chr5:59128200-59160400	Weak transcription	Aorta	Aorta
20	chr5:59128600-59130200	Enhancers	Liver	Liver
21	chr5:59128800-59129000	Flanking Active TSS	Fetal Kidney	kidney
22	chr5:59128800-59129200	Enhancers	Fetal Stomach	stomach
23	chr5:59128800-59129200	Enhancers	NH-A	brain
24	chr5:59128800-59129400	Enhancers	Muscle Satellite Cultured Cells	--
25	chr5:59128800-59129800	Enhancers	Fetal Brain Male	brain
26	chr5:59128800-59130200	Enhancers	HSMMtube	muscle
27	chr5:59129000-59129200	Enhancers	H1 Cell Line	embryonic stem cell
28	chr5:59129000-59129200	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr5:59129000-59130400	Enhancers	Fetal Kidney	kidney
30	chr5:59129200-59129400	Weak transcription	HepG2	liver
31	chr5:59129200-59131600	Weak transcription	NH-A	brain
32	chr5:59129400-59129600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr5:59129400-59131200	Enhancers	HepG2	liver
34	chr5:59129600-59135200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr5:59129600-59135800	Weak transcription	HSMM	muscle
36	chr5:59129800-59143000	Weak transcription	Fetal Brain Male	brain
37	chr5:59130200-59135800	Weak transcription	HSMMtube	muscle
38	chr5:59131200-59132200	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr5:59131600-59132400	Enhancers	NH-A	brain
40	chr5:59132200-59132400	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr5:59132400-59132800	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr5:59132400-59135600	Weak transcription	NH-A	brain
43	chr5:59132800-59133000	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr5:59133000-59135200	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr5:59134000-59135000	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr5:59134200-59134600	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr5:59134200-59135600	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr5:59134600-59141400	Weak transcription	Primary B cells from cord blood	blood
49	chr5:59135200-59137200	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr5:59135200-59139600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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