Variant report

Variant	nsv527308
Chromosome Location	chr5:119966585-119991124
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:119980670..119983266-chr5:119989740..119991907,2	K562	blood:
2	chr5:119980670..119983266-chr5:119989740..119991907,2	K562	blood:
3	chr5:119990484..119993004-chr5:119995293..119997349,2	K562	blood:

Extended variants
information (count: 1012 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:1012 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1524561	chr5:119966585-119966586	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs141141894	chr5:119966604-119966605	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs55833333	chr5:119966663-119966664	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551811092	chr5:119966674-119966675	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565681212	chr5:119966695-119966696	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534290740	chr5:119966726-119966727	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554472548	chr5:119966729-119966730	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112564888	chr5:119966745-119966746	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567350789	chr5:119966853-119966854	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7713622	chr5:119966858-119966859	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs115177906	chr5:119966862-119966863	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576659930	chr5:119966866-119966867	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7733858	chr5:119966870-119966871	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs4895163	chr5:119966907-119966908	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs572426086	chr5:119966928-119966929	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541044063	chr5:119966975-119966976	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185979340	chr5:119966980-119966981	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529929841	chr5:119966987-119966988	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543260805	chr5:119966989-119966990	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368527678	chr5:119967023-119967024	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532137816	chr5:119967043-119967044	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552266475	chr5:119967062-119967063	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565613429	chr5:119967095-119967096	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528121466	chr5:119967096-119967097	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547865522	chr5:119967144-119967145	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192023244	chr5:119967150-119967151	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115633751	chr5:119967151-119967152	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183904684	chr5:119967184-119967185	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570278461	chr5:119967187-119967188	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs116019814	chr5:119967206-119967207	Enhancers Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559035717	chr5:119967218-119967219	Enhancers Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111948664	chr5:119967268-119967269	Enhancers Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113799073	chr5:119967344-119967345	Enhancers Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573397933	chr5:119967345-119967346	Enhancers Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540816947	chr5:119967420-119967421	Enhancers Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374697962	chr5:119967422-119967423	Enhancers Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554663435	chr5:119967427-119967428	Enhancers Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150315566	chr5:119967429-119967430	Enhancers Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192084122	chr5:119967451-119967452	Enhancers Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144960868	chr5:119967460-119967461	Enhancers Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148976279	chr5:119967461-119967462	Enhancers Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532199300	chr5:119967521-119967522	Enhancers Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545659586	chr5:119967535-119967536	Enhancers Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559438515	chr5:119967585-119967586	Enhancers Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528168653	chr5:119967609-119967610	Enhancers Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373622488	chr5:119967624-119967625	Enhancers Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548218788	chr5:119967739-119967740	Enhancers Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568070251	chr5:119967740-119967741	Enhancers Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530483409	chr5:119967794-119967795	Enhancers Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs60513901	chr5:119967813-119967814	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:73)

Disease	PMID	Source
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
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	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
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119950600-119967400	Weak transcription	Psoas Muscle	Psoas
2	chr5:119952400-119969200	Weak transcription	Aorta	Aorta
3	chr5:119953000-119970600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:119953000-120021800	Weak transcription	HSMMtube	muscle
5	chr5:119955000-119966800	Weak transcription	Fetal Lung	lung
6	chr5:119960600-119967000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:119960800-119967200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:119960800-119979600	Weak transcription	Osteobl	bone
9	chr5:119962200-119980400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr5:119963400-119967000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr5:119963400-119969600	Weak transcription	NHDF-Ad	bronchial
12	chr5:119963800-119976400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:119964200-119976600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr5:119965000-119967000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr5:119966200-119967800	Strong transcription	HSMM	muscle
16	chr5:119966200-119968600	Weak transcription	Fetal Stomach	stomach
17	chr5:119966400-119967800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr5:119966800-119968000	Strong transcription	Fetal Lung	lung
19	chr5:119967000-119967800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr5:119967000-119967800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr5:119967000-119967800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr5:119967200-119967600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr5:119967200-119967600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:119967400-119967600	Enhancers	Psoas Muscle	Psoas
25	chr5:119967400-119968400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:119967600-119968000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr5:119967600-119969600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:119967800-119968800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr5:119967800-119976400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr5:119967800-119978000	Weak transcription	HSMM	muscle
31	chr5:119967800-119979200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr5:119967800-120012800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr5:119968000-119973800	Weak transcription	Fetal Lung	lung
34	chr5:119975800-119977200	Enhancers	Fetal Brain Female	brain
35	chr5:119976400-119976600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr5:119976400-119977400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr5:119976600-119976800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr5:119976600-119977400	Enhancers	Psoas Muscle	Psoas
39	chr5:119976600-119977600	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr5:119976800-119977200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr5:119977200-119978000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr5:119977400-119983800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr5:119978000-119978600	Strong transcription	HSMM	muscle
44	chr5:119978000-119980400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr5:119978600-120004600	Weak transcription	HSMM	muscle
46	chr5:119979200-119979400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr5:119979400-119979600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr5:119979600-119980600	Enhancers	Osteobl	bone
49	chr5:119979600-119984000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr5:119980200-119981000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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