Variant report

Variant	nsv590339
Chromosome Location	chr3:53033295-53046216
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	chr3:53045411..53048406-chr3:53050370..53052257,2	K562	blood:
2	chr3:53037209..53039730-chr3:53079605..53081876,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163935	chromatin interactions

Extended variants
information (count: 499 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:499 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2564919	chr3:53033295-53033296	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs563073485	chr3:53033296-53033297	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs576528876	chr3:53033376-53033377	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs117493077	chr3:53033399-53033400	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs150614332	chr3:53033409-53033410	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs528228165	chr3:53033439-53033440	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs538634828	chr3:53033452-53033453	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs561948046	chr3:53033503-53033504	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs572457191	chr3:53033613-53033614	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs370124806	chr3:53033644-53033645	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs559332737	chr3:53033699-53033700	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530954698	chr3:53033719-53033720	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs550990697	chr3:53033727-53033728	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570996063	chr3:53033730-53033731	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539930245	chr3:53033739-53033740	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12635298	chr3:53033796-53033797	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs567074354	chr3:53033797-53033798	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs190804339	chr3:53033830-53033831	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs554960392	chr3:53033872-53033873	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs575512800	chr3:53033905-53033906	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs138677246	chr3:53033906-53033907	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs573200686	chr3:53033907-53033908	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs149353790	chr3:53033923-53033924	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs576724731	chr3:53033926-53033927	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs147475073	chr3:53033943-53033944	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs559149313	chr3:53033980-53033981	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs573026300	chr3:53033998-53033999	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs542023781	chr3:53034040-53034041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562009098	chr3:53034054-53034055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530814800	chr3:53034056-53034057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550851599	chr3:53034062-53034063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534274069	chr3:53034064-53034065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564474352	chr3:53034068-53034069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2564918	chr3:53034069-53034070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547088843	chr3:53034074-53034075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558815328	chr3:53034080-53034081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145215065	chr3:53034085-53034086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549165090	chr3:53034099-53034100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569251750	chr3:53034109-53034110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538158618	chr3:53034114-53034115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557984717	chr3:53034141-53034142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572760320	chr3:53034167-53034168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539047028	chr3:53034168-53034169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147201140	chr3:53034170-53034171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148687620	chr3:53034180-53034181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539734634	chr3:53034186-53034187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371222869	chr3:53034278-53034279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200459846	chr3:53034279-53034280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144089705	chr3:53034292-53034293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542085159	chr3:53034297-53034298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21785460	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Septo-optic dysplasia	21572526	CNVD
Biliary cancer	19435499	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
Ventriculomegaly	21325761	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Lung cancer	16618734	CNVD
Neuroblastoma	19686582	CNVD
Renal cell carcinoma	18765545	CNVD
Adrenocortical carcinoma	18281524	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:194 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52965000-53039800	Weak transcription	Left Ventricle	heart
2	chr3:53018000-53044200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr3:53018200-53045200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr3:53019000-53057200	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr3:53019200-53039600	Weak transcription	GM12878-XiMat	blood
6	chr3:53019600-53056400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr3:53019800-53044400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr3:53020600-53057000	Weak transcription	Dnd41	blood
9	chr3:53022600-53043000	Weak transcription	Primary B cells from peripheral blood	blood
10	chr3:53022600-53050400	Weak transcription	Primary B cells from cord blood	blood
11	chr3:53025200-53039000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr3:53025600-53061600	Weak transcription	Lung	lung
13	chr3:53026200-53037800	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr3:53026200-53042400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr3:53026200-53044200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr3:53027200-53043400	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr3:53027600-53061600	Weak transcription	Liver	Liver
18	chr3:53027800-53051000	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr3:53028400-53044200	Weak transcription	Adipose Nuclei	Adipose
20	chr3:53030200-53034200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr3:53030200-53059400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:53030400-53052400	Weak transcription	Primary T cells from cord blood	blood
23	chr3:53030800-53050400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr3:53031000-53039800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr3:53031400-53033800	Strong transcription	Fetal Intestine Small	intestine
26	chr3:53031600-53034600	Weak transcription	Thymus	Thymus
27	chr3:53031600-53038000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr3:53031800-53033600	Active TSS	Hela-S3	cervix
29	chr3:53032000-53035200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr3:53032400-53033600	Strong transcription	Fetal Stomach	stomach
31	chr3:53032400-53033800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr3:53032600-53033400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr3:53032600-53033400	Weak transcription	Small Intestine	intestine
34	chr3:53032600-53033400	Genic enhancers	Spleen	Spleen
35	chr3:53032600-53033600	ZNF genes & repeats	Fetal Intestine Large	intestine
36	chr3:53032600-53033600	Flanking Active TSS	Placenta	Placenta
37	chr3:53032600-53033800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr3:53032600-53033800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr3:53032800-53033400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr3:53032800-53033800	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr3:53032800-53033800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr3:53032800-53041000	Weak transcription	Brain Germinal Matrix	brain
43	chr3:53032800-53051600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr3:53033000-53033400	Strong transcription	Right Ventricle	heart
45	chr3:53033000-53078400	Weak transcription	Aorta	Aorta
46	chr3:53033200-53033400	Enhancers	A549	lung
47	chr3:53033200-53033600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr3:53033200-53033600	Genic enhancers	Esophagus	oesophagus
49	chr3:53033200-53033600	Enhancers	Gastric	stomach
50	chr3:53033200-53033800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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