Variant report

Variant	nsv964745
Chromosome Location	chr4:143159565-143162633
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	chr4:143161536..143163187-chr4:143167916..143169950,2	MCF-7	breast:
2	chr1:121484984..121485877-chr4:143159132..143159840,2	MCF-7	breast:

Extended variants
information (count: 113 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569497420	chr4:143159573-143159574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs115758557	chr4:143159616-143159617	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111473330	chr4:143159655-143159656	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572648339	chr4:143159664-143159665	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145179812	chr4:143159704-143159705	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190220303	chr4:143159705-143159706	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573323604	chr4:143159723-143159724	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181683162	chr4:143159761-143159762	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112142656	chr4:143159806-143159807	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185414449	chr4:143159844-143159845	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188667109	chr4:143159846-143159847	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560382293	chr4:143159905-143159906	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181273666	chr4:143159919-143159920	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184948205	chr4:143159945-143159946	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562134043	chr4:143159946-143159947	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529284562	chr4:143159979-143159980	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376003559	chr4:143159988-143159989	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550909668	chr4:143159990-143159991	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190818510	chr4:143160011-143160012	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375187887	chr4:143160014-143160015	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs114738156	chr4:143160043-143160044	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs183871444	chr4:143160048-143160049	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs2627799	chr4:143160096-143160097	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534099194	chr4:143160133-143160134	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs28611471	chr4:143160139-143160140	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs28690972	chr4:143160142-143160143	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs187414458	chr4:143160158-143160159	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570133081	chr4:143160183-143160184	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537180545	chr4:143160191-143160192	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs537448592	chr4:143160197-143160198	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs78180278	chr4:143160254-143160255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577902950	chr4:143160268-143160269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1907124	chr4:143160328-143160329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545274889	chr4:143160349-143160350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554040505	chr4:143160360-143160361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191772633	chr4:143160362-143160363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183125363	chr4:143160389-143160390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187592225	chr4:143160400-143160401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529339832	chr4:143160406-143160407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs28480473	chr4:143160409-143160410	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs191662220	chr4:143160412-143160413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs111260550	chr4:143160447-143160448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs549333866	chr4:143160453-143160454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs182701871	chr4:143160461-143160462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs187676580	chr4:143160466-143160467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs74668749	chr4:143160472-143160473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs549120100	chr4:143160477-143160478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs567297395	chr4:143160522-143160523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs146726608	chr4:143160529-143160530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs376951462	chr4:143160623-143160624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Mental retardation	17901693	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Obesity	20622171	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	22048815	CNVD
Autism	22241247	CNVD
Glioblastoma multiforme	22286061	CNVD
Renal cell carcinoma	20952505	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143058000-143181000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr4:143129200-143169600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr4:143135400-143184200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr4:143139400-143159600	Weak transcription	HSMMtube	muscle
5	chr4:143142200-143159800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr4:143143600-143159600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr4:143151000-143185000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr4:143151200-143174000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr4:143152600-143159600	Weak transcription	Fetal Heart	heart
10	chr4:143153800-143181000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr4:143157600-143173800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr4:143157800-143159600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:143158000-143159800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr4:143158200-143159600	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr4:143158200-143162400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr4:143158200-143173600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr4:143158400-143159600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr4:143158400-143159600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:143158400-143159800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr4:143158400-143159800	Weak transcription	HSMM	muscle
21	chr4:143158400-143160400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr4:143158400-143163000	Weak transcription	Primary T cells from cord blood	blood
23	chr4:143158400-143163800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr4:143158400-143174000	Weak transcription	Primary hematopoietic stem cells	blood
25	chr4:143158600-143159800	Weak transcription	NHEK	skin
26	chr4:143158600-143160400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr4:143158600-143163400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr4:143158600-143173800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr4:143158800-143161800	Weak transcription	Dnd41	blood
30	chr4:143159000-143160000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr4:143159200-143159800	Weak transcription	HMEC	breast
32	chr4:143159200-143161000	Enhancers	Muscle Satellite Cultured Cells	--
33	chr4:143159200-143181000	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr4:143159200-143181000	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr4:143159400-143159600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr4:143159400-143160400	Enhancers	NHLF	lung
37	chr4:143159400-143160600	Enhancers	NHDF-Ad	bronchial
38	chr4:143159400-143160600	Enhancers	Osteobl	bone
39	chr4:143159600-143159800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr4:143159600-143159800	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr4:143159600-143159800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr4:143159600-143160000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr4:143159600-143160400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr4:143159600-143160600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr4:143159600-143160600	Enhancers	Fetal Heart	heart
46	chr4:143159600-143160600	Enhancers	HSMMtube	muscle
47	chr4:143159600-143160600	Enhancers	NH-A	brain
48	chr4:143159600-143161000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr4:143159800-143160000	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr4:143159800-143160200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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