Variant report

Variant	nsv968799
Chromosome Location	chr4:124352929-124362179
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	chr4:124355456..124357257-chr4:124359703..124361861,2	MCF-7	breast:
2	chr4:124355456..124357257-chr4:124359703..124361861,2	MCF-7	breast:

Extended variants
information (count: 409 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:409 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182472869	chr4:124352992-124352993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs551764992	chr4:124353047-124353048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552894217	chr4:124353067-124353068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111521772	chr4:124353165-124353166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548686269	chr4:124353167-124353168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535278761	chr4:124353173-124353174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535530522	chr4:124353246-124353247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201960116	chr4:124353250-124353251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575322871	chr4:124353258-124353259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186261479	chr4:124353262-124353263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147839306	chr4:124353303-124353304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577608295	chr4:124353372-124353373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139770112	chr4:124353399-124353400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190845760	chr4:124353437-124353438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534330114	chr4:124353461-124353462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201505335	chr4:124353462-124353463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11098710	chr4:124353489-124353490	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs541087195	chr4:124353535-124353536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542462878	chr4:124353566-124353567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371056986	chr4:124353568-124353569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531015446	chr4:124353569-124353570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536743143	chr4:124353588-124353589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377181932	chr4:124353605-124353606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35963090	chr4:124353639-124353640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570820074	chr4:124353653-124353654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs60133174	chr4:124353663-124353664	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs559287838	chr4:124353676-124353677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201056579	chr4:124353681-124353682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566447513	chr4:124353703-124353704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149930275	chr4:124353705-124353706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114818292	chr4:124353712-124353713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12330978	chr4:124353713-124353714	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs558702962	chr4:124353739-124353740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537937758	chr4:124353779-124353780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557616787	chr4:124353780-124353781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12330981	chr4:124353782-124353783	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs145030496	chr4:124353901-124353902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149055370	chr4:124353934-124353935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573556408	chr4:124353937-124353938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542572349	chr4:124353949-124353950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562297001	chr4:124353959-124353960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143094648	chr4:124353968-124353969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559869864	chr4:124353985-124353986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370401084	chr4:124354007-124354008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573539345	chr4:124354009-124354010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564435040	chr4:124354011-124354012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34360184	chr4:124354122-124354123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183092620	chr4:124354124-124354125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533327443	chr4:124354131-124354132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546613287	chr4:124354137-124354138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Thoracic aortic aneurysm	21092924	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
Breast cancer	16272173	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
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	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
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
small cell lung cancer	20016488	CNVD
Olfactory neuroblastoma	18408657	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Developmental delay	21147756	CNVD
Renal cell carcinoma	18765545	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myelofibrosis	22110671	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124351600-124356400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:124354600-124354800	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr4:124354800-124355000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
4	chr4:124354800-124355200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr4:124354800-124355600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr4:124354800-124355600	Enhancers	Psoas Muscle	Psoas
7	chr4:124354800-124355600	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr4:124355000-124355800	Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr4:124355200-124356400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr4:124355600-124357400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr4:124355800-124357400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr4:124355800-124365400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr4:124356400-124356600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr4:124356400-124357400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
15	chr4:124356400-124357400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr4:124356400-124357400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr4:124356400-124357600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
18	chr4:124356400-124357800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
19	chr4:124357200-124357800	Enhancers	Lung	lung
20	chr4:124357400-124357800	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr4:124357400-124357800	Enhancers	Pancreas	Pancrea
22	chr4:124357400-124357800	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr4:124357400-124359200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr4:124357600-124358000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr4:124357800-124359200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr4:124357800-124360000	Weak transcription	Lung	lung
27	chr4:124357800-124364000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr4:124357800-124365000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr4:124359000-124359400	Enhancers	Fetal Heart	heart
30	chr4:124359000-124359600	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr4:124359000-124359800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr4:124359000-124359800	Enhancers	Adipose Nuclei	Adipose
33	chr4:124359000-124359800	Enhancers	Fetal Lung	lung
34	chr4:124359000-124359800	Enhancers	Stomach Mucosa	stomach
35	chr4:124359200-124359600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr4:124359200-124359600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr4:124359200-124359600	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr4:124359200-124359600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr4:124359200-124360000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr4:124359400-124359800	Enhancers	HepG2	liver
41	chr4:124359600-124364000	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr4:124359600-124364000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr4:124359600-124364600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr4:124359600-124364600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr4:124359800-124364000	Weak transcription	Stomach Mucosa	stomach
46	chr4:124359800-124364200	Weak transcription	HepG2	liver
47	chr4:124359800-124364400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr4:124359800-124364400	Weak transcription	Adipose Nuclei	Adipose
49	chr4:124360000-124360200	Enhancers	Lung	lung
50	chr4:124360600-124370400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links