Variant report

Variant	nsv4574
Chromosome Location	chr4:160652259-160686024
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:160678721..160681437-chr4:160682967..160685832,2	MCF-7	breast:
2	chr4:160678721..160681437-chr4:160682967..160685832,2	MCF-7	breast:
3	chr4:160685499..160686183-chr4:160832505..160833090,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C4orf45-1	chr4:160666874-160666960	XLOC_004140

Extended variants
information (count: 1259 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:1259 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369693888	chr4:160655477-160655478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528572248	chr4:160655478-160655479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs75797191	chr4:160655538-160655539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571737880	chr4:160655551-160655552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs17038730	chr4:160655591-160655592	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs186965383	chr4:160655632-160655633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569919436	chr4:160655634-160655635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535796812	chr4:160655640-160655641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539481864	chr4:160655709-160655710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565567013	chr4:160655800-160655801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs578209961	chr4:160656032-160656033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542950346	chr4:160656039-160656040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs1502746	chr4:160656084-160656085	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs528450987	chr4:160656090-160656091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555437086	chr4:160656094-160656095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs1502747	chr4:160656119-160656120	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs193185910	chr4:160656264-160656265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549999849	chr4:160656303-160656304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563507870	chr4:160656365-160656366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554368995	chr4:160656384-160656385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs143020610	chr4:160656408-160656409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs185072726	chr4:160656412-160656413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575609963	chr4:160656443-160656444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534278703	chr4:160656465-160656466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs190127599	chr4:160656482-160656483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs371574960	chr4:160656520-160656521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs141144434	chr4:160656579-160656580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536788762	chr4:160656583-160656584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557119573	chr4:160656615-160656616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201074806	chr4:160656633-160656634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201877305	chr4:160656660-160656661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200304651	chr4:160656664-160656665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369447695	chr4:160656673-160656674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182184179	chr4:160656693-160656694	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553359361	chr4:160656707-160656708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147442728	chr4:160656749-160656750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1473392	chr4:160656779-160656780	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs1473393	chr4:160656799-160656800	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs139717661	chr4:160656820-160656821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544744789	chr4:160656883-160656884	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561389054	chr4:160656908-160656909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs374219604	chr4:160656918-160656919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147183512	chr4:160657004-160657005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559334161	chr4:160657027-160657028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528429890	chr4:160657054-160657055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551079539	chr4:160657101-160657102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570947243	chr4:160657142-160657143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536729674	chr4:160657149-160657150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550235618	chr4:160657164-160657165	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567040748	chr4:160657171-160657172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	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
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	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
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	20409316	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	19805367	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:160655400-160655800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr4:160656000-160656200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr4:160656200-160657000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr4:160656200-160658400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr4:160656400-160658000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:160656600-160658000	Enhancers	H1 Cell Line	embryonic stem cell
7	chr4:160656600-160658200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr4:160656600-160658200	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr4:160656800-160657000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:160656800-160657400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr4:160656800-160657400	Enhancers	Fetal Kidney	kidney
12	chr4:160656800-160657800	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr4:160656800-160658000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:160656800-160658000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr4:160656800-160658200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr4:160656800-160658200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr4:160657000-160657200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr4:160657000-160669200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:160657200-160657600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr4:160657600-160658800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr4:160658000-160658200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr4:160658200-160658400	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr4:160660000-160660200	Enhancers	Pancreas	Pancrea
24	chr4:160665400-160666400	Enhancers	Fetal Brain Male	brain
25	chr4:160665600-160666600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr4:160666600-160685400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr4:160668800-160669200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr4:160669200-160669400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:160669200-160669600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr4:160669200-160669600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr4:160669200-160669600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr4:160669400-160669800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:160669600-160676400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr4:160669800-160673600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr4:160673600-160673800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr4:160676200-160676600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr4:160685200-160687400	Enhancers	HSMM	muscle
38	chr4:160685200-160687600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr4:160685200-160689800	Enhancers	Muscle Satellite Cultured Cells	--
40	chr4:160685400-160685600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr4:160685400-160685600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr4:160685400-160686000	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr4:160685400-160686000	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr4:160685400-160686000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr4:160685400-160686000	Enhancers	HSMMtube	muscle
46	chr4:160685400-160686200	Enhancers	Fetal Brain Male	brain
47	chr4:160685400-160689600	Enhancers	NH-A	brain
48	chr4:160685600-160685800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr4:160685600-160686000	Enhancers	Colon Smooth Muscle	Colon
50	chr4:160685600-160687000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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