Variant report

Variant	nsv528554
Chromosome Location	chr4:120968070-120969089
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:120965102..120968292-chr4:120969292..120973289,4	K562	blood:
2	chr4:120965543..120968090-chr4:120982539..120985159,2	K562	blood:
3	chr4:120966303..120968314-chr4:120969694..120972264,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6828161	chr4:120968070-120968071	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs570772873	chr4:120968109-120968110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539752373	chr4:120968113-120968114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553486622	chr4:120968131-120968132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs202242098	chr4:120968158-120968159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573406473	chr4:120968170-120968171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182122022	chr4:120968174-120968175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116603801	chr4:120968189-120968190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs72686526	chr4:120968229-120968230	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs544589608	chr4:120968264-120968265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536109280	chr4:120968286-120968287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564488853	chr4:120968336-120968337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532396238	chr4:120968374-120968375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545824959	chr4:120968392-120968393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559489553	chr4:120968396-120968397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555645690	chr4:120968434-120968435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373178622	chr4:120968435-120968436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188388615	chr4:120968454-120968455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs28830548	chr4:120968636-120968637	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs370736921	chr4:120968681-120968682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561414837	chr4:120968690-120968691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530533719	chr4:120968697-120968698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73845503	chr4:120968708-120968709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550118802	chr4:120968714-120968715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539454093	chr4:120968725-120968726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570353832	chr4:120968731-120968732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191132776	chr4:120968738-120968739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141676096	chr4:120968797-120968798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183844782	chr4:120968798-120968799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs72686529	chr4:120968799-120968800	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs7677142	chr4:120968893-120968894	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs116429407	chr4:120968904-120968905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538352903	chr4:120968954-120968955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12505198	chr4:120968969-120968970	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs376455750	chr4:120968991-120968992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577989866	chr4:120969016-120969017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555226953	chr4:120969047-120969048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188187407	chr4:120969052-120969053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7677531	chr4:120969089-120969090	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	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
Melanoma	18172304	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
Adenoid cystic carcinoma	18698036	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
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Myelofibrosis	22110671	CNVD
Myelodysplastic syndrome	18508791	CNVD
small cell lung cancer	20016488	CNVD
Clear cell renal cell carcinoma	18791270	CNVD
Acute myeloid leukemia	19651601	CNVD
Gastric cancer	16891809	CNVD
Olfactory neuroblastoma	18408657	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120962200-120987200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:120966000-120975600	Weak transcription	Dnd41	blood
3	chr4:120966400-120976200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr4:120967400-120970200	Weak transcription	Aorta	Aorta

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