Variant report

Variant	nsv980151
Chromosome Location	chr4:121034439-121045684
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	chr4:121022913..121025564-chr4:121032231..121034639,2	K562	blood:

Extended variants
information (count: 153 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:153 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74663421	chr4:121034451-121034452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs143504017	chr4:121034458-121034459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs386679007	chr4:121034479-121034480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs17010476	chr4:121034480-121034481	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs187928057	chr4:121034524-121034525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539523259	chr4:121034543-121034544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs377655386	chr4:121034552-121034553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566517486	chr4:121034585-121034586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs137979089	chr4:121034597-121034598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs17010483	chr4:121034609-121034610	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs192353804	chr4:121034643-121034644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543715769	chr4:121034647-121034648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549063111	chr4:121034684-121034685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182471609	chr4:121034685-121034686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs146828264	chr4:121034705-121034706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs77118649	chr4:121034734-121034735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569245442	chr4:121034778-121034779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559532161	chr4:121034802-121034803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537920534	chr4:121034816-121034817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs201398394	chr4:121034819-121034820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs398092752	chr4:121034829-121034830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs1389429	chr4:121034845-121034846	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs139228321	chr4:121034897-121034898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs111952015	chr4:121034933-121034934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs150891923	chr4:121034944-121034945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs531079811	chr4:121034961-121034962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540381407	chr4:121034970-121034971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570912936	chr4:121035042-121035043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs547104853	chr4:121035102-121035103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs186748812	chr4:121035112-121035113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs72916058	chr4:121035114-121035115	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs117156012	chr4:121035159-121035160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs116700962	chr4:121035160-121035161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs555441482	chr4:121035210-121035211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs35213963	chr4:121035223-121035224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569255628	chr4:121035238-121035239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs192768617	chr4:121035255-121035256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs375621913	chr4:121035267-121035268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557229812	chr4:121035309-121035310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539628206	chr4:121035316-121035317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs576956041	chr4:121035367-121035368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs184797015	chr4:121035424-121035425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs553083213	chr4:121035482-121035483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs545446724	chr4:121035503-121035504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs573009037	chr4:121035512-121035513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs553245008	chr4:121035515-121035516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs541964553	chr4:121035521-121035522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs368622633	chr4:121035531-121035532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs561501972	chr4:121035560-121035561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs575200051	chr4:121035575-121035576	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
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:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121031400-121034800	Weak transcription	Left Ventricle	heart
2	chr4:121033600-121035000	Weak transcription	Gastric	stomach
3	chr4:121034400-121035200	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr4:121034400-121038800	Weak transcription	Fetal Lung	lung
5	chr4:121034800-121036000	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr4:121035000-121035200	Enhancers	Gastric	stomach
7	chr4:121035800-121036400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr4:121036000-121036400	Enhancers	Osteobl	bone
9	chr4:121036000-121036600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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