Variant report

Variant	nsv966215
Chromosome Location	chr4:121913363-121915352
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 98 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs151177693	chr4:121913390-121913391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531709642	chr4:121913458-121913459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111716738	chr4:121913464-121913465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs180858011	chr4:121913468-121913469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571662364	chr4:121913471-121913472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184979814	chr4:121913497-121913498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs72909745	chr4:121913545-121913546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567586627	chr4:121913577-121913578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536574833	chr4:121913609-121913610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374296666	chr4:121913653-121913654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557504323	chr4:121913689-121913690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555881979	chr4:121913700-121913701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs576025386	chr4:121913758-121913759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs144450520	chr4:121913787-121913788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558575084	chr4:121913809-121913810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs78665416	chr4:121913825-121913826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146604106	chr4:121913898-121913899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs2167205	chr4:121913912-121913913	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs2167206	chr4:121913916-121913917	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs543747948	chr4:121913947-121913948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528185320	chr4:121913955-121913956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs143693196	chr4:121913961-121913962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531157635	chr4:121913968-121913969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs78236123	chr4:121913991-121913992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546280888	chr4:121914018-121914019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs531691361	chr4:121914035-121914036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551490525	chr4:121914056-121914057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs60436483	chr4:121914062-121914063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs141328220	chr4:121914065-121914066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs527797573	chr4:121914108-121914109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs181191981	chr4:121914139-121914140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs116732373	chr4:121914147-121914148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536537514	chr4:121914160-121914161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556772805	chr4:121914178-121914179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs570253187	chr4:121914217-121914218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs187149522	chr4:121914224-121914225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551989569	chr4:121914235-121914236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs542249567	chr4:121914281-121914282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs370896557	chr4:121914285-121914286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs72909746	chr4:121914337-121914338	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs72909748	chr4:121914357-121914358	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs375585034	chr4:121914370-121914371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs574727551	chr4:121914371-121914372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs191534961	chr4:121914382-121914383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs75009586	chr4:121914423-121914424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs72909749	chr4:121914447-121914448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148937991	chr4:121914450-121914451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs116079414	chr4:121914479-121914480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143644387	chr4:121914496-121914497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs527775034	chr4:121914512-121914513	Weak transcription	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
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
Myelofibrosis	22110671	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
Breast cancer	22522925	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121912400-121913600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:121912400-121916000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:121913600-121913800	Weak transcription	Fetal Lung	lung
4	chr4:121913600-121914400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:121914200-121914400	Enhancers	Fetal Lung	lung
6	chr4:121914400-121915600	Weak transcription	Fetal Lung	lung
7	chr4:121914400-121915800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:121915200-121915800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr4:121915200-121916000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr4:121915200-121916000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr4:121915200-121916000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:121915200-121916400	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr4:121915200-121916400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr4:121915200-121916800	Enhancers	Primary T helper cells PMA-I stimulated	--

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