Variant report

Variant	esv3323263
Chromosome Location	chr4:167002302-167006800
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 194 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:194 , 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	rs138016592	chr4:167002385-167002386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs111435209	chr4:167002435-167002436	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542354582	chr4:167002497-167002498	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529420479	chr4:167002521-167002522	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374743252	chr4:167002530-167002531	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544961971	chr4:167002536-167002537	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548360787	chr4:167002572-167002573	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539746348	chr4:167002627-167002628	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144120103	chr4:167002674-167002675	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369081567	chr4:167002682-167002683	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561419886	chr4:167002685-167002686	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78583650	chr4:167002701-167002702	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77361849	chr4:167002707-167002708	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372719923	chr4:167002744-167002745	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs116237096	chr4:167002766-167002767	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546211429	chr4:167002768-167002769	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542274162	chr4:167002783-167002784	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148620441	chr4:167002786-167002787	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541982450	chr4:167002893-167002894	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374972374	chr4:167002906-167002907	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535185489	chr4:167002916-167002917	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559274743	chr4:167002923-167002924	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs115540571	chr4:167002939-167002940	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528201313	chr4:167002940-167002941	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539729283	chr4:167002941-167002942	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144190764	chr4:167002956-167002957	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs66538513	chr4:167002962-167002963	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs147390264	chr4:167003003-167003004	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191831381	chr4:167003004-167003005	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184287862	chr4:167003101-167003102	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145086645	chr4:167003124-167003125	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571151735	chr4:167003130-167003131	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs72697392	chr4:167003171-167003172	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs76007780	chr4:167003259-167003260	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs151093398	chr4:167003316-167003317	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567456118	chr4:167003327-167003328	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs79272484	chr4:167003349-167003350	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188975675	chr4:167003351-167003352	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371289699	chr4:167003352-167003353	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553113303	chr4:167003361-167003362	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139861721	chr4:167003413-167003414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567721537	chr4:167003419-167003420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149861698	chr4:167003467-167003468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550684366	chr4:167003470-167003471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569328687	chr4:167003526-167003527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145861735	chr4:167003550-167003551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114882141	chr4:167003563-167003564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567127727	chr4:167003576-167003577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79544207	chr4:167003590-167003591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555793478	chr4:167003593-167003594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
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
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
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Glioblastoma multiforme	22286061	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	16774939	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
intellectual deficit	22127048	CNVD
abnormal development	18461090	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:166987000-167002400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:166987000-167004800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr4:166993800-167004000	Weak transcription	Pancreas	Pancrea
4	chr4:167002400-167003400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:167003400-167007600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:167006400-167007400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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