Variant report

Variant	esv3510223
Chromosome Location	chr4:167003577-167005950
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 104 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79544207	chr4:167003590-167003591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555793478	chr4:167003593-167003594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115122516	chr4:167003611-167003612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs386681719	chr4:167003648-167003649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs79824579	chr4:167003649-167003650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543916519	chr4:167003685-167003686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs578051666	chr4:167003693-167003694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373002533	chr4:167003695-167003696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190671117	chr4:167003746-167003747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs16999566	chr4:167003769-167003770	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs528322594	chr4:167003791-167003792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35491330	chr4:167003811-167003812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540184018	chr4:167003815-167003816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561331481	chr4:167003830-167003831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560679715	chr4:167003834-167003835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78383247	chr4:167003835-167003836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370221164	chr4:167003839-167003840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148941745	chr4:167003852-167003853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532894047	chr4:167003863-167003864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs145640642	chr4:167003890-167003891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs180679831	chr4:167003891-167003892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146535370	chr4:167003925-167003926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556132985	chr4:167003943-167003944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567644012	chr4:167003974-167003975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538212754	chr4:167003975-167003976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141306487	chr4:167003987-167003988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2646917	chr4:167004020-167004021	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs148041369	chr4:167004025-167004026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141727050	chr4:167004050-167004051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572735691	chr4:167004062-167004063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540113911	chr4:167004086-167004087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150177298	chr4:167004092-167004093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529165939	chr4:167004098-167004099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544152585	chr4:167004142-167004143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570704328	chr4:167004227-167004228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555111436	chr4:167004236-167004237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539634196	chr4:167004273-167004274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147836065	chr4:167004316-167004317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372321920	chr4:167004408-167004409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533041278	chr4:167004434-167004435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112619127	chr4:167004444-167004445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186166289	chr4:167004462-167004463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs74948170	chr4:167004515-167004516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115777640	chr4:167004540-167004541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs111702452	chr4:167004621-167004622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575053176	chr4:167004651-167004652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs527683717	chr4:167004664-167004665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567928368	chr4:167004704-167004705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538166528	chr4:167004731-167004732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113255426	chr4:167004769-167004770	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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:166987000-167004800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr4:166993800-167004000	Weak transcription	Pancreas	Pancrea
3	chr4:167003400-167007600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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