Variant report

Variant	esv3380868
Chromosome Location	chr4:60342657-60344705
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555536221	chr4:60344048-60344049	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs77358095	chr4:60344064-60344065	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs370531811	chr4:60344084-60344085	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs185457546	chr4:60344098-60344099	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs147048976	chr4:60344213-60344214	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs577687013	chr4:60344220-60344221	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs545039880	chr4:60344251-60344252	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs151024740	chr4:60344287-60344288	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs572083461	chr4:60344301-60344302	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs542402910	chr4:60344336-60344337	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs543755763	chr4:60344361-60344362	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs531794685	chr4:60344389-60344390	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs543950657	chr4:60344441-60344442	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs550014713	chr4:60344462-60344463	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs564186437	chr4:60344469-60344470	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs1511408	chr4:60344490-60344491	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs532337672	chr4:60344493-60344494	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs547753130	chr4:60344499-60344500	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs140886646	chr4:60344509-60344510	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs150157489	chr4:60344510-60344511	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs138599392	chr4:60344529-60344530	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs567422490	chr4:60344552-60344553	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs1511409	chr4:60344555-60344556	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs370600567	chr4:60344559-60344560	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs556465203	chr4:60344565-60344566	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs374308576	chr4:60344567-60344568	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs538586623	chr4:60344570-60344571	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs553724941	chr4:60344585-60344586	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
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
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Multiple myeloma	16616336	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
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	20369283	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:60344000-60344600	ZNF genes & repeats	Adipose Nuclei	Adipose

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