Variant report

Variant	esv16297
Chromosome Location	chr4:76318232-76319852
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538218153	chr4:76318256-76318257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556891973	chr4:76318259-76318260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs6850076	chr4:76318260-76318261	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs1389440	chr4:76318267-76318268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370091715	chr4:76318274-76318275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs72862728	chr4:76318287-76318288	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs574139310	chr4:76318301-76318302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149536655	chr4:76318302-76318303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs578156661	chr4:76318313-76318314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545554269	chr4:76318319-76318320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562302839	chr4:76318362-76318363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528962329	chr4:76318374-76318375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144112666	chr4:76318375-76318376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575596524	chr4:76318385-76318386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542065009	chr4:76318412-76318413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562273021	chr4:76318424-76318425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527802325	chr4:76318439-76318440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370285354	chr4:76318440-76318441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561034731	chr4:76318490-76318491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs6841628	chr4:76318507-76318508	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs188917231	chr4:76318533-76318534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs6855400	chr4:76318548-76318549	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs532060687	chr4:76318566-76318567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550286707	chr4:76318578-76318579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568828504	chr4:76318579-76318580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533153554	chr4:76318580-76318581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190801609	chr4:76318587-76318588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535881629	chr4:76318588-76318589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs78816435	chr4:76318614-76318615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371921590	chr4:76318661-76318662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139820645	chr4:76318680-76318681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143146164	chr4:76318683-76318684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs73825482	chr4:76318687-76318688	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs7684397	chr4:76318706-76318707	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs7669508	chr4:76318733-76318734	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs539131677	chr4:76318798-76318799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7697608	chr4:76318799-76318800	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs575552705	chr4:76318818-76318819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375671357	chr4:76318827-76318828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146221637	chr4:76318900-76318901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561207244	chr4:76318908-76318909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183138929	chr4:76318925-76318926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187432228	chr4:76318977-76318978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2199606	chr4:76318979-76318980	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs564713348	chr4:76319025-76319026	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs532218597	chr4:76319049-76319050	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs535506652	chr4:76319076-76319077	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs142864757	chr4:76319126-76319127	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs191915473	chr4:76319195-76319196	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs369396272	chr4:76319246-76319247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
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
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	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
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
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Abnormal phenotypes	18644119	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Autism	18414403	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76317200-76321800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr4:76317400-76319000	Weak transcription	Pancreas	Pancrea
3	chr4:76319000-76319200	ZNF genes & repeats	Pancreas	Pancrea

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