Variant report

Variant	esv3381409
Chromosome Location	chr4:151115527-151117625
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 133 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:133 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548622634	chr4:151115572-151115573	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs568592647	chr4:151115597-151115598	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs74960033	chr4:151115603-151115604	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142877694	chr4:151115613-151115614	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147436603	chr4:151115621-151115622	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7667318	chr4:151115634-151115635	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs138259781	chr4:151115681-151115682	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185961279	chr4:151115717-151115718	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs140204200	chr4:151115718-151115719	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141844571	chr4:151115722-151115723	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554935182	chr4:151115735-151115736	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs150628898	chr4:151115778-151115779	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575532300	chr4:151115788-151115789	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs557431051	chr4:151115819-151115820	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs58813780	chr4:151115863-151115864	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs57453981	chr4:151115882-151115883	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563965695	chr4:151115997-151115998	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs368306302	chr4:151116010-151116011	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191236861	chr4:151116063-151116064	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139770261	chr4:151116075-151116076	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370132345	chr4:151116081-151116082	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370874110	chr4:151116114-151116115	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs367634750	chr4:151116227-151116228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112204486	chr4:151116228-151116229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559691122	chr4:151116229-151116230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374664291	chr4:151116230-151116231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548824107	chr4:151116245-151116246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562236199	chr4:151116248-151116249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs67975068	chr4:151116295-151116296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531286421	chr4:151116304-151116305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs28429971	chr4:151116308-151116309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs28567834	chr4:151116327-151116328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs62338237	chr4:151116329-151116330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs62338238	chr4:151116333-151116334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs62338239	chr4:151116334-151116335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183220931	chr4:151116342-151116343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370622821	chr4:151116345-151116346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371864741	chr4:151116348-151116349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs61263440	chr4:151116349-151116350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs58463906	chr4:151116359-151116360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs59963534	chr4:151116360-151116361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs28615470	chr4:151116367-151116368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs55794873	chr4:151116368-151116369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566814306	chr4:151116373-151116374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535469287	chr4:151116374-151116375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs57210556	chr4:151116385-151116386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs56021086	chr4:151116386-151116387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs58957341	chr4:151116387-151116388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs55717932	chr4:151116388-151116389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376165158	chr4:151116389-151116390	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
Intellectual disability	22102821	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
Esophageal squamous carcinoma	18350619	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
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	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
Esophageal cancer	21851588	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	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
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	17588203	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151097600-151129000	Weak transcription	Lung	lung
2	chr4:151098200-151120000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr4:151098200-151128000	Weak transcription	Fetal Stomach	stomach
4	chr4:151100000-151127800	Weak transcription	Osteobl	bone
5	chr4:151100200-151116800	Weak transcription	HSMM	muscle
6	chr4:151101600-151127600	Weak transcription	Colon Smooth Muscle	Colon
7	chr4:151103200-151138000	Weak transcription	NH-A	brain
8	chr4:151104200-151127400	Weak transcription	Fetal Brain Female	brain
9	chr4:151104600-151119000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:151108600-151130000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr4:151108800-151120200	Weak transcription	A549	lung
12	chr4:151108800-151129000	Weak transcription	Brain Hippocampus Middle	brain
13	chr4:151109000-151126400	Weak transcription	Fetal Lung	lung
14	chr4:151109600-151116800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr4:151109800-151116800	Weak transcription	Brain Germinal Matrix	brain
16	chr4:151112600-151128200	Weak transcription	Left Ventricle	heart
17	chr4:151112800-151115800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr4:151114000-151118400	Weak transcription	NHLF	lung
19	chr4:151114200-151154200	Weak transcription	Aorta	Aorta
20	chr4:151114600-151116200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr4:151115000-151117200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr4:151115200-151116000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr4:151115400-151127200	Weak transcription	HSMMtube	muscle
24	chr4:151115800-151116000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr4:151116000-151119400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:151116200-151119200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr4:151116800-151117400	Strong transcription	HSMM	muscle
28	chr4:151116800-151117600	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr4:151116800-151117600	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr4:151116800-151118200	Enhancers	Brain Germinal Matrix	brain
31	chr4:151117200-151117600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr4:151117200-151117800	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr4:151117200-151117800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr4:151117400-151117800	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr4:151117400-151120400	Weak transcription	HSMM	muscle
36	chr4:151117600-151119000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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