Variant report

Variant	esv3356555
Chromosome Location	chr4:30277854-30282052
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 270 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:270 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111494627	chr4:30277854-30277855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540273481	chr4:30277857-30277858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186688054	chr4:30277859-30277860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532346503	chr4:30277866-30277867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545692598	chr4:30277911-30277912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs61794113	chr4:30277929-30277930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531383914	chr4:30277943-30277944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34057733	chr4:30277963-30277964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547944828	chr4:30277969-30277970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79115615	chr4:30278005-30278006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192075226	chr4:30278024-30278025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547086200	chr4:30278038-30278039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570417925	chr4:30278056-30278057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112480904	chr4:30278083-30278084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539387489	chr4:30278109-30278110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs76447397	chr4:30278141-30278142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569538468	chr4:30278143-30278144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183825398	chr4:30278176-30278177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs16883183	chr4:30278180-30278181	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs555099438	chr4:30278201-30278202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138931801	chr4:30278230-30278231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189089852	chr4:30278239-30278240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs1469783	chr4:30278250-30278251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553927118	chr4:30278280-30278281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376167341	chr4:30278281-30278282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544266730	chr4:30278291-30278292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200097965	chr4:30278374-30278375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556012823	chr4:30278375-30278376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147454164	chr4:30278437-30278438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12644187	chr4:30278520-30278521	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs139881399	chr4:30278526-30278527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145400043	chr4:30278551-30278552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527434751	chr4:30278567-30278568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547466710	chr4:30278777-30278778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570386982	chr4:30278779-30278780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377563831	chr4:30278787-30278788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549775743	chr4:30278811-30278812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569575432	chr4:30278847-30278848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78683567	chr4:30278888-30278889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554906779	chr4:30278894-30278895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568639061	chr4:30278915-30278916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534064080	chr4:30278935-30278936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs367889898	chr4:30279092-30279093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554221266	chr4:30279103-30279104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576890693	chr4:30279112-30279113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565580162	chr4:30279120-30279121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs75977558	chr4:30279171-30279172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556090882	chr4:30279257-30279258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528372061	chr4:30279259-30279260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148446129	chr4:30279260-30279261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	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
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Tetralogy of Fallot	22912587	CNVD
Renal cell carcinoma	18194544	CNVD
Colorectal cancer	16774939	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:30277800-30280400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:30282000-30282800	Enhancers	Pancreatic Islets	Pancreatic Islet

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