Variant report

Variant	esv3379073
Chromosome Location	chr4:47603428-47604961
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186055235	chr4:47603451-47603452	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565161060	chr4:47603527-47603528	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35003163	chr4:47603536-47603537	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573719551	chr4:47603537-47603538	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575038302	chr4:47603542-47603543	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374741815	chr4:47603565-47603566	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541354566	chr4:47603592-47603593	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559995231	chr4:47603608-47603609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7670471	chr4:47603622-47603623	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs199583228	chr4:47603633-47603634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111815334	chr4:47603667-47603668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs77906511	chr4:47603725-47603726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552137610	chr4:47603754-47603755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563893700	chr4:47603760-47603761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531657685	chr4:47603792-47603793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549618416	chr4:47603793-47603794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552246663	chr4:47603794-47603795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567925191	chr4:47603831-47603832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs16860440	chr4:47603855-47603856	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs548323184	chr4:47603920-47603921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530893294	chr4:47603974-47603975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533972603	chr4:47603997-47603998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558924555	chr4:47604006-47604007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188855215	chr4:47604032-47604033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538538940	chr4:47604070-47604071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201314372	chr4:47604134-47604135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552563504	chr4:47604140-47604141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542436273	chr4:47604149-47604150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560026858	chr4:47604223-47604224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6835144	chr4:47604236-47604237	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs150017576	chr4:47604359-47604360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564113975	chr4:47604390-47604391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531169149	chr4:47604442-47604443	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549706261	chr4:47604448-47604449	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561646037	chr4:47604451-47604452	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529082197	chr4:47604456-47604457	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547173573	chr4:47604465-47604466	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs6817366	chr4:47604493-47604494	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs115485656	chr4:47604512-47604513	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181285427	chr4:47604532-47604533	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570832267	chr4:47604624-47604625	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs113351846	chr4:47604644-47604645	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs375650636	chr4:47604739-47604740	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs538230225	chr4:47604746-47604747	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs556941073	chr4:47604787-47604788	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs369955999	chr4:47604833-47604834	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs6834954	chr4:47604873-47604874	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs73238611	chr4:47604936-47604937	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs185573032	chr4:47604940-47604941	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
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
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	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
Olfactory neuroblastoma	18408657	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	16616336	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Renal cell carcinoma	18765545	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Bipolar disorder	19214233	CNVD
Pancreatic cancer	17952125	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:47575000-47610200	Weak transcription	Fetal Brain Male	brain
2	chr4:47586200-47605400	Weak transcription	Fetal Stomach	stomach
3	chr4:47589800-47605400	Weak transcription	Gastric	stomach
4	chr4:47589800-47605400	Weak transcription	Spleen	Spleen
5	chr4:47590600-47606000	Weak transcription	NHLF	lung
6	chr4:47593400-47605400	Weak transcription	Pancreas	Pancrea
7	chr4:47593400-47608200	Weak transcription	Esophagus	oesophagus
8	chr4:47593400-47614200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:47594200-47605400	Weak transcription	Brain Substantia Nigra	brain
10	chr4:47594200-47607000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr4:47594200-47608000	Weak transcription	Brain Anterior Caudate	brain
12	chr4:47594200-47610200	Weak transcription	Ovary	ovary
13	chr4:47594200-47614400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr4:47594200-47614600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr4:47594400-47607000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr4:47594400-47607400	Weak transcription	HSMMtube	muscle
17	chr4:47594600-47606000	Weak transcription	Fetal Lung	lung
18	chr4:47594800-47605000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr4:47594800-47606800	Weak transcription	Primary B cells from cord blood	blood
20	chr4:47595000-47603600	Weak transcription	Primary B cells from peripheral blood	blood
21	chr4:47595000-47607000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr4:47595200-47604800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr4:47595400-47605600	Weak transcription	Liver	Liver
24	chr4:47595800-47605400	Weak transcription	Osteobl	bone
25	chr4:47595800-47614400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:47598000-47604400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr4:47598200-47614200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr4:47598600-47604600	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr4:47600800-47605400	Weak transcription	HSMM	muscle
30	chr4:47600800-47606600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr4:47601400-47605200	Weak transcription	Right Ventricle	heart
32	chr4:47601400-47605400	Weak transcription	Placenta	Placenta
33	chr4:47601800-47641000	Weak transcription	Fetal Heart	heart
34	chr4:47602000-47605400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr4:47602200-47604800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr4:47602400-47614600	Weak transcription	Aorta	Aorta
37	chr4:47602600-47603600	Strong transcription	Left Ventricle	heart
38	chr4:47603600-47604600	Weak transcription	Left Ventricle	heart
39	chr4:47604400-47606200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr4:47604600-47605600	ZNF genes & repeats	Left Ventricle	heart
41	chr4:47604600-47605600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
42	chr4:47604800-47605600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr4:47604800-47605800	Strong transcription	Muscle Satellite Cultured Cells	--

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