Variant report

Variant	esv3434406
Chromosome Location	chr4:47455194-47455662
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:47455346..47457832-chr4:47566680..47568849,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145737909	chr4:47455197-47455198	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs77794579	chr4:47455227-47455228	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201049030	chr4:47455244-47455245	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372914254	chr4:47455276-47455277	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs62297857	chr4:47455278-47455279	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369162239	chr4:47455280-47455281	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190755020	chr4:47455360-47455361	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550789877	chr4:47455364-47455365	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183579777	chr4:47455436-47455437	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569562051	chr4:47455455-47455456	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139026135	chr4:47455456-47455457	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375471668	chr4:47455530-47455531	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547930961	chr4:47455547-47455548	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566487357	chr4:47455570-47455571	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533521436	chr4:47455576-47455577	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536442788	chr4:47455590-47455591	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7681754	chr4:47455592-47455593	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs570790212	chr4:47455607-47455608	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7656397	chr4:47455614-47455615	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs556434603	chr4:47455618-47455619	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112351211	chr4:47455655-47455656	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Bipolar disorder	19214233	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:47436800-47465000	Weak transcription	Gastric	stomach
2	chr4:47438600-47464200	Weak transcription	Small Intestine	intestine
3	chr4:47441000-47456000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr4:47442200-47464000	Weak transcription	Left Ventricle	heart
5	chr4:47443600-47464000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:47445400-47465000	Weak transcription	Lung	lung
7	chr4:47445600-47464000	Weak transcription	Pancreas	Pancrea
8	chr4:47445600-47464200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr4:47445600-47464200	Weak transcription	Thymus	Thymus
10	chr4:47445800-47465000	Weak transcription	Aorta	Aorta
11	chr4:47446000-47465000	Weak transcription	Esophagus	oesophagus
12	chr4:47446600-47463000	Weak transcription	Brain Anterior Caudate	brain
13	chr4:47447000-47461400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr4:47449600-47464200	Weak transcription	Fetal Brain Male	brain
15	chr4:47449800-47465000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr4:47450600-47464400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr4:47450600-47464600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr4:47450600-47464800	Weak transcription	Colonic Mucosa	Colon
19	chr4:47450600-47464800	Weak transcription	A549	lung
20	chr4:47450800-47456000	Weak transcription	NHEK	skin
21	chr4:47450800-47463600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr4:47451000-47457200	Strong transcription	Primary T cells from cord blood	blood
23	chr4:47451000-47460800	Weak transcription	HMEC	breast
24	chr4:47451000-47464400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr4:47451400-47456400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr4:47451400-47458800	Strong transcription	Osteobl	bone
27	chr4:47451400-47462400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr4:47451400-47464000	Weak transcription	Colon Smooth Muscle	Colon
29	chr4:47451800-47456200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr4:47451800-47456400	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr4:47451800-47458200	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr4:47451800-47458200	Strong transcription	Dnd41	blood
33	chr4:47451800-47461800	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr4:47451800-47462200	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr4:47451800-47464600	Weak transcription	Hela-S3	cervix
36	chr4:47452000-47455600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr4:47452000-47456400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr4:47452000-47456600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr4:47452000-47456600	Strong transcription	Primary B cells from peripheral blood	blood
40	chr4:47452000-47456600	Strong transcription	Primary hematopoietic stem cells	blood
41	chr4:47452000-47456600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr4:47452000-47456600	Strong transcription	Placenta	Placenta
43	chr4:47452000-47458200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr4:47452000-47458200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr4:47452000-47459600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr4:47452000-47460200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr4:47452000-47461600	Strong transcription	Primary B cells from cord blood	blood
48	chr4:47452000-47464600	Weak transcription	K562	blood
49	chr4:47452200-47459400	Strong transcription	HSMM	muscle
50	chr4:47452400-47455800	Weak transcription	Fetal Lung	lung

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