Variant report

Variant	esv3377198
Chromosome Location	chr4:47124595-47126943
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	chr4:46939236..46940006-chr4:47124315..47124979,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34403048	chr4:47124646-47124647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs80337886	chr4:47124647-47124648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs397752509	chr4:47124648-47124649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371353201	chr4:47124743-47124744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573502157	chr4:47124806-47124807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374147663	chr4:47124842-47124843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541914328	chr4:47124863-47124864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368042915	chr4:47124884-47124885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560249767	chr4:47124967-47124968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs182990524	chr4:47124970-47124971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546400898	chr4:47124978-47124979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546153024	chr4:47125076-47125077	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564340995	chr4:47125090-47125091	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531993179	chr4:47125094-47125095	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs370447163	chr4:47125103-47125104	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550210586	chr4:47125121-47125122	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568666967	chr4:47125122-47125123	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529551888	chr4:47125175-47125176	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:47121000-47124600	Weak transcription	Fetal Lung	lung
2	chr4:47123000-47124600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr4:47123400-47124600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr4:47124400-47125000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr4:47124600-47124800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr4:47124600-47124800	Enhancers	Hela-S3	cervix
7	chr4:47124600-47125000	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr4:47124600-47125200	Enhancers	Adipose Nuclei	Adipose
9	chr4:47124600-47125200	Enhancers	Brain Angular Gyrus	brain
10	chr4:47124600-47125200	Enhancers	Brain Cingulate Gyrus	brain
11	chr4:47124600-47125200	Enhancers	Brain Hippocampus Middle	brain
12	chr4:47124600-47125200	Enhancers	Fetal Intestine Small	intestine
13	chr4:47124600-47125200	Enhancers	Fetal Lung	lung
14	chr4:47124800-47125000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr4:47124800-47125200	Enhancers	Liver	Liver
16	chr4:47124800-47125200	Enhancers	Brain Substantia Nigra	brain
17	chr4:47124800-47125200	Enhancers	Fetal Kidney	kidney
18	chr4:47125000-47125200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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