Variant report

Variant	esv3336742
Chromosome Location	chr2:40581305-40581886
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73926616	chr2:40581324-40581325	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs76188206	chr2:40581421-40581422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557912545	chr2:40581431-40581432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575963216	chr2:40581449-40581450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs6738580	chr2:40581450-40581451	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs6738673	chr2:40581476-40581477	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs182841763	chr2:40581507-40581508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542159313	chr2:40581514-40581515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs202237116	chr2:40581523-40581524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200248487	chr2:40581524-40581525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs397870045	chr2:40581525-40581526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574403542	chr2:40581535-40581536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539043082	chr2:40581536-40581537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187463615	chr2:40581545-40581546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs369507447	chr2:40581548-40581549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs149538849	chr2:40581589-40581590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564439496	chr2:40581636-40581637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs143867545	chr2:40581652-40581653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs77907628	chr2:40581752-40581753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572599622	chr2:40581787-40581788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs114879874	chr2:40581799-40581800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555102322	chr2:40581817-40581818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs193182236	chr2:40581861-40581862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22522925	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40552800-40590600	Weak transcription	Fetal Kidney	kidney
2	chr2:40571600-40582600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr2:40574600-40586000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:40574600-40590600	Weak transcription	Aorta	Aorta
5	chr2:40576800-40587600	Weak transcription	NH-A	brain
6	chr2:40578400-40582000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr2:40578400-40583400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:40578600-40583000	Enhancers	Fetal Heart	heart
9	chr2:40578800-40581600	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr2:40579400-40582400	Enhancers	Rectal Smooth Muscle	rectum
11	chr2:40579600-40586800	Enhancers	Colon Smooth Muscle	Colon
12	chr2:40579800-40581800	Enhancers	Fetal Stomach	stomach
13	chr2:40579800-40582000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:40580000-40581600	Weak transcription	Stomach Smooth Muscle	stomach
15	chr2:40580200-40583000	Weak transcription	Right Ventricle	heart
16	chr2:40580200-40583200	Enhancers	Hela-S3	cervix
17	chr2:40580200-40587600	Weak transcription	NHLF	lung
18	chr2:40580600-40584800	Weak transcription	Osteobl	bone
19	chr2:40580600-40586800	Weak transcription	NHDF-Ad	bronchial
20	chr2:40580600-40587600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:40580600-40587800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:40580600-40587800	Weak transcription	HMEC	breast
23	chr2:40581000-40581600	Weak transcription	Right Atrium	heart
24	chr2:40581000-40581800	Enhancers	Psoas Muscle	Psoas
25	chr2:40581000-40582400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:40581200-40581600	Weak transcription	Left Ventricle	heart
27	chr2:40581200-40587600	Weak transcription	HSMM	muscle
28	chr2:40581200-40590400	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr2:40581200-40591800	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr2:40581600-40581800	Enhancers	Left Ventricle	heart
31	chr2:40581600-40581800	Enhancers	Right Atrium	heart
32	chr2:40581600-40583200	Enhancers	Stomach Smooth Muscle	stomach
33	chr2:40581600-40591600	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr2:40581800-40582600	Weak transcription	Right Atrium	heart
35	chr2:40581800-40582800	Weak transcription	Left Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links