Variant report

Variant	esv3363273
Chromosome Location	chr2:40405031-40405471
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563758227	chr2:40405041-40405042	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs530769310	chr2:40405049-40405050	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs56248702	chr2:40405051-40405052	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549197142	chr2:40405122-40405123	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567452419	chr2:40405139-40405140	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs11686356	chr2:40405196-40405197	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
7	rs546295113	chr2:40405204-40405205	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530435707	chr2:40405207-40405208	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571248512	chr2:40405248-40405249	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs538232425	chr2:40405259-40405260	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556678037	chr2:40405287-40405288	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs441196	chr2:40405294-40405295	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs537248858	chr2:40405345-40405346	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs555886720	chr2:40405380-40405381	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs143422201	chr2:40405404-40405405	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs35890120	chr2:40405409-40405410	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs17025449	chr2:40405427-40405428	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs553371492	chr2:40405435-40405436	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs578098377	chr2:40405447-40405448	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112013977	chr2:40405458-40405459	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic 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
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40357800-40406400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:40392000-40413200	Weak transcription	Fetal Brain Female	brain
3	chr2:40392600-40405200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:40393000-40420000	Weak transcription	Fetal Kidney	kidney
5	chr2:40393600-40416800	Weak transcription	Fetal Stomach	stomach
6	chr2:40394200-40406800	Weak transcription	Colon Smooth Muscle	Colon
7	chr2:40396400-40405400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr2:40398400-40406200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:40400600-40426800	Weak transcription	Osteobl	bone
10	chr2:40401000-40405400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr2:40402200-40407400	Enhancers	Fetal Heart	heart
12	chr2:40403200-40405200	Weak transcription	HSMMtube	muscle
13	chr2:40404400-40406600	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr2:40404600-40405200	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr2:40404600-40405400	Genic enhancers	Primary monocytes fromperipheralblood	blood
16	chr2:40404600-40405800	Genic enhancers	HSMM	muscle
17	chr2:40404800-40405200	Strong transcription	Left Ventricle	heart
18	chr2:40404800-40405400	Strong transcription	Stomach Smooth Muscle	stomach
19	chr2:40404800-40405600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:40404800-40405600	Genic enhancers	Right Ventricle	heart
21	chr2:40404800-40405600	Genic enhancers	Dnd41	blood
22	chr2:40404800-40407200	Enhancers	Fetal Thymus	thymus
23	chr2:40405000-40405400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:40405000-40406200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:40405200-40405400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:40405200-40405600	Genic enhancers	Left Ventricle	heart
27	chr2:40405200-40406200	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr2:40405200-40407200	Enhancers	HSMMtube	muscle
29	chr2:40405400-40405600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr2:40405400-40405600	Enhancers	Duodenum Mucosa	Duodenum
31	chr2:40405400-40406000	Enhancers	Thymus	Thymus
32	chr2:40405400-40406200	Enhancers	Primary T cells from cord blood	blood
33	chr2:40405400-40406400	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr2:40405400-40407000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:40405400-40407200	Enhancers	Muscle Satellite Cultured Cells	--
36	chr2:40405400-40430000	Weak transcription	Stomach Smooth Muscle	stomach

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