Variant report

Variant	esv10133
Chromosome Location	chr4:152762084-152778976
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 692 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:692 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550819340	chr4:152762141-152762142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs184142885	chr4:152762185-152762186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560338988	chr4:152762262-152762263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs361193	chr4:152762302-152762303	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs141837739	chr4:152762343-152762344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571051778	chr4:152762346-152762347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs60550863	chr4:152762365-152762366	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs550289806	chr4:152762399-152762400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568835313	chr4:152762454-152762455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187975519	chr4:152762470-152762471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs17027924	chr4:152762483-152762484	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs573084417	chr4:152762511-152762512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs201760145	chr4:152762529-152762530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs150625115	chr4:152762540-152762541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558859944	chr4:152762548-152762549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs117241772	chr4:152762570-152762571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544630115	chr4:152762577-152762578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567138921	chr4:152762713-152762714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs139761449	chr4:152762874-152762875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs71593796	chr4:152762925-152762926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs199923370	chr4:152762933-152762934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35206686	chr4:152762935-152762936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs397878318	chr4:152762937-152762938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs202170475	chr4:152762938-152762939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567656917	chr4:152762949-152762950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs180884226	chr4:152762972-152762973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560201218	chr4:152762994-152762995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187057420	chr4:152763006-152763007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192392000	chr4:152763008-152763009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs361195	chr4:152763021-152763022	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs375368915	chr4:152763047-152763048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531926136	chr4:152763050-152763051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550466088	chr4:152763143-152763144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143728164	chr4:152763157-152763158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs361196	chr4:152763180-152763181	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs113512056	chr4:152763216-152763217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563104539	chr4:152763283-152763284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs112669137	chr4:152763297-152763298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs111637624	chr4:152763306-152763307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571202504	chr4:152763353-152763354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs34810039	chr4:152763354-152763355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs79600144	chr4:152763367-152763368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs79380783	chr4:152763368-152763369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs76989308	chr4:152763382-152763383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs376229279	chr4:152763426-152763427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs75869451	chr4:152763473-152763474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs186905961	chr4:152763531-152763532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs361197	chr4:152763556-152763557	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs190798031	chr4:152763588-152763589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs541816107	chr4:152763600-152763601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	17588203	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152759800-152763800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:152761000-152763800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:152762200-152762800	Enhancers	Pancreas	Pancrea
4	chr4:152763200-152764000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr4:152763600-152764200	Enhancers	Left Ventricle	heart
6	chr4:152763800-152764000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:152763800-152764200	Enhancers	Right Atrium	heart
8	chr4:152763800-152764200	Enhancers	Right Ventricle	heart
9	chr4:152764000-152764200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr4:152764000-152769600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:152764200-152766000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr4:152764200-152767200	Weak transcription	Right Ventricle	heart
13	chr4:152764400-152765000	Enhancers	H9 Cell Line	embryonic stem cell
14	chr4:152764600-152765200	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr4:152766000-152766200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr4:152768000-152772000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:152769400-152769600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:152769600-152770800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr4:152770800-152771200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr4:152771000-152771800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:152771200-152772200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr4:152771800-152772000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:152771800-152772200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr4:152771800-152772400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr4:152771800-152772800	Enhancers	Muscle Satellite Cultured Cells	--
26	chr4:152772000-152772200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr4:152772000-152772400	Enhancers	Placenta Amnion	Placenta Amnion
28	chr4:152772000-152772400	Enhancers	HMEC	breast
29	chr4:152772000-152772400	Enhancers	HSMM	muscle
30	chr4:152772000-152772600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr4:152772000-152772600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr4:152772000-152772600	Enhancers	Fetal Intestine Large	intestine
33	chr4:152772000-152772600	Bivalent Enhancer	NHDF-Ad	bronchial
34	chr4:152772000-152772600	Enhancers	NHEK	skin
35	chr4:152772200-152772400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr4:152772200-152772400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr4:152772200-152772400	Enhancers	Aorta	Aorta
38	chr4:152772200-152772600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr4:152772200-152772600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr4:152772200-152772800	Enhancers	Fetal Intestine Small	intestine
41	chr4:152772200-152773400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr4:152772200-152776400	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr4:152772400-152773000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr4:152772400-152773200	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr4:152772600-152773600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr4:152773000-152775600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr4:152773200-152775400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr4:152773600-152776000	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr4:152773600-152778800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr4:152774200-152775600	Enhancers	Fetal Thymus	thymus

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