Variant report

Variant	esv2753949
Chromosome Location	chr4:152764038-152794700
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:152783651..152785975-chr4:152786154..152789103,2	K562	blood:
2	chr4:152791629..152793817-chr4:152795687..152797994,2	K562	blood:
3	chr4:152783651..152785975-chr4:152786154..152789103,2	K562	blood:

Extended variants
information (count: 1346 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:1346 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs173412	chr4:152764038-152764039	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs566596813	chr4:152764088-152764089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145381908	chr4:152764101-152764102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564971165	chr4:152764132-152764133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552223388	chr4:152764218-152764219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189709618	chr4:152764220-152764221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537610993	chr4:152764228-152764229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148810127	chr4:152764252-152764253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567988931	chr4:152764278-152764279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535489962	chr4:152764323-152764324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529253910	chr4:152764340-152764341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182367542	chr4:152764404-152764405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs72730192	chr4:152764420-152764421	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs72730193	chr4:152764439-152764440	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs187685133	chr4:152764461-152764462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142506491	chr4:152764462-152764463	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529967206	chr4:152764473-152764474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141750249	chr4:152764480-152764481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs398108132	chr4:152764482-152764483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544027805	chr4:152764503-152764504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs72730194	chr4:152764525-152764526	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs72730195	chr4:152764585-152764586	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs72730196	chr4:152764597-152764598	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs193236171	chr4:152764612-152764613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185705888	chr4:152764663-152764664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78369133	chr4:152764699-152764700	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374262641	chr4:152764775-152764776	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6843959	chr4:152764822-152764823	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs531428618	chr4:152764831-152764832	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549546850	chr4:152764854-152764855	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567878363	chr4:152764871-152764872	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535381643	chr4:152764913-152764914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs72730197	chr4:152764934-152764935	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs565948523	chr4:152764942-152764943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs116590777	chr4:152764958-152764959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs66473674	chr4:152765029-152765030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs72730198	chr4:152765035-152765036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150262292	chr4:152765040-152765041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145835418	chr4:152765046-152765047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs70943604	chr4:152765047-152765048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537678002	chr4:152765062-152765063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556012640	chr4:152765063-152765064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557115577	chr4:152765085-152765086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2666979	chr4:152765086-152765087	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs1484634	chr4:152765097-152765098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530512375	chr4:152765103-152765104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188637149	chr4:152765137-152765138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545759146	chr4:152765179-152765180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564058461	chr4:152765231-152765232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192120433	chr4:152765241-152765242	Weak transcription	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:168 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152763600-152764200	Enhancers	Left Ventricle	heart
2	chr4:152763800-152764200	Enhancers	Right Atrium	heart
3	chr4:152763800-152764200	Enhancers	Right Ventricle	heart
4	chr4:152764000-152764200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:152764000-152769600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr4:152764200-152766000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:152764200-152767200	Weak transcription	Right Ventricle	heart
8	chr4:152764400-152765000	Enhancers	H9 Cell Line	embryonic stem cell
9	chr4:152764600-152765200	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr4:152766000-152766200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr4:152768000-152772000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:152769400-152769600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:152769600-152770800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:152770800-152771200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr4:152771000-152771800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:152771200-152772200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:152771800-152772000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:152771800-152772200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr4:152771800-152772400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr4:152771800-152772800	Enhancers	Muscle Satellite Cultured Cells	--
21	chr4:152772000-152772200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:152772000-152772400	Enhancers	Placenta Amnion	Placenta Amnion
23	chr4:152772000-152772400	Enhancers	HMEC	breast
24	chr4:152772000-152772400	Enhancers	HSMM	muscle
25	chr4:152772000-152772600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr4:152772000-152772600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr4:152772000-152772600	Enhancers	Fetal Intestine Large	intestine
28	chr4:152772000-152772600	Bivalent Enhancer	NHDF-Ad	bronchial
29	chr4:152772000-152772600	Enhancers	NHEK	skin
30	chr4:152772200-152772400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr4:152772200-152772400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr4:152772200-152772400	Enhancers	Aorta	Aorta
33	chr4:152772200-152772600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr4:152772200-152772600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr4:152772200-152772800	Enhancers	Fetal Intestine Small	intestine
36	chr4:152772200-152773400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr4:152772200-152776400	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr4:152772400-152773000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr4:152772400-152773200	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr4:152772600-152773600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr4:152773000-152775600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr4:152773200-152775400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr4:152773600-152776000	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr4:152773600-152778800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr4:152774200-152775600	Enhancers	Fetal Thymus	thymus
46	chr4:152774400-152775000	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr4:152775400-152775800	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr4:152775600-152776400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr4:152775800-152776000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr4:152776000-152776200	Enhancers	HSMMtube	muscle

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