Variant report

Variant	esv3467699
Chromosome Location	chr4:152788802-152794500
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	chr4:152791629..152793817-chr4:152795687..152797994,2	K562	blood:
2	chr4:152783651..152785975-chr4:152786154..152789103,2	K562	blood:

Extended variants
information (count: 252 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:252 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115128166	chr4:152788847-152788848	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs186790527	chr4:152788854-152788855	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs17027984	chr4:152788860-152788861	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs547037460	chr4:152788902-152788903	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs565771829	chr4:152788912-152788913	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs539134371	chr4:152789005-152789006	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs17027987	chr4:152789015-152789016	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs145830456	chr4:152789016-152789017	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs148987316	chr4:152789028-152789029	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs555699661	chr4:152789048-152789049	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs111433340	chr4:152789055-152789056	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs527616863	chr4:152789071-152789072	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs115403575	chr4:152789084-152789085	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs553043791	chr4:152789119-152789120	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs368510875	chr4:152789142-152789143	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs578062998	chr4:152789211-152789212	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545063465	chr4:152789262-152789263	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545699751	chr4:152789268-152789269	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs13109860	chr4:152789287-152789288	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs73862586	chr4:152789302-152789303	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs191449527	chr4:152789314-152789315	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs542960546	chr4:152789372-152789373	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs17027990	chr4:152789393-152789394	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs148167184	chr4:152789412-152789413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs76531070	chr4:152789434-152789435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141523860	chr4:152789463-152789464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs361168	chr4:152789474-152789475	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs73862587	chr4:152789483-152789484	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs75744111	chr4:152789505-152789506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184760032	chr4:152789507-152789508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140085551	chr4:152789519-152789520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145284651	chr4:152789534-152789535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567552736	chr4:152789543-152789544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187962169	chr4:152789644-152789645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368006248	chr4:152789647-152789648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553349509	chr4:152789665-152789666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs137928154	chr4:152789712-152789713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192848313	chr4:152789713-152789714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs72732124	chr4:152789729-152789730	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs185219214	chr4:152789746-152789747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542815413	chr4:152789758-152789759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs165581	chr4:152789786-152789787	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs573495375	chr4:152789828-152789829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142485766	chr4:152789835-152789836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9994589	chr4:152789836-152789837	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs190146162	chr4:152789842-152789843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181337820	chr4:152789874-152789875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112748677	chr4:152789891-152789892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532316551	chr4:152789907-152789908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549223660	chr4:152789910-152789911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152780800-152789000	Enhancers	Fetal Brain Male	brain
2	chr4:152781200-152794800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr4:152785200-152789400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr4:152786000-152789000	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr4:152786000-152789000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr4:152786200-152789200	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr4:152787600-152789000	Enhancers	Dnd41	blood
8	chr4:152788200-152789200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:152788600-152789200	ZNF genes & repeats	Pancreas	Pancrea
10	chr4:152788800-152789000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr4:152788800-152789000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr4:152789000-152789400	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr4:152789000-152791200	Weak transcription	Fetal Brain Male	brain
14	chr4:152789000-152796200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr4:152789200-152789400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
16	chr4:152789400-152793800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr4:152791200-152791400	Enhancers	Fetal Brain Male	brain
18	chr4:152791400-152800200	Weak transcription	Fetal Brain Male	brain
19	chr4:152793800-152794000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
20	chr4:152793800-152794000	Enhancers	Thymus	Thymus
21	chr4:152794000-152794400	Weak transcription	Aorta	Aorta
22	chr4:152794000-152795000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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