Variant report

Variant	esv3466412
Chromosome Location	chr4:152790083-152794876
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:

Extended variants
information (count: 215 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:215 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573333276	chr4:152790096-152790097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs139815045	chr4:152790131-152790132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558973907	chr4:152790136-152790137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2628086	chr4:152790161-152790162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187979554	chr4:152790192-152790193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs116510046	chr4:152790193-152790194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558542003	chr4:152790200-152790201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575429253	chr4:152790239-152790240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2629991	chr4:152790286-152790287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs180887437	chr4:152790369-152790370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533506	chr4:152790390-152790391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533497	chr4:152790396-152790397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111649650	chr4:152790397-152790398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs17027993	chr4:152790434-152790435	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs57567968	chr4:152790473-152790474	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs186138782	chr4:152790476-152790477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532245465	chr4:152790477-152790478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9997313	chr4:152790508-152790509	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs568894721	chr4:152790510-152790511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561084120	chr4:152790526-152790527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147255394	chr4:152790557-152790558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570473212	chr4:152790562-152790563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs17027997	chr4:152790580-152790581	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs361167	chr4:152790628-152790629	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs534136865	chr4:152790632-152790633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs71618383	chr4:152790636-152790637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559065391	chr4:152790662-152790663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577636045	chr4:152790692-152790693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538507176	chr4:152790728-152790729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144249201	chr4:152790740-152790741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557032254	chr4:152790767-152790768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs367744848	chr4:152790777-152790778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542754696	chr4:152790793-152790794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560811743	chr4:152790804-152790805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142316958	chr4:152790842-152790843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs151278989	chr4:152790894-152790895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564703012	chr4:152790897-152790898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192189480	chr4:152790915-152790916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550437801	chr4:152790929-152790930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs60850965	chr4:152790936-152790937	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs530029846	chr4:152790964-152790965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548521583	chr4:152790971-152790972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182267863	chr4:152790985-152790986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186937309	chr4:152791006-152791007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs526984	chr4:152791109-152791110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552821927	chr4:152791134-152791135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11445977	chr4:152791135-152791136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs526868	chr4:152791158-152791159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571043218	chr4:152791159-152791160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574506010	chr4:152791195-152791196	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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152781200-152794800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr4:152789000-152791200	Weak transcription	Fetal Brain Male	brain
3	chr4:152789000-152796200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:152789400-152793800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:152791200-152791400	Enhancers	Fetal Brain Male	brain
6	chr4:152791400-152800200	Weak transcription	Fetal Brain Male	brain
7	chr4:152793800-152794000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:152793800-152794000	Enhancers	Thymus	Thymus
9	chr4:152794000-152794400	Weak transcription	Aorta	Aorta
10	chr4:152794000-152795000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr4:152794600-152796800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr4:152794800-152795600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr4:152794800-152796400	Enhancers	H9 Cell Line	embryonic stem cell
14	chr4:152794800-152796400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr4:152794800-152796600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr4:152794800-152796600	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr4:152794800-152796600	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr4:152794800-152797400	Enhancers	H1 Cell Line	embryonic stem cell

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