Variant report

Variant	esv16775
Chromosome Location	chr4:90101108-90107506
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	chr4:90072737..90075893-chr4:90099370..90102220,3	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs484123	chr4:90103218-90103219	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs573880959	chr4:90103238-90103239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs61670865	chr4:90103239-90103240	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs33968023	chr4:90103297-90103298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs60409511	chr4:90103310-90103311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562477141	chr4:90103322-90103323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532795640	chr4:90103335-90103336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs1513813	chr4:90103388-90103389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189099827	chr4:90103436-90103437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376825444	chr4:90103483-90103484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182215777	chr4:90103495-90103496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535034156	chr4:90103513-90103514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546766072	chr4:90103527-90103528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs568348855	chr4:90103546-90103547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs149564459	chr4:90105038-90105039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182858383	chr4:90105053-90105054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534195158	chr4:90105066-90105067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187240014	chr4:90105082-90105083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190584635	chr4:90105105-90105106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs538170018	chr4:90105137-90105138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs28626911	chr4:90105151-90105152	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs183910456	chr4:90105163-90105164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs147322582	chr4:90105186-90105187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs538618285	chr4:90105214-90105215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553838363	chr4:90105374-90105375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs553450502	chr4:90105447-90105448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs572163666	chr4:90105460-90105461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571665143	chr4:90105507-90105508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs542206199	chr4:90105527-90105528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560595799	chr4:90105530-90105531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs188908642	chr4:90105567-90105568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs542792536	chr4:90105607-90105608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs373918767	chr4:90105659-90105660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544922401	chr4:90105677-90105678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs192633948	chr4:90105766-90105767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs667628	chr4:90105767-90105768	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs139397209	chr4:90105789-90105790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs566962613	chr4:90105803-90105804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs6532127	chr4:90105832-90105833	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs143185812	chr4:90105835-90105836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs567699954	chr4:90105871-90105872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs570434527	chr4:90105936-90105937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs537712537	chr4:90105937-90105938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs539457012	chr4:90105938-90105939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs147519813	chr4:90105941-90105942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs538834948	chr4:90105955-90105956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs553591086	chr4:90105989-90105990	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Obesity	20622171	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:90103200-90103600	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr4:90105000-90105800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:90105600-90106000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr4:90105600-90106000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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