Variant report

Variant	esv3359677
Chromosome Location	chr4:175623727-175628225
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	chr4:175626881..175629090-chr4:175631041..175633038,2	K562	blood:

Extended variants
information (count: 171 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:171 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs202033687	chr4:175623731-175623732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186802073	chr4:175623744-175623745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577195735	chr4:175623779-175623780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189750403	chr4:175623780-175623781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559982245	chr4:175623809-175623810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529091137	chr4:175623820-175623821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548855386	chr4:175623927-175623928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182055428	chr4:175623940-175623941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143234416	chr4:175623985-175623986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs76976795	chr4:175623986-175623987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570889469	chr4:175624002-175624003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189152952	chr4:175624005-175624006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547113112	chr4:175624078-175624079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs73867677	chr4:175624113-175624114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs193038787	chr4:175624145-175624146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs4498113	chr4:175624148-175624149	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs558997710	chr4:175624150-175624151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs183808665	chr4:175624153-175624154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs79693894	chr4:175624198-175624199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188297683	chr4:175624235-175624236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs2171139	chr4:175624314-175624315	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs577258399	chr4:175624370-175624371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs539800630	chr4:175624385-175624386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs553831637	chr4:175624406-175624407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12508745	chr4:175624432-175624433	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs12505229	chr4:175624437-175624438	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs562709851	chr4:175624465-175624466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs531514981	chr4:175624484-175624485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs545372119	chr4:175624495-175624496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112054538	chr4:175624531-175624532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs375665640	chr4:175624573-175624574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs12506873	chr4:175624600-175624601	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs374536328	chr4:175624635-175624636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535718474	chr4:175624667-175624668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs28688380	chr4:175624678-175624679	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs529336654	chr4:175624711-175624712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12506042	chr4:175624715-175624716	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs374166299	chr4:175624730-175624731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542211913	chr4:175624810-175624811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561189327	chr4:175624833-175624834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374241669	chr4:175624859-175624860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529900873	chr4:175624904-175624905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191931182	chr4:175624905-175624906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs59236895	chr4:175624948-175624949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558039866	chr4:175624970-175624971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571797909	chr4:175624975-175624976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34791728	chr4:175625064-175625065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545940976	chr4:175625119-175625120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188505149	chr4:175625127-175625128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553453340	chr4:175625142-175625143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Acute lymphoblastic leukemia	20067559	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
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	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
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
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	22127048	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	CNVD
Gastric adenocarcinoma	19115996	CNVD
Cancer	20164919	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175619600-175624000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr4:175624000-175624600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr4:175624600-175628400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr4:175628000-175629200	Enhancers	Fetal Kidney	kidney
5	chr4:175628200-175630600	Enhancers	A549	lung

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