Variant report

Variant	esv988593
Chromosome Location	chr4:175620441-175627158
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: 223 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:223 , 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	rs114879976	chr4:175620554-175620555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs568944093	chr4:175620564-175620565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537305088	chr4:175620603-175620604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550302249	chr4:175620641-175620642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs58410652	chr4:175620704-175620705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563993094	chr4:175620731-175620732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142115632	chr4:175620740-175620741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185070367	chr4:175620810-175620811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs35505443	chr4:175620914-175620915	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs145473229	chr4:175620915-175620916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs67014003	chr4:175620957-175620958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554657928	chr4:175620969-175620970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571085171	chr4:175620982-175620983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2877826	chr4:175620989-175620990	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs11934230	chr4:175620999-175621000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140184660	chr4:175621000-175621001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181210496	chr4:175621001-175621002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73867676	chr4:175621078-175621079	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs556711062	chr4:175621080-175621081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576745341	chr4:175621087-175621088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539384979	chr4:175621095-175621096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373379713	chr4:175621105-175621106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536861950	chr4:175621201-175621202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556775578	chr4:175621203-175621204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs114861042	chr4:175621223-175621224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572396921	chr4:175621270-175621271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540120126	chr4:175621271-175621272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77116112	chr4:175621317-175621318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538651463	chr4:175621382-175621383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570400002	chr4:175621386-175621387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs28538678	chr4:175621437-175621438	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs4695952	chr4:175621502-175621503	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs568012600	chr4:175621511-175621512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544493763	chr4:175621531-175621532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544044416	chr4:175621556-175621557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144988347	chr4:175621639-175621640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10014459	chr4:175621665-175621666	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs376493909	chr4:175621679-175621680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552948582	chr4:175621680-175621681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183900433	chr4:175621683-175621684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34976724	chr4:175621728-175621729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528083026	chr4:175621733-175621734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540982362	chr4:175621752-175621753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574668504	chr4:175621753-175621754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188266844	chr4:175621761-175621762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115665985	chr4:175621771-175621772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530596475	chr4:175621827-175621828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550247991	chr4:175621839-175621840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570341719	chr4:175621876-175621877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs35706713	chr4:175621878-175621879	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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	chr4:175619400-175622800	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr4:175619600-175624000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr4:175622800-175623600	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr4:175624000-175624600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr4:175624600-175628400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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