Variant report

Variant	esv1812052
Chromosome Location	chr4:172988860-172991274
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	chr4:172988137..172989930-chr4:172993221..172995055,2	K562	blood:

Extended variants
information (count: 95 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7655005	chr4:172988860-172988861	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550102961	chr4:172988874-172988875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563531092	chr4:172988879-172988880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185774758	chr4:172988889-172988890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552582539	chr4:172988973-172988974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113613821	chr4:172988990-172988991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141262887	chr4:172989152-172989153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535193137	chr4:172989171-172989172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142765383	chr4:172989191-172989192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145356503	chr4:172989192-172989193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113003786	chr4:172989194-172989195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145761017	chr4:172989206-172989207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547522206	chr4:172989294-172989295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567320784	chr4:172989307-172989308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs113833764	chr4:172989375-172989376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs536347912	chr4:172989389-172989390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs150988848	chr4:172989515-172989516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs575931861	chr4:172989533-172989534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538950698	chr4:172989545-172989546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs1394858	chr4:172989546-172989547	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs571926883	chr4:172989569-172989570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs1394857	chr4:172989620-172989621	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs74421380	chr4:172989696-172989697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7661357	chr4:172989728-172989729	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs541581737	chr4:172989800-172989801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574639939	chr4:172989804-172989805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140863776	chr4:172989819-172989820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs13133832	chr4:172989984-172989985	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs111457328	chr4:172990055-172990056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373530113	chr4:172990196-172990197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546500136	chr4:172990250-172990251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539995687	chr4:172990275-172990276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150170150	chr4:172990328-172990329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560044897	chr4:172990517-172990518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528372225	chr4:172990520-172990521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138175318	chr4:172990528-172990529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533394219	chr4:172990542-172990543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376064645	chr4:172990547-172990548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568658630	chr4:172990555-172990556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529831215	chr4:172990559-172990560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113101762	chr4:172990561-172990562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs56179190	chr4:172990568-172990569	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs145024053	chr4:172990583-172990584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs57265179	chr4:172990589-172990590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138858845	chr4:172990590-172990591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569073232	chr4:172990598-172990599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs149385055	chr4:172990599-172990600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565592749	chr4:172990605-172990606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs13113560	chr4:172990610-172990611	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs567960192	chr4:172990613-172990614	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
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
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	CNVD
Schizophrenia	23813976	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
Urothelial carcinoma	21177765	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:172985400-172989200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr4:172985800-172989000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr4:172989000-172990400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr4:172989200-172989600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr4:172989400-172990400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:172989600-172992600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr4:172990400-172992400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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