Variant report

Variant	esv3511869
Chromosome Location	chr4:175626560-175627937
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: 63 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534772725	chr4:175626632-175626633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs554567867	chr4:175626637-175626638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539285371	chr4:175626671-175626672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73867682	chr4:175626733-175626734	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs553816149	chr4:175626755-175626756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149239365	chr4:175626818-175626819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs13118343	chr4:175626866-175626867	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs185487160	chr4:175626880-175626881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs75188175	chr4:175626935-175626936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545220860	chr4:175626952-175626953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565370985	chr4:175626991-175626992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531257409	chr4:175626993-175626994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs147178082	chr4:175626997-175626998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190001528	chr4:175627017-175627018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547923433	chr4:175627090-175627091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575678854	chr4:175627173-175627174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561448031	chr4:175627183-175627184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140179969	chr4:175627196-175627197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547824648	chr4:175627198-175627199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373767095	chr4:175627207-175627208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550482302	chr4:175627223-175627224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376725255	chr4:175627237-175627238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149255509	chr4:175627238-175627239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551993370	chr4:175627241-175627242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565719884	chr4:175627242-175627243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534536929	chr4:175627243-175627244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554714201	chr4:175627244-175627245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567898608	chr4:175627247-175627248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547759815	chr4:175627249-175627250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574895900	chr4:175627250-175627251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372286444	chr4:175627254-175627255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375282755	chr4:175627275-175627276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576069401	chr4:175627279-175627280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572391524	chr4:175627285-175627286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182260264	chr4:175627297-175627298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144433009	chr4:175627305-175627306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370045679	chr4:175627313-175627314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576619711	chr4:175627333-175627334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535943171	chr4:175627336-175627337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530296891	chr4:175627344-175627345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544166111	chr4:175627362-175627363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563929330	chr4:175627365-175627366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7665466	chr4:175627393-175627394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11350156	chr4:175627394-175627395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532145329	chr4:175627403-175627404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185898811	chr4:175627449-175627450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565653898	chr4:175627453-175627454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192425079	chr4:175627485-175627486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148436254	chr4:175627500-175627501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370415436	chr4:175627647-175627648	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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175624600-175628400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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