Variant report

Variant	esv12796
Chromosome Location	chr4:175625198-175626963
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: 57 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191430783	chr4:175625218-175625219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576348526	chr4:175625225-175625226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184195626	chr4:175625236-175625237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs141457844	chr4:175625263-175625264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527563729	chr4:175625309-175625310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs6839997	chr4:175625324-175625325	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs116045108	chr4:175625337-175625338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138384743	chr4:175625343-175625344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529285382	chr4:175625360-175625361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549105796	chr4:175625361-175625362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143068225	chr4:175625418-175625419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190697606	chr4:175625419-175625420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182031714	chr4:175625420-175625421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs114909081	chr4:175625496-175625497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568544998	chr4:175625593-175625594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537462457	chr4:175625596-175625597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554425931	chr4:175625597-175625598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1485944	chr4:175625688-175625689	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs377570309	chr4:175625689-175625690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs115618464	chr4:175625711-175625712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556306164	chr4:175625723-175625724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576160434	chr4:175625796-175625797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs71646871	chr4:175625797-175625798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6845911	chr4:175625798-175625799	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs72706182	chr4:175625809-175625810	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs187079793	chr4:175625822-175625823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539973300	chr4:175625825-175625826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs80090584	chr4:175625842-175625843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573960142	chr4:175625854-175625855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs386682270	chr4:175625872-175625873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs6553809	chr4:175625898-175625899	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs547822434	chr4:175626053-175626054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113322994	chr4:175626099-175626100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs202052113	chr4:175626103-175626104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7658261	chr4:175626104-175626105	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs78290680	chr4:175626197-175626198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181397244	chr4:175626202-175626203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146138111	chr4:175626225-175626226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35754169	chr4:175626243-175626244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115300172	chr4:175626301-175626302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549775630	chr4:175626421-175626422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7689256	chr4:175626441-175626442	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs538775631	chr4:175626442-175626443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78700918	chr4:175626454-175626455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7684257	chr4:175626456-175626457	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs572185197	chr4:175626464-175626465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375822902	chr4:175626530-175626531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534772725	chr4:175626632-175626633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554567867	chr4:175626637-175626638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539285371	chr4:175626671-175626672	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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