Variant report

Variant	esv2429132
Chromosome Location	chr4:167403179-167404676
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534663057	chr4:167403298-167403299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs11737269	chr4:167403307-167403308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553059627	chr4:167403396-167403397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs375862432	chr4:167403521-167403522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574545667	chr4:167403523-167403524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191537941	chr4:167403539-167403540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs3920008	chr4:167403606-167403607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184110285	chr4:167403607-167403608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553680941	chr4:167403700-167403701	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10612714	chr4:167403714-167403715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs398108277	chr4:167403715-167403716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35656991	chr4:167403717-167403718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542601005	chr4:167403718-167403719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs6823188	chr4:167403732-167403733	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs76622634	chr4:167403740-167403741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539435967	chr4:167403751-167403752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150275208	chr4:167403771-167403772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532161708	chr4:167403773-167403774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540989798	chr4:167403777-167403778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138870172	chr4:167403842-167403843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188840737	chr4:167403894-167403895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548539764	chr4:167403930-167403931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368729273	chr4:167403962-167403963	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371693010	chr4:167404012-167404013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs569990354	chr4:167404193-167404194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs191964240	chr4:167404371-167404372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs548484490	chr4:167404379-167404380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552474812	chr4:167404380-167404381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs112179170	chr4:167404383-167404384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs534697313	chr4:167404407-167404408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552943421	chr4:167404445-167404446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536179493	chr4:167404457-167404458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs13105316	chr4:167404477-167404478	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs535927685	chr4:167404480-167404481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs554494438	chr4:167404484-167404485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576206616	chr4:167404567-167404568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs543216909	chr4:167404632-167404633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs61629664	chr4:167404658-167404659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs398083726	chr4:167404666-167404667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs397791534	chr4:167404667-167404668	Enhancers	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
Breast cancer	17603634	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
primary effusion lymphomas	17116491	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
Breast cancer	17393978	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
Congenital diaphragmatic hernia	21085971	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
Glioblastoma multiforme	22286061	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	16774939	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
intellectual deficit	22127048	CNVD
abnormal development	18461090	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Schizophrenia	20967226	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:167402400-167403400	Enhancers	Muscle Satellite Cultured Cells	--
2	chr4:167403000-167404000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr4:167403400-167404600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr4:167404000-167404400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr4:167404000-167404800	Enhancers	Primary hematopoietic stem cells	blood

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