Variant report

Variant	esv3465438
Chromosome Location	chr4:69959771-69960238
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573570038	chr4:69959782-69959783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs180682704	chr4:69959789-69959790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562245782	chr4:69959803-69959804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs150317160	chr4:69959814-69959815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs368101127	chr4:69959815-69959816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs369707355	chr4:69959837-69959838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531281810	chr4:69959844-69959845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs138316705	chr4:69959847-69959848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs200141882	chr4:69959849-69959850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200908563	chr4:69959850-69959851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs201723882	chr4:69959851-69959852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs199990438	chr4:69959852-69959853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs201120598	chr4:69959853-69959854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs202158877	chr4:69959854-69959855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs71204074	chr4:69959875-69959876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs371486938	chr4:69959889-69959890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544388801	chr4:69959958-69959959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564372300	chr4:69960162-69960163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs533228798	chr4:69960163-69960164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs200486722	chr4:69960164-69960165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs201342087	chr4:69960165-69960166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs529282699	chr4:69960199-69960200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs116604766	chr4:69960206-69960207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs62296944	chr4:69960210-69960211	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Multiple myeloma	16616336	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
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Graft versus host disease	20877625	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Osteoporosis	20877625	CNVD
Osteoporosis	19737800	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Glioblastoma multiforme	21138945	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69957400-69960000	Enhancers	NHEK	skin
2	chr4:69957600-69959800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr4:69958000-69960800	Weak transcription	HUVEC	blood vessel
4	chr4:69958200-69961000	Weak transcription	HMEC	breast
5	chr4:69958400-69961800	Weak transcription	Osteobl	bone
6	chr4:69959200-69961000	Enhancers	A549	lung
7	chr4:69959400-69960400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:69959400-69960800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:69959600-69960000	Weak transcription	HepG2	liver
10	chr4:69959600-69960400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr4:69959600-69960800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:69959600-69960800	Weak transcription	Fetal Intestine Small	intestine
13	chr4:69959600-69960800	Weak transcription	NH-A	brain
14	chr4:69959600-69980000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr4:69959800-69960200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr4:69960000-69960400	Weak transcription	NHEK	skin
17	chr4:69960000-69962000	Enhancers	HepG2	liver
18	chr4:69960200-69962600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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