Variant report

Variant	esv1816849
Chromosome Location	chr4:54474714-54480147
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	chr4:54469447..54472212-chr4:54474648..54477613,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550082745	chr4:54474809-54474810	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs182152992	chr4:54474810-54474811	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs111714552	chr4:54474826-54474827	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs555031943	chr4:54474876-54474877	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs571765844	chr4:54474891-54474892	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs185787850	chr4:54474892-54474893	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs60680696	chr4:54474918-54474919	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs578137699	chr4:54474941-54474942	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs370623972	chr4:54474949-54474950	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs2590798	chr4:54474955-54474956	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs139929888	chr4:54475045-54475046	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs191299131	chr4:54475046-54475047	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs541940877	chr4:54475062-54475063	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs2668515	chr4:54475081-54475082	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs149709751	chr4:54475162-54475163	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs528549583	chr4:54475168-54475169	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs183216021	chr4:54475205-54475206	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs530821055	chr4:54475206-54475207	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs544130100	chr4:54475212-54475213	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs2668516	chr4:54475256-54475257	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs532970919	chr4:54475282-54475283	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs545871093	chr4:54475316-54475317	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs188544110	chr4:54475319-54475320	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs145636095	chr4:54475335-54475336	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs2668517	chr4:54475336-54475337	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs527813968	chr4:54475344-54475345	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs193132847	chr4:54475354-54475355	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs183887798	chr4:54475368-54475369	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs60255253	chr4:54475377-54475378	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs571728459	chr4:54475400-54475401	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Hodgkin''s lymphoma	17606441	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	22183965	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	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
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	19435819	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
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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian neoplasms	16753589	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21569311	CNVD
Glioblastoma	17504929	CNVD
Glioblastoma	16823502	CNVD
Melanoma	16908931	CNVD
Glioblastoma	20031968	CNVD
Medulloblastoma	19270706	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Olfactory neuroblastoma	18408657	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Rhabdomyosarcoma	16790082	CNVD
Gastrointestinal stromal cancer	17438095	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21525872	CNVD
Glioblastoma multiforme	19115005	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164919	CNVD
Gastrointestinal stromal cancer	17527083	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17209131	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164920	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54474800-54475400	ZNF genes & repeats	GM12878-XiMat	blood

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