Variant report

Variant	esv3525282
Chromosome Location	chr4:94559124-94565911
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546662025	chr4:94565401-94565402	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs560330409	chr4:94565426-94565427	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529408488	chr4:94565452-94565453	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549161015	chr4:94565453-94565454	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569490332	chr4:94565468-94565469	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538514735	chr4:94565469-94565470	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551118446	chr4:94565511-94565512	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs150615035	chr4:94565512-94565513	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs11387483	chr4:94565517-94565518	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs113664740	chr4:94565542-94565543	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533663519	chr4:94565543-94565544	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs150337205	chr4:94565564-94565565	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs13136588	chr4:94565580-94565581	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs547466547	chr4:94565581-94565582	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs77012383	chr4:94565584-94565585	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192645764	chr4:94565604-94565605	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs375076569	chr4:94565617-94565618	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545266575	chr4:94565683-94565684	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569712047	chr4:94565701-94565702	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs564345467	chr4:94565702-94565703	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182813338	chr4:94565746-94565747	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577936287	chr4:94565760-94565761	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs17020910	chr4:94565766-94565767	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560258545	chr4:94565776-94565777	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs367893557	chr4:94565792-94565793	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529337017	chr4:94565799-94565800	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs187530727	chr4:94565811-94565812	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563075934	chr4:94565824-94565825	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113217373	chr4:94565834-94565835	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552014348	chr4:94565846-94565847	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs13112912	chr4:94565878-94565879	Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs571055437	chr4:94565898-94565899	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527237100	chr4:94565899-94565900	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
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
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	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
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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Cancer	19907438	CNVD
Breast cancer	22522925	CNVD
Autism	20841430	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Epilepsy	20502679	CNVD
early-passage human iPS cells	21368824	CNVD
Glioma	20126413	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:94565400-94565800	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr4:94565400-94566000	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr4:94565400-94567000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr4:94565800-94566200	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr4:94565800-94566600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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