Variant report

Variant	esv3368032
Chromosome Location	chr4:76825803-76826299
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35388289	chr4:76825819-76825820	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs34497607	chr4:76825822-76825823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs34903442	chr4:76825825-76825826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs113791909	chr4:76825830-76825831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs13115160	chr4:76825831-76825832	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs59462849	chr4:76825834-76825835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs534569960	chr4:76825837-76825838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554191498	chr4:76825846-76825847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139703248	chr4:76825858-76825859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs113958826	chr4:76825859-76825860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575484120	chr4:76825927-76825928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113259785	chr4:76825950-76825951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146826626	chr4:76826022-76826023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563228071	chr4:76826066-76826067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148852355	chr4:76826121-76826122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542809488	chr4:76826204-76826205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562174106	chr4:76826217-76826218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573727075	chr4:76826219-76826220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs74511942	chr4:76826228-76826229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541386332	chr4:76826230-76826231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542435512	chr4:76826240-76826241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
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
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
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Autism	18414403	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76821600-76831000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr4:76823000-76836600	Weak transcription	Spleen	Spleen
3	chr4:76823600-76835000	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr4:76823800-76826200	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr4:76823800-76835000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr4:76824000-76835200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr4:76824800-76841000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr4:76825600-76827200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:76826200-76827200	Weak transcription	Monocytes-CD14+_RO01746	blood

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