Variant report

Variant	esv3516393
Chromosome Location	chr4:85960002-85964029
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372853175	chr4:85960018-85960019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs375807501	chr4:85960019-85960020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553570447	chr4:85960091-85960092	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573365367	chr4:85960163-85960164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542604979	chr4:85960169-85960170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539177891	chr4:85960175-85960176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369881360	chr4:85960181-85960182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559314727	chr4:85960183-85960184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs193102944	chr4:85960203-85960204	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs532096674	chr4:85960209-85960210	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs114255152	chr4:85960289-85960290	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs565249121	chr4:85960310-85960311	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs79730801	chr4:85960318-85960319	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs184599727	chr4:85960368-85960369	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs566729987	chr4:85960374-85960375	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs28403130	chr4:85960397-85960398	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs534122014	chr4:85960470-85960471	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548996713	chr4:85960493-85960494	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs542992611	chr4:85960497-85960498	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567280487	chr4:85960514-85960515	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs537526696	chr4:85960547-85960548	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs143099995	chr4:85960596-85960597	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577669064	chr4:85960612-85960613	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs538807969	chr4:85960640-85960641	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs369984272	chr4:85960671-85960672	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs553986321	chr4:85960745-85960746	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs572406067	chr4:85960779-85960780	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs146151545	chr4:85960815-85960816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189003886	chr4:85960834-85960835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576353280	chr4:85960840-85960841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs543472456	chr4:85960845-85960846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs141141359	chr4:85960908-85960909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs114796681	chr4:85960997-85960998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs372060975	chr4:85961081-85961082	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs551591425	chr4:85961152-85961153	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs150748963	chr4:85961153-85961154	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs560435540	chr4:85961260-85961261	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs527560436	chr4:85961273-85961274	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs549331904	chr4:85961281-85961282	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs544652649	chr4:85961294-85961295	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs139068362	chr4:85961395-85961396	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181654506	chr4:85961413-85961414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs145257111	chr4:85961423-85961424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528324790	chr4:85961448-85961449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs571310776	chr4:85961453-85961454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs185778235	chr4:85961468-85961469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs72950413	chr4:85961508-85961509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs147183788	chr4:85961509-85961510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs540364393	chr4:85961544-85961545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs140489480	chr4:85961629-85961630	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
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
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
primary effusion lymphomas	17116491	CNVD
Prostate cancer	16573809	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:85959200-85960200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr4:85959200-85962000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:85959400-85961200	Enhancers	A549	lung
4	chr4:85960000-85960200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr4:85960200-85960400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:85960200-85960800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:85960200-85961200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:85960200-85961400	Enhancers	Osteobl	bone
9	chr4:85960200-85961600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr4:85960200-85961800	Enhancers	NHDF-Ad	bronchial
11	chr4:85960400-85961400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr4:85960400-85961400	Enhancers	HSMM	muscle
13	chr4:85960600-85961200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr4:85960800-85961000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr4:85961000-85961200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr4:85961000-85961400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:85961000-85961400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr4:85961400-85961800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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