Variant report

Variant	nsv967300
Chromosome Location	chr4:85958253-85964140
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 104 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527765028	chr4:85958839-85958840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs549032286	chr4:85958869-85958870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs76500019	chr4:85958872-85958873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184226811	chr4:85958890-85958891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557131571	chr4:85958892-85958893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569050479	chr4:85958900-85958901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564693760	chr4:85958907-85958908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs140934533	chr4:85958930-85958931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557767049	chr4:85958947-85958948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572907844	chr4:85958956-85958957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540247917	chr4:85958985-85958986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563138604	chr4:85959252-85959253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533452922	chr4:85959276-85959277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369323012	chr4:85959287-85959288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs17369581	chr4:85959311-85959312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187292210	chr4:85959339-85959340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs578048335	chr4:85959340-85959341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs13141072	chr4:85959352-85959353	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs548968795	chr4:85959368-85959369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537460809	chr4:85959407-85959408	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs199987962	chr4:85959435-85959436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375000163	chr4:85959448-85959449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192910827	chr4:85959466-85959467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148985631	chr4:85959488-85959489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550502181	chr4:85959508-85959509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs75259242	chr4:85959537-85959538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377072649	chr4:85959549-85959550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569064156	chr4:85959560-85959561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539339405	chr4:85959589-85959590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184519634	chr4:85959590-85959591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566791542	chr4:85959626-85959627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533720140	chr4:85959710-85959711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145770320	chr4:85959719-85959720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573644628	chr4:85959744-85959745	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12511782	chr4:85959826-85959827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189306261	chr4:85959837-85959838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs578098325	chr4:85959868-85959869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545220166	chr4:85959904-85959905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533646966	chr4:85959933-85959934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372853175	chr4:85960018-85960019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375807501	chr4:85960019-85960020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553570447	chr4:85960091-85960092	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573365367	chr4:85960163-85960164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542604979	chr4:85960169-85960170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539177891	chr4:85960175-85960176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369881360	chr4:85960181-85960182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559314727	chr4:85960183-85960184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs193102944	chr4:85960203-85960204	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs532096674	chr4:85960209-85960210	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs114255152	chr4:85960289-85960290	Enhancers Flanking Active TSS	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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:85958800-85959000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr4:85959200-85960200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:85959200-85962000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:85959400-85961200	Enhancers	A549	lung
5	chr4:85960000-85960200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr4:85960200-85960400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr4:85960200-85960800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr4:85960200-85961200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr4:85960200-85961400	Enhancers	Osteobl	bone
10	chr4:85960200-85961600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr4:85960200-85961800	Enhancers	NHDF-Ad	bronchial
12	chr4:85960400-85961400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr4:85960400-85961400	Enhancers	HSMM	muscle
14	chr4:85960600-85961200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr4:85960800-85961000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:85961000-85961200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr4:85961000-85961400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:85961000-85961400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr4:85961400-85961800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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