Variant report

Variant	esv2425088
Chromosome Location	chr4:86461907-86463490
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192298383	chr4:86461946-86461947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs151288458	chr4:86461958-86461959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11937495	chr4:86461981-86461982	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs11942163	chr4:86461983-86461984	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs80142941	chr4:86461991-86461992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113600725	chr4:86461995-86461996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78368733	chr4:86462012-86462013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78006572	chr4:86462013-86462014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs151272824	chr4:86462080-86462081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140667284	chr4:86462089-86462090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573524958	chr4:86462113-86462114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543983021	chr4:86462119-86462120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369668107	chr4:86462126-86462127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73832796	chr4:86462147-86462148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs116322934	chr4:86462151-86462152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577851973	chr4:86462159-86462160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545036308	chr4:86462193-86462194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs72967867	chr4:86462219-86462220	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs183666710	chr4:86462233-86462234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs72967869	chr4:86462242-86462243	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs549694639	chr4:86462295-86462296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs70948733	chr4:86462296-86462297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560936561	chr4:86462369-86462370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531968892	chr4:86462370-86462371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550381123	chr4:86462427-86462428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571946049	chr4:86462429-86462430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538959224	chr4:86462496-86462497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs13127247	chr4:86462527-86462528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373396192	chr4:86462557-86462558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570864877	chr4:86462679-86462680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs28493605	chr4:86462683-86462684	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs72967871	chr4:86462695-86462696	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs58330660	chr4:86462792-86462793	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs73832798	chr4:86462801-86462802	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs537692340	chr4:86462817-86462818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35535958	chr4:86462907-86462908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs60601431	chr4:86462910-86462911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs4450923	chr4:86462929-86462930	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs572054993	chr4:86462940-86462941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs4348085	chr4:86462987-86462988	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs4450924	chr4:86463046-86463047	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs4450925	chr4:86463100-86463101	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs145756423	chr4:86463118-86463119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560999554	chr4:86463128-86463129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546071714	chr4:86463132-86463133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138488449	chr4:86463138-86463139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562860340	chr4:86463213-86463214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141400493	chr4:86463218-86463219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531762637	chr4:86463230-86463231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565337347	chr4:86463268-86463269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86430200-86468600	Weak transcription	Pancreas	Pancrea
2	chr4:86445400-86464600	Weak transcription	HSMM	muscle
3	chr4:86452200-86465000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:86454000-86476600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr4:86454600-86471800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:86454800-86471800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:86456000-86464200	Weak transcription	Primary B cells from peripheral blood	blood
8	chr4:86457800-86470400	Weak transcription	Primary B cells from cord blood	blood
9	chr4:86458200-86466600	Weak transcription	Right Atrium	heart
10	chr4:86458800-86463800	Weak transcription	Fetal Heart	heart
11	chr4:86461000-86476600	Weak transcription	Left Ventricle	heart
12	chr4:86462400-86464400	Weak transcription	Gastric	stomach

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