Variant report

Variant	esv3344126
Chromosome Location	chr4:120674104-120678402
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 128 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:128 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28587671	chr4:120674122-120674123	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs17005667	chr4:120674147-120674148	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs372483975	chr4:120674152-120674153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs72680989	chr4:120674169-120674170	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs114673443	chr4:120674171-120674172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140685215	chr4:120674184-120674185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112184227	chr4:120674188-120674189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531785883	chr4:120674223-120674224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550510394	chr4:120674239-120674240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs4834807	chr4:120674262-120674263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141642083	chr4:120674274-120674275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116808177	chr4:120674314-120674315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538252863	chr4:120674320-120674321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546895081	chr4:120674356-120674357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs4834808	chr4:120674512-120674513	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs535431317	chr4:120674558-120674559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555483216	chr4:120674578-120674579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs35663795	chr4:120674672-120674673	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs576994436	chr4:120674755-120674756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs17005677	chr4:120674786-120674787	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs558093544	chr4:120674795-120674796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142187734	chr4:120674809-120674810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs2714963	chr4:120674829-120674830	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs2252625	chr4:120674899-120674900	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs573745199	chr4:120674929-120674930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542660761	chr4:120674935-120674936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562858874	chr4:120674969-120674970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs115717214	chr4:120674999-120675000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2252621	chr4:120675026-120675027	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs151184793	chr4:120675038-120675039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs202204203	chr4:120675128-120675129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181553748	chr4:120675134-120675135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2389960	chr4:120675159-120675160	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs575134495	chr4:120675210-120675211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560464295	chr4:120675242-120675243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529152822	chr4:120675278-120675279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548720003	chr4:120675282-120675283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568809742	chr4:120675289-120675290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2583599	chr4:120675323-120675324	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs72680990	chr4:120675349-120675350	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs35811387	chr4:120675397-120675398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571549703	chr4:120675424-120675425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577297379	chr4:120675426-120675427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140394554	chr4:120675428-120675429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150368057	chr4:120675465-120675466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186458581	chr4:120675466-120675467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189278562	chr4:120675470-120675471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549912397	chr4:120675526-120675527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576363358	chr4:120675556-120675557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569813242	chr4:120675581-120675582	Weak transcription	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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	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
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Myelofibrosis	22110671	CNVD
Myelodysplastic syndrome	18508791	CNVD
small cell lung cancer	20016488	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120672200-120676800	Weak transcription	Fetal Heart	heart
2	chr4:120672400-120677400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr4:120672800-120676800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr4:120676800-120677200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr4:120676800-120677200	Enhancers	Fetal Heart	heart
6	chr4:120677400-120677600	Bivalent Enhancer	HSMMtube	muscle
7	chr4:120677400-120677800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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