Variant report

Variant	esv3405259
Chromosome Location	chr4:121072154-121074552
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs137996598	chr4:121072177-121072178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs7673609	chr4:121072232-121072233	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs184979281	chr4:121072269-121072270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149479379	chr4:121072316-121072317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531898577	chr4:121072336-121072337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144357990	chr4:121072367-121072368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552005208	chr4:121072409-121072410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571739171	chr4:121072469-121072470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527795979	chr4:121072484-121072485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189500216	chr4:121072553-121072554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574175645	chr4:121072606-121072607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181834078	chr4:121072634-121072635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535739591	chr4:121072651-121072652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555284368	chr4:121072674-121072675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568823063	chr4:121072707-121072708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537604508	chr4:121072719-121072720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557553241	chr4:121072741-121072742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375976204	chr4:121072767-121072768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35230489	chr4:121072835-121072836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375126876	chr4:121072949-121072950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577633241	chr4:121072964-121072965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533677822	chr4:121073003-121073004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547022128	chr4:121073032-121073033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553725218	chr4:121073060-121073061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148769533	chr4:121073168-121073169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375194758	chr4:121073194-121073195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144927145	chr4:121073195-121073196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7655706	chr4:121073220-121073221	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs576828483	chr4:121073281-121073282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545581033	chr4:121073300-121073301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565509963	chr4:121073338-121073339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527767264	chr4:121073356-121073357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147525515	chr4:121073381-121073382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561328631	chr4:121073393-121073394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546370794	chr4:121073439-121073440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530003694	chr4:121073478-121073479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549767930	chr4:121073523-121073524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139887465	chr4:121073539-121073540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568784359	chr4:121073545-121073546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537765501	chr4:121073546-121073547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200485583	chr4:121073583-121073584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545414869	chr4:121073598-121073599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551145727	chr4:121073605-121073606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571399488	chr4:121073628-121073629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533877231	chr4:121073633-121073634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553545408	chr4:121073646-121073647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201641960	chr4:121073657-121073658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs13435910	chr4:121073679-121073680	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs536224109	chr4:121073728-121073729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145335686	chr4:121073759-121073760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Clear cell renal cell carcinoma	18791270	CNVD
Acute myeloid leukemia	19651601	CNVD
Gastric cancer	16891809	CNVD
Olfactory neuroblastoma	18408657	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121068800-121084000	Weak transcription	Psoas Muscle	Psoas

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