Variant report

Variant	esv3466116
Chromosome Location	chr4:120963550-120965124
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:120964875-120964999	HepG2	liver:	n/a	n/a
2	CTCF	chr4:120964100-120964250	NHEK	skin:	n/a	n/a
3	IRF1	chr4:120965013-120965331	K562	blood:	n/a	chr4:120965180-120965201
4	IRF1	chr4:120965027-120965354	K562	blood:	n/a	chr4:120965180-120965201
5	IRF1	chr4:120964821-120965410	K562	blood:	n/a	chr4:120965180-120965201
6	SETDB1	chr4:120964713-120965317	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:120965102..120968292-chr4:120969292..120973289,4	K562	blood:
2	chr4:120964367..120966016-chr4:120972622..120975603,2	K562	blood:
3	chr4:120958158..120959809-chr4:120965003..120967800,2	K562	blood:
4	chr4:120956553..120960562-chr4:120961898..120965735,4	K562	blood:

Variant related genes	Relation type
ENSG00000253825	TF binding region

Extended variants
information (count: 48 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556099454	chr4:120963587-120963588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs78565885	chr4:120963609-120963610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs193180751	chr4:120963624-120963625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557671511	chr4:120963630-120963631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537189526	chr4:120963647-120963648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138577157	chr4:120963721-120963722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138875839	chr4:120963779-120963780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113241994	chr4:120963780-120963781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557579253	chr4:120963802-120963803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185097466	chr4:120963826-120963827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546145050	chr4:120963828-120963829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149333184	chr4:120963839-120963840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542709626	chr4:120963860-120963861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562461937	chr4:120963872-120963873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113934206	chr4:120963896-120963897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545699264	chr4:120963921-120963922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565603838	chr4:120963963-120963964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528012575	chr4:120964005-120964006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546474354	chr4:120964117-120964118	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs144606351	chr4:120964183-120964184	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs11729305	chr4:120964187-120964188	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs75969171	chr4:120964192-120964193	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs111883381	chr4:120964260-120964261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569705699	chr4:120964445-120964446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189208377	chr4:120964459-120964460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557610210	chr4:120964511-120964512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115260833	chr4:120964529-120964530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530911369	chr4:120964531-120964532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561725025	chr4:120964532-120964533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7680584	chr4:120964536-120964537	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs76305445	chr4:120964550-120964551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs76047677	chr4:120964567-120964568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs75727920	chr4:120964570-120964571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529983725	chr4:120964629-120964630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544994782	chr4:120964651-120964652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532195104	chr4:120964691-120964692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs77707449	chr4:120964744-120964745	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs111532758	chr4:120964745-120964746	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs115275412	chr4:120964767-120964768	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs375785894	chr4:120964805-120964806	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs193092701	chr4:120964839-120964840	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs561322056	chr4:120964933-120964934	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs530359552	chr4:120964956-120964957	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs549849547	chr4:120964966-120964967	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs80285659	chr4:120964987-120964988	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs532484154	chr4:120965065-120965066	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs367821004	chr4:120965119-120965120	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs142307708	chr4:120965122-120965123	Weak transcription	TF binding region	1 gene(s)	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	chr4:120962200-120987200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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