Variant report

Variant	esv3370533
Chromosome Location	chr4:74407613-74410861
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	FOXA1	chr4:74410254-74410694	HepG2	liver:	n/a	n/a
2	FOXA1	chr4:74410238-74410697	HepG2	liver:	n/a	n/a
3	FOXA1	chr4:74410334-74410741	HepG2	liver:	n/a	n/a
4	FOXA1	chr4:74410270-74410694	HepG2	liver:	n/a	n/a
5	FOXA2	chr4:74410378-74410648	HepG2	liver:	n/a	n/a
6	FOXA2	chr4:74410230-74410664	A549	lung:	n/a	n/a
7	JUND	chr4:74410343-74410620	HepG2	liver:	n/a	n/a
8	MAFF	chr4:74410441-74410567	HepG2	liver:	n/a	n/a
9	MAFK	chr4:74410406-74410572	HepG2	liver:	n/a	n/a
10	MYC	chr4:74409711-74409795	GM12878	blood:	n/a	n/a
11	YY1	chr4:74410357-74410600	HepG2	liver:	n/a	n/a
12	YY1	chr4:74410282-74410695	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:74405776..74408189-chr4:74414210..74416205,2	K562	blood:

Variant related genes	Relation type
ENSG00000249970	TF binding region

Extended variants
information (count: 69 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578150465	chr4:74407666-74407667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs140967886	chr4:74407671-74407672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11943798	chr4:74407716-74407717	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs144889121	chr4:74407723-74407724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187714350	chr4:74407769-74407770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560595607	chr4:74407773-74407774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559480558	chr4:74407782-74407783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528062981	chr4:74407812-74407813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377506959	chr4:74407868-74407869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540355053	chr4:74407875-74407876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144474886	chr4:74407892-74407893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564805092	chr4:74407914-74407915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs74918155	chr4:74407932-74407933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550807441	chr4:74407933-74407934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372257624	chr4:74407934-74407935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138784173	chr4:74407974-74407975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576494695	chr4:74408002-74408003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs191184748	chr4:74408026-74408027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548502229	chr4:74408033-74408034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567694342	chr4:74408034-74408035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs565495859	chr4:74408056-74408057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534694578	chr4:74408076-74408077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs115717982	chr4:74408181-74408182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs373214215	chr4:74409800-74409801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs529913966	chr4:74409813-74409814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs77397688	chr4:74409823-74409824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs559196975	chr4:74409861-74409862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs150525278	chr4:74409916-74409917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533307039	chr4:74409926-74409927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs537821749	chr4:74409927-74409928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556167950	chr4:74409971-74409972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574602127	chr4:74410013-74410014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs565366887	chr4:74410020-74410021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560092471	chr4:74410021-74410022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs66501353	chr4:74410033-74410034	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs545812866	chr4:74410043-74410044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs564383530	chr4:74410051-74410052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs6854666	chr4:74410070-74410071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs551073176	chr4:74410093-74410094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs374320522	chr4:74410134-74410135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs548462685	chr4:74410135-74410136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs562499143	chr4:74410163-74410164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530135245	chr4:74410214-74410215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs143257713	chr4:74410219-74410220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs566998172	chr4:74410226-74410227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs11728915	chr4:74410237-74410238	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs552625047	chr4:74410290-74410291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571184458	chr4:74410291-74410292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs372852632	chr4:74410293-74410294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs114147926	chr4:74410304-74410305	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	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
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Abnormal phenotypes	18644119	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74405400-74408000	Weak transcription	Liver	Liver
2	chr4:74407600-74408200	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr4:74409800-74410400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr4:74409800-74410800	Enhancers	HepG2	liver
5	chr4:74410800-74415600	Weak transcription	HepG2	liver

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