Variant report

Variant	esv3385865
Chromosome Location	chr4:106448253-106450351
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	CTCF	chr4:106448360-106448510	HepG2	liver:	n/a	n/a
2	CTCF	chr4:106448425-106448501	K562	blood:	n/a	n/a
3	RAD21	chr4:106448433-106448501	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ATP5EP1	TF binding region
ENSG00000216425	TF binding region

Extended variants
information (count: 77 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555624644	chr4:106448275-106448276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565961862	chr4:106448283-106448284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534646216	chr4:106448321-106448322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369533	chr4:106448322-106448323	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs373235917	chr4:106448354-106448355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368524625	chr4:106448376-106448377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577614254	chr4:106448381-106448382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182079341	chr4:106448396-106448397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546849943	chr4:106448433-106448434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556597740	chr4:106448463-106448464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573417302	chr4:106448515-106448516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542790675	chr4:106448609-106448610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189222900	chr4:106448626-106448627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs71599058	chr4:106448691-106448692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530180454	chr4:106448693-106448694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528749952	chr4:106448700-106448701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545422476	chr4:106448793-106448794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548652180	chr4:106448854-106448855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191955970	chr4:106448873-106448874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537438475	chr4:106448879-106448880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11728023	chr4:106448896-106448897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4082504	chr4:106448900-106448901	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs549185087	chr4:106449015-106449016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565924901	chr4:106449054-106449055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201845726	chr4:106449138-106449139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6830281	chr4:106449182-106449183	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs140003647	chr4:106449186-106449187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183783841	chr4:106449189-106449190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556566782	chr4:106449206-106449207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77040865	chr4:106449292-106449293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149639443	chr4:106449364-106449365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534971977	chr4:106449377-106449378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144997034	chr4:106449406-106449407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs61201889	chr4:106449434-106449435	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs573306854	chr4:106449441-106449442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6856477	chr4:106449452-106449453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs6831259	chr4:106449483-106449484	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs568314316	chr4:106449528-106449529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111667113	chr4:106449579-106449580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35976224	chr4:106449580-106449581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201784657	chr4:106449598-106449599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544597788	chr4:106449633-106449634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145861951	chr4:106449638-106449639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530210515	chr4:106449650-106449651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188318140	chr4:106449659-106449660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560571757	chr4:106449663-106449664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528233982	chr4:106449739-106449740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535240271	chr4:106449743-106449744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373699761	chr4:106449748-106449749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11946577	chr4:106449759-106449760	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:77)

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
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	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
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	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
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
myeloid cancer	21057493	CNVD
Cognitive impairment	21505072	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106448000-106448400	Weak transcription	Pancreas	Pancrea
2	chr4:106448400-106448600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:106448400-106448600	Enhancers	Pancreas	Pancrea
4	chr4:106448600-106466200	Weak transcription	Pancreas	Pancrea
5	chr4:106448800-106458000	Weak transcription	Gastric	stomach

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