Variant report

Variant	esv3511179
Chromosome Location	chr4:120962304-120966302
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	chr4:120965027-120965354	K562	blood:	n/a	chr4:120965180-120965201
4	IRF1	chr4:120965013-120965331	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
7	STAT3	chr4:120962724-120962883	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:120958158..120959809-chr4:120965003..120967800,2	K562	blood:
2	chr4:120965543..120968090-chr4:120982539..120985159,2	K562	blood:
3	chr4:120964367..120966016-chr4:120972622..120975603,2	K562	blood:
4	chr4:120965102..120968292-chr4:120969292..120973289,4	K562	blood:
5	chr4:120956553..120960562-chr4:120961898..120965735,4	K562	blood:

Variant related genes	Relation type
ENSG00000253825	TF binding region

Extended variants
information (count: 126 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:126 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559446053	chr4:120962309-120962310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs143808663	chr4:120962341-120962342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs1845344	chr4:120962385-120962386	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
4	rs569542868	chr4:120962396-120962397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182342125	chr4:120962404-120962405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551962429	chr4:120962453-120962454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186649201	chr4:120962466-120962467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562227441	chr4:120962474-120962475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534295402	chr4:120962482-120962483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs148098514	chr4:120962483-120962484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs17009347	chr4:120962561-120962562	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs142342110	chr4:120962596-120962597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556545892	chr4:120962614-120962615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575163599	chr4:120962637-120962638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs78086187	chr4:120962669-120962670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148771644	chr4:120962693-120962694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs190123983	chr4:120962701-120962702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549544721	chr4:120962727-120962728	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs146561780	chr4:120962749-120962750	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs139101791	chr4:120962807-120962808	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs560024894	chr4:120962839-120962840	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs529005557	chr4:120962844-120962845	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs548668148	chr4:120962852-120962853	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs182398193	chr4:120962867-120962868	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs80329173	chr4:120962917-120962918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552148088	chr4:120962963-120962964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571857438	chr4:120962987-120962988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs187443277	chr4:120963144-120963145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs565509281	chr4:120963244-120963245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs547849789	chr4:120963251-120963252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs143646793	chr4:120963260-120963261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554300245	chr4:120963279-120963280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs34652096	chr4:120963280-120963281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs200792039	chr4:120963281-120963282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs397879490	chr4:120963287-120963288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs551698671	chr4:120963321-120963322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568662868	chr4:120963336-120963337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs17009361	chr4:120963401-120963402	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs554289318	chr4:120963469-120963470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373565930	chr4:120963534-120963535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556099454	chr4:120963587-120963588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs78565885	chr4:120963609-120963610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs193180751	chr4:120963624-120963625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557671511	chr4:120963630-120963631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537189526	chr4:120963647-120963648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138577157	chr4:120963721-120963722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138875839	chr4:120963779-120963780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113241994	chr4:120963780-120963781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557579253	chr4:120963802-120963803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185097466	chr4:120963826-120963827	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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120962200-120962600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr4:120962200-120987200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:120962400-120963200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:120962600-120963400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr4:120962800-120963200	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr4:120966000-120975600	Weak transcription	Dnd41	blood

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