Variant report

Variant	esv33071
Chromosome Location	chr4:165824896-165833165
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	CEBPB	chr4:165826250-165826537	K562	blood:	n/a	chr4:165826399-165826410
2	CEBPB	chr4:165826081-165826493	H1-hESC	embryonic stem cell:	n/a	chr4:165826085-165826098 chr4:165826399-165826410
3	CEBPB	chr4:165826242-165826531	HepG2	liver:	n/a	chr4:165826399-165826410
4	CEBPB	chr4:165826047-165826433	A549	lung:	n/a	chr4:165826085-165826098 chr4:165826399-165826410
5	FOS	chr4:165827675-165827830	MCF10A-Er-Src	breast:	n/a	chr4:165827750-165827761 chr4:165827749-165827756 chr4:165827749-165827758
6	FOS	chr4:165827687-165827812	MCF10A-Er-Src	breast:	n/a	chr4:165827750-165827761 chr4:165827749-165827756 chr4:165827749-165827758
7	FOS	chr4:165827676-165827842	MCF10A-Er-Src	breast:	n/a	chr4:165827750-165827761 chr4:165827749-165827756 chr4:165827749-165827758
8	FOS	chr4:165827714-165827810	MCF10A-Er-Src	breast:	n/a	chr4:165827750-165827761 chr4:165827749-165827756 chr4:165827749-165827758
9	FOSL2	chr4:165827640-165827873	MCF-7	breast:	n/a	chr4:165827750-165827761 chr4:165827749-165827756 chr4:165827749-165827758
10	FOSL2	chr4:165827551-165827827	HepG2	liver:	n/a	chr4:165827750-165827761 chr4:165827749-165827756 chr4:165827749-165827758
11	FOXA1	chr4:165827592-165827834	HepG2	liver:	n/a	n/a
12	GATA2	chr4:165827075-165827379	K562	blood:	n/a	n/a
13	JUND	chr4:165827630-165827830	HepG2	liver:	n/a	chr4:165827750-165827761 chr4:165827749-165827756 chr4:165827747-165827758 chr4:165827749-165827758
14	MAFK	chr4:165832454-165832613	HepG2	liver:	n/a	n/a
15	MAX	chr4:165826297-165826403	NB4	blood:	n/a	n/a
16	MYC	chr4:165825528-165825692	H1-hESC	embryonic stem cell:	n/a	n/a
17	NR2F2	chr4:165827284-165827549	K562	blood:	n/a	n/a
18	POLR2A	chr4:165824834-165824960	MCF10A-Er-Src	breast:	n/a	n/a
19	RFX5	chr4:165824908-165825078	K562	blood:	n/a	n/a
20	STAT3	chr4:165829645-165829771	MCF10A-Er-Src	breast:	n/a	n/a
21	TEAD4	chr4:165825386-165825751	H1-hESC	embryonic stem cell:	n/a	n/a
22	TEAD4	chr4:165825318-165825832	H1-hESC	embryonic stem cell:	n/a	n/a
23	USF1	chr4:165827230-165827339	HepG2	liver:	n/a	chr4:165827274-165827285

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:165830577..165832077-chr7:25164613..25166543,2	MCF-7	breast:

Variant related genes	Relation type
TRIM60P14	TF binding region
ENSG00000172115	chromatin interactions

Extended variants
information (count: 384 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:384 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72695877	chr4:165824910-165824911	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs67255911	chr4:165824928-165824929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576051585	chr4:165824932-165824933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575986788	chr4:165824934-165824935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186705965	chr4:165824960-165824961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558674333	chr4:165825094-165825095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200895336	chr4:165825130-165825131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576738526	chr4:165825207-165825208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs115647167	chr4:165825237-165825238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs57749446	chr4:165825247-165825248	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs549074983	chr4:165825261-165825262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565875417	chr4:165825272-165825273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570395589	chr4:165825286-165825287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574472167	chr4:165825293-165825294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs367861813	chr4:165825300-165825301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557867334	chr4:165825319-165825320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563646960	chr4:165825347-165825348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs530987605	chr4:165825352-165825353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552505068	chr4:165825420-165825421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537455071	chr4:165825447-165825448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528839175	chr4:165825457-165825458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535113033	chr4:165825474-165825475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547289892	chr4:165825487-165825488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190093858	chr4:165825496-165825497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs28565110	chr4:165825498-165825499	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs548137885	chr4:165825508-165825509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569657155	chr4:165825518-165825519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139827557	chr4:165825574-165825575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112375853	chr4:165825612-165825613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570311749	chr4:165825618-165825619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs34919658	chr4:165825647-165825648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs112879629	chr4:165825676-165825677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs11427240	chr4:165825686-165825687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs13142367	chr4:165825766-165825767	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs552834307	chr4:165825777-165825778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs59997868	chr4:165825788-165825789	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs368325951	chr4:165825812-165825813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563212310	chr4:165825823-165825824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs369528537	chr4:165825836-165825837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs75180630	chr4:165825854-165825855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575688672	chr4:165825864-165825865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs186690810	chr4:165825865-165825866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs72695879	chr4:165825928-165825929	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs528679452	chr4:165825966-165825967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs565022193	chr4:165825981-165825982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs527828303	chr4:165825992-165825993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs74664040	chr4:165826029-165826030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146706586	chr4:165826032-165826033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189539537	chr4:165826049-165826050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs77112381	chr4:165826111-165826112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	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
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Glioblastoma multiforme	22286061	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	16774939	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
intellectual deficit	22127048	CNVD
abnormal development	18461090	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:165813400-165825200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:165813600-165826200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr4:165819000-165825400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr4:165819000-165825800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr4:165819200-165825600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr4:165819400-165825800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr4:165820200-165826600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr4:165820200-165827600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr4:165820400-165825200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr4:165824000-165825200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr4:165824000-165825200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr4:165825200-165825800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr4:165825200-165825800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr4:165825200-165826400	Enhancers	H1 Cell Line	embryonic stem cell
15	chr4:165825200-165826800	Enhancers	Placenta	Placenta
16	chr4:165825400-165825600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr4:165825600-165826000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr4:165825600-165826800	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr4:165825600-165827800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr4:165825800-165826400	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr4:165825800-165826800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr4:165826000-165826200	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr4:165826000-165826200	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr4:165826200-165826600	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr4:165826200-165827400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr4:165826400-165827600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr4:165826600-165826800	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr4:165826600-165827600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr4:165826800-165827000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr4:165826800-165827600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr4:165826800-165828000	Weak transcription	Placenta	Placenta
32	chr4:165827400-165827800	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr4:165827600-165827800	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr4:165827600-165827800	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr4:165827600-165827800	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr4:165827600-165827800	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr4:165827800-165828000	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr4:165827800-165834800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr4:165828000-165828400	Enhancers	Placenta	Placenta

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