Variant report

Variant	esv2753470
Chromosome Location	chr4:86804078-86844350
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	BRCA1	chr4:86811827-86811828	GM12878	blood:	n/a	n/a
2	CEBPB	chr4:86822526-86823017	A549	lung:	n/a	n/a
3	CEBPB	chr4:86831561-86831722	HepG2	liver:	n/a	chr4:86831593-86831604
4	CEBPB	chr4:86822575-86823018	A549	lung:	n/a	n/a
5	CEBPB	chr4:86822635-86822935	A549	lung:	n/a	n/a
6	CEBPB	chr4:86822659-86822977	IMR90	lung:	n/a	n/a
7	CTCF	chr4:86825120-86825270	AG09309	skin:	n/a	n/a
8	CTCF	chr4:86827044-86827063	GM13976	blood:	n/a	n/a
9	CTCF	chr4:86842942-86843011	Kidney_OC	kidney:	n/a	n/a
10	CTCF	chr4:86831032-86831138	Kidney_OC	kidney:	n/a	n/a
11	CTCF	chr4:86836769-86836853	GM13977	blood:	n/a	n/a
12	CTCF	chr4:86842925-86843019	Spleen_OC	spleen:	n/a	n/a
13	E2F4	chr4:86830030-86830127	MCF10A-Er-Src	breast:	n/a	n/a
14	EP300	chr4:86840064-86840162	GM12878	blood:	n/a	n/a
15	EP300	chr4:86822559-86823074	A549	lung:	n/a	n/a
16	FOS	chr4:86822673-86822912	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr4:86822632-86822923	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr4:86807755-86808528	HUVEC	blood vessel:	n/a	chr4:86808005-86808015 chr4:86808006-86808013 chr4:86808005-86808014 chr4:86807850-86807859 chr4:86808004-86808015 chr4:86808006-86808015
19	FOS	chr4:86822727-86822863	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr4:86822647-86822916	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr4:86807879-86808079	MCF10A-Er-Src	breast:	n/a	chr4:86808005-86808015 chr4:86808006-86808013 chr4:86808005-86808014 chr4:86808004-86808015 chr4:86808006-86808015
22	FOSL2	chr4:86807863-86808123	A549	lung:	n/a	chr4:86808005-86808015 chr4:86808006-86808013 chr4:86808005-86808014 chr4:86808006-86808015
23	FOXA1	chr4:86822647-86822986	T-47D	breast:	n/a	n/a
24	FOXA1	chr4:86822691-86823015	T-47D	breast:	n/a	n/a
25	FOXA2	chr4:86816025-86816331	A549	lung:	n/a	n/a
26	FOXA2	chr4:86822639-86823004	A549	lung:	n/a	n/a
27	GATA2	chr4:86840593-86840984	SH-SY5Y	brain:	n/a	n/a
28	GATA3	chr4:86840370-86841025	SH-SY5Y	brain:	n/a	chr4:86840560-86840581
29	GATA3	chr4:86822525-86823037	MCF-7	breast:	n/a	n/a
30	GATA3	chr4:86822444-86823153	A549	lung:	n/a	n/a
31	GATA3	chr4:86820534-86820990	MCF-7	breast:	n/a	n/a
32	GATA3	chr4:86830926-86831292	MCF-7	breast:	n/a	n/a
33	GATA3	chr4:86822609-86823020	T-47D	breast:	n/a	n/a
34	GATA3	chr4:86822676-86822979	T-47D	breast:	n/a	n/a
35	GATA3	chr4:86820408-86821155	MCF-7	breast:	n/a	n/a
36	IRF1	chr4:86833297-86833322	K562	blood:	n/a	n/a
37	JUN	chr4:86807830-86807961	HepG2	liver:	n/a	chr4:86807850-86807859
38	JUND	chr4:86808929-86809109	HepG2	liver:	n/a	chr4:86809017-86809026
39	MAFK	chr4:86824468-86824571	HepG2	liver:	n/a	n/a
40	MAFK	chr4:86824388-86824430	Hela-S3	cervix:	n/a	n/a
41	MAFK	chr4:86824355-86824629	HepG2	liver:	n/a	n/a
42	MYC	chr4:86822695-86822922	MCF10A-Er-Src	breast:	n/a	n/a
43	MYC	chr4:86822912-86822934	MCF10A-Er-Src	breast:	n/a	n/a
44	NFYB	chr4:86843486-86843570	GM12878	blood:	n/a	n/a
45	PBX3	chr4:86816076-86816251	GM12878	blood:	n/a	n/a
46	POLR2A	chr4:86844259-86844265	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr4:86811835-86811936	HUVEC	blood vessel:	n/a	n/a
48	POLR2A	chr4:86808041-86808339	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr4:86803696-86804401	HUVEC	blood vessel:	n/a	n/a
50	POLR2A	chr4:86810317-86810420	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:86758093..86760173-chr4:86804562..86807184,2	MCF-7	breast:
2	chr4:86829743..86832305-chr4:86837536..86839356,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000265774	TF binding region
ARHGAP24	TF binding region
ENSG00000265774	chromatin interactions

Extended variants
information (count: 1426 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:1426 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7688236	chr4:86804078-86804079	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs572768494	chr4:86804083-86804084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561971643	chr4:86804124-86804125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536591011	chr4:86804244-86804245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555124007	chr4:86804258-86804259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187750586	chr4:86804318-86804319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544013457	chr4:86804334-86804335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148369763	chr4:86804395-86804396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs79832695	chr4:86804437-86804438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540983498	chr4:86804474-86804475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142707677	chr4:86804515-86804516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs527578782	chr4:86804533-86804534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191086122	chr4:86804534-86804535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs72970089	chr4:86804564-86804565	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs79031881	chr4:86804565-86804566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7693907	chr4:86804636-86804637	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs7693916	chr4:86804656-86804657	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs571325311	chr4:86804685-86804686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532285866	chr4:86804692-86804693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs183246728	chr4:86804858-86804859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565569218	chr4:86804874-86804875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs116230373	chr4:86804919-86804920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554933046	chr4:86804920-86804921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35083003	chr4:86804934-86804935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs397994360	chr4:86804936-86804937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201034883	chr4:86804942-86804943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570352453	chr4:86804963-86804964	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147341842	chr4:86804985-86804986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs58508593	chr4:86805007-86805008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs187525205	chr4:86805047-86805048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569673364	chr4:86805061-86805062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576915277	chr4:86805069-86805070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192139432	chr4:86805075-86805076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552929056	chr4:86805090-86805091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs185043733	chr4:86805121-86805122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs373873097	chr4:86805131-86805132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs542224613	chr4:86805134-86805135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs376499542	chr4:86805244-86805245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs560996892	chr4:86805259-86805260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs531643448	chr4:86805293-86805294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs534814252	chr4:86805294-86805295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs76415930	chr4:86805308-86805309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs138016989	chr4:86805319-86805320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs75791587	chr4:86805328-86805329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs565781981	chr4:86805354-86805355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs529627833	chr4:86805376-86805377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548169338	chr4:86805378-86805379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs115240351	chr4:86805432-86805433	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537391231	chr4:86805443-86805444	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187922185	chr4:86805472-86805473	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	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
lymphocytic leukemia	21291569	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
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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Prostate cancer	16573809	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	22522925	CNVD
Chronic lymphocytic leukemia	21215367	CNVD

Chromatin state (count:231 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86750000-86809200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:86788000-86807400	Weak transcription	Left Ventricle	heart
3	chr4:86788000-86810800	Weak transcription	Primary B cells from peripheral blood	blood
4	chr4:86788000-86812400	Weak transcription	HSMM	muscle
5	chr4:86788200-86812000	Weak transcription	Fetal Muscle Leg	muscle
6	chr4:86790800-86835400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:86791000-86804200	Weak transcription	HSMMtube	muscle
8	chr4:86791200-86844400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:86794600-86804800	Weak transcription	HUVEC	blood vessel
10	chr4:86794800-86805600	Weak transcription	Pancreas	Pancrea
11	chr4:86800600-86805400	Weak transcription	Primary B cells from cord blood	blood
12	chr4:86802200-86804400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr4:86802400-86809000	Weak transcription	NHDF-Ad	bronchial
14	chr4:86802800-86805400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:86803800-86804200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:86803800-86804400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:86803800-86805600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr4:86804000-86804400	Enhancers	H1 Cell Line	embryonic stem cell
19	chr4:86804000-86804400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr4:86804000-86804800	Enhancers	Aorta	Aorta
21	chr4:86804200-86804400	Enhancers	HSMMtube	muscle
22	chr4:86804400-86804600	Weak transcription	HSMMtube	muscle
23	chr4:86804400-86804800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr4:86804400-86805600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr4:86804800-86805000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr4:86804800-86808200	Enhancers	HUVEC	blood vessel
27	chr4:86805000-86807400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr4:86805400-86805600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr4:86805400-86805600	Strong transcription	Primary B cells from cord blood	blood
30	chr4:86805600-86805800	Enhancers	Pancreas	Pancrea
31	chr4:86805600-86806000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr4:86805600-86806400	Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr4:86805600-86808600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr4:86805600-86810200	Weak transcription	Primary B cells from cord blood	blood
35	chr4:86805800-86806000	Weak transcription	Pancreas	Pancrea
36	chr4:86807200-86807600	Enhancers	A549	lung
37	chr4:86807400-86807800	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr4:86807600-86808000	Flanking Active TSS	A549	lung
39	chr4:86807600-86808200	Enhancers	Muscle Satellite Cultured Cells	--
40	chr4:86807800-86811600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr4:86808000-86808800	Enhancers	A549	lung
42	chr4:86808200-86846000	Weak transcription	HUVEC	blood vessel
43	chr4:86808600-86808800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr4:86808800-86809200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr4:86809200-86810000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr4:86810000-86810400	Weak transcription	NHDF-Ad	bronchial
47	chr4:86810000-86810600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr4:86810200-86811200	Enhancers	Primary B cells from cord blood	blood
49	chr4:86810600-86810800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr4:86810800-86811200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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