Variant report

Variant	esv2760848
Chromosome Location	chr4:93746511-93804020
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	chr4:93795845-93796108	HepG2	liver:	n/a	chr4:93795963-93795974
2	CEBPB	chr4:93753510-93753717	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr4:93796260-93796522	H1-hESC	embryonic stem cell:	n/a	chr4:93796369-93796380
4	CEBPB	chr4:93795868-93796039	IMR90	lung:	n/a	chr4:93795963-93795974
5	CEBPB	chr4:93796324-93796523	HepG2	liver:	n/a	chr4:93796369-93796380
6	CTCF	chr4:93758511-93758537	GM13976	blood:	n/a	n/a
7	CTCF	chr4:93780940-93781090	WERI-Rb-1	eye:	n/a	n/a
8	CTCF	chr4:93746868-93746973	GM20000	blood:	n/a	n/a
9	CTCF	chr4:93781016-93781216	GM12878	blood:	n/a	n/a
10	CTCF	chr4:93781000-93781150	GM12873	blood:	n/a	n/a
11	CTCF	chr4:93802078-93802118	Kidney_OC	kidney:	n/a	n/a
12	CTCF	chr4:93781063-93781091	Medullo	brain:	n/a	n/a
13	E2F4	chr4:93760978-93760979	MCF10A-Er-Src	breast:	n/a	n/a
14	FAM48A	chr4:93762160-93762230	GM12878	blood:	n/a	n/a
15	FOS	chr4:93793727-93794160	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr4:93792566-93792922	MCF10A-Er-Src	breast:	n/a	chr4:93792888-93792898 chr4:93792888-93792898
17	FOS	chr4:93792581-93792936	MCF10A-Er-Src	breast:	n/a	chr4:93792888-93792898 chr4:93792888-93792898
18	FOS	chr4:93793821-93794078	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr4:93793766-93794158	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr4:93792572-93792917	MCF10A-Er-Src	breast:	n/a	chr4:93792888-93792898 chr4:93792888-93792898
21	FOS	chr4:93746503-93746754	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr4:93793727-93794191	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr4:93746524-93746674	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr4:93746504-93746794	MCF10A-Er-Src	breast:	n/a	n/a
25	GABPA	chr4:93796259-93796335	HepG2	liver:	n/a	n/a
26	GATA2	chr4:93763828-93764231	SH-SY5Y	brain:	n/a	chr4:93763852-93763859 chr4:93763852-93763859 chr4:93764078-93764085 chr4:93763852-93763862 chr4:93764071-93764092 chr4:93764073-93764089 chr4:93764078-93764085 chr4:93763847-93763863 chr4:93763850-93763859 chr4:93764078-93764085 chr4:93763845-93763866 chr4:93763852-93763859
27	GATA2	chr4:93762004-93762398	SH-SY5Y	brain:	n/a	n/a
28	GATA3	chr4:93792811-93792955	SH-SY5Y	brain:	n/a	n/a
29	GATA3	chr4:93762046-93762426	SK-N-SH	brain:	n/a	chr4:93762407-93762418
30	GATA3	chr4:93763851-93764214	SH-SY5Y	brain:	n/a	chr4:93763852-93763859 chr4:93763852-93763859 chr4:93764078-93764085 chr4:93763852-93763862 chr4:93764071-93764092 chr4:93764073-93764089 chr4:93764078-93764085 chr4:93764078-93764085 chr4:93763852-93763859
31	GATA3	chr4:93762004-93762507	SH-SY5Y	brain:	n/a	chr4:93762407-93762418
32	GATA3	chr4:93761996-93762386	SK-N-SH	brain:	n/a	n/a
33	GATA3	chr4:93761832-93762514	MCF-7	breast:	n/a	chr4:93762407-93762418
34	GATA3	chr4:93762072-93762384	MCF-7	breast:	n/a	n/a
35	GATA3	chr4:93762042-93762292	T-47D	breast:	n/a	n/a
36	IRF1	chr4:93762393-93762403	K562	blood:	n/a	n/a
37	MAFF	chr4:93783688-93784030	K562	blood:	n/a	chr4:93783857-93783875
38	MAFF	chr4:93783672-93784051	HepG2	liver:	n/a	chr4:93783857-93783875
39	MAFF	chr4:93764949-93765285	HepG2	liver:	n/a	chr4:93765124-93765142
40	MAFF	chr4:93764963-93765270	K562	blood:	n/a	chr4:93765124-93765142
41	MAFK	chr4:93783675-93784049	HepG2	liver:	n/a	chr4:93783858-93783873 chr4:93783863-93783874 chr4:93783858-93783874 chr4:93783853-93783873
42	MAFK	chr4:93783686-93784046	HepG2	liver:	n/a	chr4:93783858-93783873 chr4:93783863-93783874 chr4:93783858-93783874 chr4:93783853-93783873
43	MAFK	chr4:93783674-93784049	IMR90	lung:	n/a	chr4:93783858-93783873 chr4:93783863-93783874 chr4:93783858-93783874 chr4:93783853-93783873
44	MAFK	chr4:93764964-93765281	HepG2	liver:	n/a	chr4:93765126-93765141
45	MAFK	chr4:93798097-93798144	H1-hESC	embryonic stem cell:	n/a	n/a
46	MAFK	chr4:93773506-93773618	H1-hESC	embryonic stem cell:	n/a	n/a
47	MAFK	chr4:93764952-93765314	HepG2	liver:	n/a	chr4:93765126-93765141
48	MAFK	chr4:93783679-93784022	H1-hESC	embryonic stem cell:	n/a	chr4:93783858-93783873 chr4:93783863-93783874 chr4:93783858-93783874 chr4:93783853-93783873
49	MAFK	chr4:93764952-93765304	IMR90	lung:	n/a	chr4:93765126-93765141
50	MAFK	chr4:93783539-93784085	GM12878	blood:	n/a	chr4:93783858-93783873 chr4:93783863-93783874 chr4:93783858-93783874 chr4:93783853-93783873

No.	Distal block	Cell Line	Cell type
1	chr4:93773449..93776266-chr4:93779103..93780772,2	MCF-7	breast:
2	chr4:93773449..93776266-chr4:93779103..93780772,2	MCF-7	breast:
3	chr4:93757984..93759775-chr4:93817140..93819795,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-9B6.1.1-2	chr4:93754836-93755124	ENSG00000248627.1
2	lnc-RP11-9B6.1.1-2	chr4:93759934-93759993	ENSG00000248627.1

Variant related genes	Relation type
ENSG00000248750	TF binding region
ENSG00000249239	TF binding region
ENSG00000248627	TF binding region

Extended variants
information (count: 2182 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:2182 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181263814	chr4:93746511-93746512	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs568545899	chr4:93746520-93746521	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs386677307	chr4:93746537-93746538	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs184087422	chr4:93746544-93746545	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs77736427	chr4:93746554-93746555	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs189102699	chr4:93746560-93746561	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs375705380	chr4:93746658-93746659	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs370268302	chr4:93746668-93746669	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs181042308	chr4:93746670-93746671	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs187163487	chr4:93746675-93746676	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs565600972	chr4:93746682-93746683	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs192317721	chr4:93746691-93746692	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs554420689	chr4:93746792-93746793	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs541454908	chr4:93746865-93746866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574483452	chr4:93746866-93746867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543192481	chr4:93746881-93746882	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs557072999	chr4:93746888-93746889	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs561069050	chr4:93746904-93746905	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs147870487	chr4:93746906-93746907	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs73837354	chr4:93746912-93746913	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs376263430	chr4:93746933-93746934	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs181478870	chr4:93746936-93746937	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs542420773	chr4:93746938-93746939	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs141565953	chr4:93746944-93746945	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs13147894	chr4:93746995-93746996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs531128392	chr4:93747022-93747023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550822241	chr4:93747051-93747052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs564221828	chr4:93747057-93747058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533167870	chr4:93747075-93747076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs186163760	chr4:93747082-93747083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565641057	chr4:93747106-93747107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534572374	chr4:93747107-93747108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs367917545	chr4:93747161-93747162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs548455119	chr4:93747163-93747164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568191606	chr4:93747192-93747193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs567859579	chr4:93747215-93747216	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs537237083	chr4:93747256-93747257	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs557108182	chr4:93747257-93747258	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs576985036	chr4:93747272-93747273	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs539447082	chr4:93747278-93747279	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs560064336	chr4:93747290-93747291	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs530450064	chr4:93747310-93747311	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs552966871	chr4:93747334-93747335	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs572788739	chr4:93747338-93747339	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs542208533	chr4:93747437-93747438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs562382868	chr4:93747449-93747450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs11721529	chr4:93747452-93747453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs190141155	chr4:93747459-93747460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs544362615	chr4:93747471-93747472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs564260285	chr4:93747491-93747492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
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
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	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
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	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
Cancer	19907438	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Autism	20841430	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:93709200-93752000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr4:93738600-93753600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr4:93745400-93758200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:93746200-93747200	Enhancers	Fetal Heart	heart
5	chr4:93746200-93747200	Enhancers	Fetal Intestine Large	intestine
6	chr4:93746200-93747200	Enhancers	Fetal Intestine Small	intestine
7	chr4:93746400-93747000	Enhancers	Fetal Lung	lung
8	chr4:93746600-93746800	Enhancers	Fetal Brain Male	brain
9	chr4:93746800-93747200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:93747200-93747400	Flanking Active TSS	Fetal Heart	heart
11	chr4:93747400-93747600	Enhancers	Fetal Brain Male	brain
12	chr4:93752000-93752400	Strong transcription	H1 Cell Line	embryonic stem cell
13	chr4:93752400-93757800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr4:93757800-93758200	Enhancers	H1 Cell Line	embryonic stem cell
15	chr4:93757800-93758600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr4:93757800-93759200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr4:93758200-93758400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr4:93758200-93802200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr4:93758400-93764200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr4:93758600-93760000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr4:93759200-93759600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr4:93759600-93759800	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr4:93759800-93767400	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr4:93760000-93760200	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr4:93760000-93760400	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr4:93760000-93760400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
27	chr4:93762400-93764000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr4:93764000-93766000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr4:93766000-93767000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:93767000-93767400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr4:93767200-93768000	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr4:93767200-93768000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr4:93767400-93768400	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr4:93767400-93768600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr4:93767400-93768600	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr4:93767600-93768400	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr4:93767800-93768400	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr4:93767800-93768600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr4:93767800-93768600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr4:93768000-93768600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr4:93768400-93769200	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr4:93768400-93773400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr4:93768600-93769200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr4:93768600-93773000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr4:93768600-93773400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr4:93769200-93769400	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr4:93769200-93770000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr4:93769400-93785000	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr4:93770000-93772800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr4:93772800-93773400	Enhancers	Fetal Intestine Small	intestine

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