Variant report

Variant	esv275315
Chromosome Location	chr4:77040424-77056493
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:54)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:54 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr4:77047407-77047682	K562	blood:	n/a	chr4:77047528-77047539 chr4:77047527-77047538
2	CEBPB	chr4:77045673-77046011	K562	blood:	n/a	chr4:77045842-77045853
3	CEBPB	chr4:77047392-77047669	IMR90	lung:	n/a	chr4:77047528-77047539 chr4:77047527-77047538
4	CEBPB	chr4:77047370-77047671	HepG2	liver:	n/a	chr4:77047528-77047539 chr4:77047527-77047538
5	CEBPB	chr4:77045706-77045952	IMR90	lung:	n/a	chr4:77045842-77045853
6	CEBPB	chr4:77045717-77045936	A549	lung:	n/a	chr4:77045842-77045853
7	CEBPB	chr4:77045704-77046000	HepG2	liver:	n/a	chr4:77045842-77045853
8	CTCF	chr4:77053600-77053750	HCPEpiC	choroid plexus:	n/a	n/a
9	CTCF	chr4:77053580-77053730	BE2_C	brain:	n/a	n/a
10	CTCF	chr4:77053600-77053750	HepG2	liver:	n/a	n/a
11	EBF1	chr4:77047467-77047571	GM12878	blood:	n/a	n/a
12	FOXA1	chr4:77049061-77049254	T-47D	breast:	n/a	n/a
13	GATA3	chr4:77048830-77049281	T-47D	breast:	n/a	n/a
14	GATA3	chr4:77048867-77049363	T-47D	breast:	n/a	n/a
15	GTF2F1	chr4:77041251-77041363	H1-hESC	embryonic stem cell:	n/a	n/a
16	IRF1	chr4:77053822-77053839	K562	blood:	n/a	n/a
17	JUND	chr4:77048757-77049324	T-47D	breast:	n/a	n/a
18	MAFK	chr4:77053106-77053251	HepG2	liver:	n/a	chr4:77053191-77053205 chr4:77053192-77053203
19	MAFK	chr4:77053102-77053302	HepG2	liver:	n/a	chr4:77053191-77053205 chr4:77053192-77053203
20	MAZ	chr4:77044130-77044145	HepG2	liver:	n/a	n/a
21	MAZ	chr4:77051750-77052062	HepG2	liver:	n/a	n/a
22	MYC	chr4:77047496-77047631	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr4:77049255-77049298	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr4:77046622-77046680	HepG2	liver:	n/a	n/a
25	POLR2A	chr4:77053125-77053130	HepG2	liver:	n/a	n/a
26	POLR2A	chr4:77047210-77047653	K562	blood:	n/a	n/a
27	POLR2A	chr4:77054255-77054293	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr4:77052873-77054055	K562	blood:	n/a	n/a
29	POLR2A	chr4:77055198-77055648	K562	blood:	n/a	n/a
30	POLR2A	chr4:77050914-77050920	HepG2	liver:	n/a	n/a
31	POLR2A	chr4:77044052-77044214	HepG2	liver:	n/a	n/a
32	POLR2A	chr4:77044183-77044283	K562	blood:	n/a	n/a
33	POLR2A	chr4:77049735-77050214	K562	blood:	n/a	n/a
34	POLR2A	chr4:77044782-77044836	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr4:77046578-77046620	HepG2	liver:	n/a	n/a
36	POLR2A	chr4:77046234-77046544	HepG2	liver:	n/a	n/a
37	POLR2A	chr4:77050712-77050739	HepG2	liver:	n/a	n/a
38	POLR2A	chr4:77040752-77040921	K562	blood:	n/a	n/a
39	POLR2A	chr4:77053944-77054220	K562	blood:	n/a	n/a
40	POLR2A	chr4:77040371-77040963	K562	blood:	n/a	n/a
41	POLR2A	chr4:77050741-77050901	HepG2	liver:	n/a	n/a
42	POLR2A	chr4:77051620-77052254	HepG2	liver:	n/a	n/a
43	POLR2A	chr4:77046615-77046626	K562	blood:	n/a	n/a
44	POLR2A	chr4:77050438-77050735	K562	blood:	n/a	n/a
45	POLR2A	chr4:77043419-77044705	K562	blood:	n/a	n/a
46	POLR2A	chr4:77042671-77042741	Gliobla	brain:	n/a	n/a
47	POLR2A	chr4:77052149-77052155	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr4:77046484-77046518	K562	blood:	n/a	n/a
49	POLR2A	chr4:77056429-77057181	K562	blood:	n/a	n/a
50	POLR2A	chr4:77044698-77044860	HepG2	liver:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:77049049..77051567-chr4:77051782..77053760,2	K562	blood:
2	chr4:77052258..77055216-chr4:77247896..77249907,2	K562	blood:
3	chr4:77054225..77056351-chr4:77067941..77069735,2	MCF-7	breast:
4	chr4:77040030..77041940-chr4:77068087..77070410,2	K562	blood:
5	chr4:77047745..77051558-chr4:77062903..77066801,7	K562	blood:
6	chr4:77056276..77058049-chr4:77058093..77060100,3	K562	blood:
7	chr4:77042420..77043971-chr4:77226885..77228605,2	K562	blood:
8	chr4:76910728..76913331-chr4:77052548..77055482,2	MCF-7	breast:
9	chr4:77037122..77039449-chr4:77042114..77044067,2	K562	blood:
10	chr4:77050141..77053778-chr4:77066166..77070004,4	MCF-7	breast:
11	chr20:52812919..52815134-chr4:77041883..77044239,2	MCF-7	breast:
12	chr4:77035266..77040414-chr4:77041570..77044067,5	K562	blood:
13	chr4:77056272..77058794-chr4:77068022..77070741,2	MCF-7	breast:
14	chr4:77055702..77058489-chr4:77060298..77061923,3	K562	blood:

No data

Variant related genes	Relation type
NUP54	TF binding region
ENSG00000138750	chromatin interactions
ENSG00000198301	chromatin interactions
ENSG00000118804	chromatin interactions

Extended variants
information (count: 677 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:677 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6532203	chr4:77040424-77040425	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs9307078	chr4:77040447-77040448	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs565551934	chr4:77040448-77040449	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs57960366	chr4:77040487-77040488	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs572392477	chr4:77040506-77040507	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs551086574	chr4:77040546-77040547	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs182393510	chr4:77040548-77040549	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs537088788	chr4:77040564-77040565	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs367784996	chr4:77040605-77040606	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs200216043	chr4:77040695-77040696	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs60333391	chr4:77040696-77040697	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs571588786	chr4:77040700-77040701	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs555064202	chr4:77040723-77040724	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs371981300	chr4:77040730-77040731	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs541476582	chr4:77040810-77040811	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs117125101	chr4:77040811-77040812	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs371283107	chr4:77040819-77040820	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs536164201	chr4:77040822-77040823	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs6532204	chr4:77040830-77040831	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs572702001	chr4:77040831-77040832	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs74346606	chr4:77040863-77040864	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs189072177	chr4:77040926-77040927	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs576452087	chr4:77040963-77040964	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs58319866	chr4:77041008-77041009	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs561944386	chr4:77041020-77041021	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs564059304	chr4:77041022-77041023	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs367959981	chr4:77041030-77041031	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs529251231	chr4:77041046-77041047	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs540946821	chr4:77041053-77041054	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs60160936	chr4:77041063-77041064	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs532991914	chr4:77041123-77041124	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs546434502	chr4:77041148-77041149	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs528632457	chr4:77041212-77041213	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs73826326	chr4:77041236-77041237	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs4859615	chr4:77041252-77041253	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs62299348	chr4:77041254-77041255	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs549022189	chr4:77041274-77041275	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs193049989	chr4:77041303-77041304	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs183743096	chr4:77041309-77041310	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs34109748	chr4:77041334-77041335	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs187475013	chr4:77041419-77041420	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs372024733	chr4:77041430-77041431	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs62299349	chr4:77041450-77041451	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs62299350	chr4:77041457-77041458	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs373224285	chr4:77041470-77041471	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs191881443	chr4:77041501-77041502	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs576534409	chr4:77041533-77041534	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs4859616	chr4:77041534-77041535	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs551429750	chr4:77041551-77041552	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs75552799	chr4:77041554-77041555	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Glioblastoma multiforme	21922591	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	21215367	CNVD

Chromatin state (count:536 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:77028000-77068600	Weak transcription	Gastric	stomach
2	chr4:77032200-77049200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr4:77032600-77067600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:77033000-77044800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr4:77033000-77046800	Strong transcription	Primary B cells from peripheral blood	blood
6	chr4:77033000-77046800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:77033000-77052000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr4:77033200-77044400	Weak transcription	Spleen	Spleen
9	chr4:77033200-77045200	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr4:77033200-77045600	Strong transcription	Rectal Mucosa Donor 31	rectum
11	chr4:77033200-77046200	Strong transcription	Liver	Liver
12	chr4:77033200-77046600	Strong transcription	Fetal Lung	lung
13	chr4:77033200-77058200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:77033200-77066000	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr4:77033200-77068400	Weak transcription	Small Intestine	intestine
16	chr4:77033400-77040600	Weak transcription	Lung	lung
17	chr4:77033400-77041000	Strong transcription	Duodenum Smooth Muscle	Duodenum
18	chr4:77033400-77041000	Strong transcription	Skeletal Muscle Female	skeletal muscle
19	chr4:77033400-77041200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr4:77033400-77042200	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr4:77033400-77043400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:77033400-77045600	Strong transcription	Adipose Nuclei	Adipose
23	chr4:77033400-77046000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:77033400-77046000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr4:77033400-77046200	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr4:77033400-77046400	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr4:77033400-77046600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr4:77033400-77047800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr4:77033400-77048200	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr4:77033400-77052000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr4:77033400-77052200	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr4:77033400-77065600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr4:77033400-77066000	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr4:77033400-77066600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr4:77033600-77047600	Strong transcription	Duodenum Mucosa	Duodenum
36	chr4:77033600-77065600	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr4:77033800-77066200	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr4:77034000-77045600	Strong transcription	Fetal Intestine Large	intestine
39	chr4:77034000-77046200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr4:77034000-77054000	Strong transcription	Dnd41	blood
41	chr4:77034000-77066000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr4:77034200-77040800	Strong transcription	Osteobl	bone
43	chr4:77034200-77041600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr4:77034200-77045400	Strong transcription	Placenta	Placenta
45	chr4:77034200-77045600	Strong transcription	Fetal Thymus	thymus
46	chr4:77034200-77046600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr4:77034400-77045600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr4:77034400-77046000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr4:77034400-77067200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:77034600-77043200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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