Variant report

Variant	esv2525937
Chromosome Location	chr4:76479338-76480842
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:90)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:90 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:76480609-76480806	HepG2	liver:	n/a	n/a
2	CTCF	chr4:76480600-76480750	HBMEC	blood vessel:	n/a	n/a
3	CTCF	chr4:76480660-76480810	GM12873	blood:	n/a	n/a
4	CTCF	chr4:76480640-76480790	GM12864	blood:	n/a	n/a
5	CTCF	chr4:76480740-76480890	RPTEC	kidney:	n/a	n/a
6	CTCF	chr4:76480700-76480850	HPF	lung:	n/a	n/a
7	CTCF	chr4:76480700-76480850	AG04450	lung:	n/a	n/a
8	CTCF	chr4:76480655-76480797	LNCaP	prostate:	n/a	n/a
9	CTCF	chr4:76480660-76480810	HMEC	breast:	n/a	n/a
10	CTCF	chr4:76480640-76480790	HVMF	connective:	n/a	n/a
11	CTCF	chr4:76480780-76480930	A549	lung:	n/a	n/a
12	CTCF	chr4:76480700-76480850	GM12875	blood:	n/a	n/a
13	CTCF	chr4:76480660-76480810	GM12866	blood:	n/a	n/a
14	CTCF	chr4:76480660-76480810	HEEpiC	esophagus:	n/a	n/a
15	CTCF	chr4:76480640-76480790	AG09309	skin:	n/a	n/a
16	CTCF	chr4:76480660-76480810	SAEC	small airway:	n/a	n/a
17	CTCF	chr4:76480740-76480787	A549	lung:	n/a	n/a
18	CTCF	chr4:76480740-76480890	K562	blood:	n/a	n/a
19	CTCF	chr4:76480780-76480930	NHEK	skin:	n/a	n/a
20	CTCF	chr4:76480732-76480744	Hela-S3	cervix:	n/a	n/a
21	CTCF	chr4:76480584-76480858	K562	blood:	n/a	n/a
22	CTCF	chr4:76480660-76480810	HCT-116	colon:	n/a	n/a
23	CTCF	chr4:76480640-76480790	Caco-2	colon:	n/a	n/a
24	CTCF	chr4:76480611-76480772	HepG2	liver:	n/a	n/a
25	CTCF	chr4:76480840-76480990	HepG2	liver:	n/a	n/a
26	CTCF	chr4:76480580-76480730	GM12871	blood:	n/a	n/a
27	CTCF	chr4:76480680-76480830	RPTEC	kidney:	n/a	n/a
28	CTCF	chr4:76480674-76480814	HepG2	liver:	n/a	n/a
29	CTCF	chr4:76480660-76480810	GM12864	blood:	n/a	n/a
30	CTCF	chr4:76480760-76480910	GM12869	blood:	n/a	n/a
31	CTCF	chr4:76480660-76480810	HA-sp	spinal cord:	n/a	n/a
32	CTCF	chr4:76480660-76480810	HRE	kidney:	n/a	n/a
33	CTCF	chr4:76480640-76480790	AG04449	skin:	n/a	n/a
34	CTCF	chr4:76480700-76480850	HMEC	breast:	n/a	n/a
35	CTCF	chr4:76480640-76480790	AG04450	lung:	n/a	n/a
36	CTCF	chr4:76480712-76480731	Hela-S3	cervix:	n/a	n/a
37	CTCF	chr4:76480700-76480850	BJ	skin:	n/a	n/a
38	CTCF	chr4:76480640-76480790	HPAF	blood vessel:	n/a	n/a
39	CTCF	chr4:76480700-76480850	HCPEpiC	choroid plexus:	n/a	n/a
40	CTCF	chr4:76480700-76480850	SK-N-SH_RA	brain:	n/a	n/a
41	CTCF	chr4:76480640-76480790	GM12873	blood:	n/a	n/a
42	CTCF	chr4:76480740-76480890	HBMEC	blood vessel:	n/a	n/a
43	CTCF	chr4:76480680-76480830	MCF-7	breast:	n/a	n/a
44	CTCF	chr4:76480700-76480850	HCFaa	heart:	n/a	n/a
45	CTCF	chr4:76480649-76480825	MCF-7	breast:	n/a	n/a
46	CTCF	chr4:76480600-76480750	BJ	skin:	n/a	n/a
47	CTCF	chr4:76480680-76480830	Hela-S3	cervix:	n/a	n/a
48	CTCF	chr4:76480692-76480771	Gliobla	brain:	n/a	n/a
49	CTCF	chr4:76480700-76480850	NHEK	skin:	n/a	n/a
50	CTCF	chr4:76480740-76480890	HEEpiC	esophagus:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:76480681-76480731	HMEC	breast:	n/a
2	chr4:76480681-76480731	HUVEC	blood vessel:	n/a
3	chr4:76480681-76480731	GM19239	blood:	n/a
4	chr4:76480681-76480731	A549	lung:	n/a
5	chr4:76480681-76480731	GM12892	blood:	n/a
6	chr4:76480681-76480731	HEK293	kidney:	embryo
7	chr4:76480681-76480731	SKMC	muscle:	n/a
8	chr4:76480681-76480731	SK-N-SH	brain:	n/a
9	chr4:76480681-76480731	T-47D	breast:	n/a
10	chr4:76480681-76480731	Caco-2	colon:	n/a
11	chr4:76480681-76480731	HCF	heart:	n/a
12	chr4:76480681-76480731	BJ	skin:	n/a
13	chr4:76480681-76480731	HCM	heart:	n/a
14	chr4:76480681-76480731	GM06990	blood:	n/a
15	chr4:76480681-76480731	LNCaP	prostate:	n/a
16	chr4:76480681-76480731	ECC-1	luminal epithelium:	n/a
17	chr4:76480681-76480731	HepG2	liver:	n/a
18	chr4:76480681-76480731	GM12891	blood:	n/a
19	chr4:76480681-76480731	CMK	blood:	n/a
20	chr4:76480681-76480731	PFSK-1	brain:	n/a
21	chr4:76480681-76480731	Jurkat	blood:	n/a
22	chr4:76480681-76480731	HRPEpiC	eye:	n/a
23	chr4:76480681-76480731	SK-N-SH_RA	brain:	n/a
24	chr4:76480681-76480731	HL-60	blood:	n/a
25	chr4:76480681-76480731	NH-A	brain:	n/a
26	chr4:76480681-76480731	PANC-1	pancreas:	n/a
27	chr4:76480681-76480731	BE2_C	brain:	n/a
28	chr4:76480681-76480731	Hela-S3	cervix:	n/a
29	chr4:76480681-76480731	AG04449	skin:	fetal
30	chr4:76480681-76480731	U87	brain:	n/a
31	chr4:76480681-76480731	NT2-D1	testis:	n/a
32	chr4:76480681-76480731	SAEC	small airway:	n/a
33	chr4:76480681-76480731	ovcar-3	ovarian:	n/a
34	chr4:76480681-76480731	NHDF-neo	bronchial:	n/a
35	chr4:76480681-76480731	HEEpiC	esophagus:	n/a
36	chr4:76480681-76480731	MCF10A-Er-Src	breast:	n/a
37	chr4:76480681-76480731	HPAEpiC	pulmonary alveolar:	n/a
38	chr4:76480681-76480731	IMR90	lung:	fetal
39	chr4:76480681-76480731	AG09309	skin:	n/a
40	chr4:76480681-76480731	HIPEpiC	eye:	n/a
41	chr4:76480681-76480731	Hepatocyte	liver:	n/a
42	chr4:76480681-76480731	AG04450	lung:	fetal
43	chr4:76480681-76480731	HAEpiC	amniotic membrane:	n/a
44	chr4:76480681-76480731	K562	blood:	n/a
45	chr4:76480681-76480731	MCF-7	breast:	n/a
46	chr4:76480681-76480731	PrEC	prostate:	n/a
47	chr4:76480681-76480731	SK-N-MC	brain:	n/a
48	chr4:76480681-76480731	AoSMC	blood vessel:	n/a
49	chr4:76480681-76480731	GM12878	blood:	n/a
50	chr4:76480681-76480731	NB4	blood:	n/a

No data

Variant related genes	Relation type
C4orf26	TF binding region
C4orf26	CpG island

Extended variants
information (count: 56 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191043010	chr4:76479352-76479353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs547884699	chr4:76479353-76479354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559223753	chr4:76479397-76479398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs34944703	chr4:76479438-76479439	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs533392785	chr4:76479448-76479449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544705200	chr4:76479469-76479470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs17000639	chr4:76479502-76479503	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs532008638	chr4:76479568-76479569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs372028519	chr4:76479576-76479577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs17000640	chr4:76479587-76479588	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs146593841	chr4:76479592-76479593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564251025	chr4:76479616-76479617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs569216596	chr4:76479626-76479627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183847282	chr4:76479673-76479674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs62318655	chr4:76479712-76479713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs371130559	chr4:76479737-76479738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs200696432	chr4:76479760-76479761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs11728930	chr4:76479785-76479786	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs56971713	chr4:76479861-76479862	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs116029688	chr4:76479894-76479895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2061741	chr4:76479966-76479967	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs188817747	chr4:76479977-76479978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191516372	chr4:76479983-76479984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567116237	chr4:76479993-76479994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183370876	chr4:76480049-76480050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553010227	chr4:76480072-76480073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536370855	chr4:76480095-76480096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377018927	chr4:76480124-76480125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548146363	chr4:76480158-76480159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556965505	chr4:76480193-76480194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533717010	chr4:76480235-76480236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188057903	chr4:76480250-76480251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544087187	chr4:76480253-76480254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562406763	chr4:76480291-76480292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191530872	chr4:76480296-76480297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183643045	chr4:76480302-76480303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs141452936	chr4:76480303-76480304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570435061	chr4:76480312-76480313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559914596	chr4:76480322-76480323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs202139871	chr4:76480362-76480363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533244114	chr4:76480363-76480364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551464537	chr4:76480370-76480371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12647915	chr4:76480371-76480372	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs530855318	chr4:76480389-76480390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548864072	chr4:76480414-76480415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145145404	chr4:76480527-76480528	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs534800626	chr4:76480554-76480555	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs552857914	chr4:76480626-76480627	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs571441522	chr4:76480644-76480645	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs186475815	chr4:76480681-76480682	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Non-small cell lung cancer	21829676	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
Myelofibrosis	22110671	CNVD
Abnormal phenotypes	18644119	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Autism	18414403	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76458400-76480800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr4:76458800-76480600	Weak transcription	Primary B cells from peripheral blood	blood
3	chr4:76458800-76480600	Weak transcription	Duodenum Mucosa	Duodenum
4	chr4:76465800-76480600	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr4:76468400-76480800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:76469200-76480200	Weak transcription	NHEK	skin
7	chr4:76470600-76480600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:76471200-76480400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:76471800-76480800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr4:76472400-76480400	Weak transcription	HMEC	breast
11	chr4:76473200-76480400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:76473600-76480600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr4:76474800-76480800	Weak transcription	HSMMtube	muscle
14	chr4:76475000-76480200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr4:76479200-76479800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:76480200-76480800	Enhancers	NHEK	skin
17	chr4:76480200-76481400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr4:76480400-76480600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr4:76480400-76480600	Enhancers	GM12878-XiMat	blood
20	chr4:76480400-76480800	Enhancers	HMEC	breast
21	chr4:76480400-76480800	Enhancers	NH-A	brain
22	chr4:76480400-76481000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr4:76480400-76481400	Enhancers	Placenta	Placenta
24	chr4:76480400-76481800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:76480400-76481800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr4:76480600-76480800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr4:76480600-76480800	Flanking Active TSS	Duodenum Mucosa	Duodenum
28	chr4:76480600-76480800	Enhancers	HepG2	liver
29	chr4:76480600-76481000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr4:76480600-76481000	Enhancers	A549	lung
31	chr4:76480600-76481000	Enhancers	HSMM	muscle
32	chr4:76480600-76481200	Active TSS	Rectal Mucosa Donor 29	rectum
33	chr4:76480600-76481200	Enhancers	Osteobl	bone
34	chr4:76480600-76481400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr4:76480600-76481400	Enhancers	K562	blood
36	chr4:76480600-76481600	Enhancers	Primary B cells from peripheral blood	blood
37	chr4:76480600-76481600	Flanking Active TSS	GM12878-XiMat	blood
38	chr4:76480600-76481800	Enhancers	Placenta Amnion	Placenta Amnion
39	chr4:76480600-76482200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:76480600-76482400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr4:76480800-76481000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr4:76480800-76481000	Flanking Active TSS	HepG2	liver
43	chr4:76480800-76481000	Enhancers	HSMMtube	muscle
44	chr4:76480800-76481200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr4:76480800-76481200	Active TSS	Duodenum Mucosa	Duodenum
46	chr4:76480800-76481200	Flanking Active TSS	NHEK	skin
47	chr4:76480800-76481400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr4:76480800-76481400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr4:76480800-76481400	Flanking Active TSS	HMEC	breast
50	chr4:76480800-76481600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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