Variant report

Variant	esv3370581
Chromosome Location	chr4:118308398-118331294
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	BACH1	chr4:118323436-118323468	H1-hESC	embryonic stem cell:	n/a	n/a
2	CBX3	chr4:118321267-118321684	HCT-116	colon:	n/a	chr4:118321304-118321315
3	CEBPB	chr4:118323695-118323971	HepG2	liver:	n/a	chr4:118323852-118323865 chr4:118323852-118323863 chr4:118323803-118323820 chr4:118323852-118323865 chr4:118323805-118323816 chr4:118323852-118323863 chr4:118323853-118323864 chr4:118323852-118323865 chr4:118323768-118323785
4	CEBPB	chr4:118314143-118314469	IMR90	lung:	n/a	n/a
5	CEBPB	chr4:118323728-118323964	IMR90	lung:	n/a	chr4:118323852-118323865 chr4:118323852-118323863 chr4:118323803-118323820 chr4:118323852-118323865 chr4:118323805-118323816 chr4:118323852-118323863 chr4:118323853-118323864 chr4:118323852-118323865 chr4:118323768-118323785
6	CEBPB	chr4:118321302-118321657	IMR90	lung:	n/a	n/a
7	CTCF	chr4:118313776-118313934	MCF-7	breast:	n/a	n/a
8	CTCF	chr4:118318460-118318610	BE2_C	brain:	n/a	n/a
9	CTCF	chr4:118313760-118313910	HepG2	liver:	n/a	n/a
10	CTCF	chr4:118313796-118313934	MCF-7	breast:	n/a	n/a
11	CTCF	chr4:118313762-118313952	MCF-7	breast:	n/a	n/a
12	CTCF	chr4:118313820-118313970	MCF-7	breast:	n/a	n/a
13	CTCF	chr4:118313702-118314051	MCF-7	breast:	n/a	n/a
14	CTCF	chr4:118319358-118319397	Medullo	brain:	n/a	n/a
15	CTCF	chr4:118313766-118313921	HepG2	liver:	n/a	n/a
16	CTCF	chr4:118313820-118313901	LNCaP	prostate:	n/a	n/a
17	E2F4	chr4:118321253-118322106	MCF10A-Er-Src	breast:	n/a	n/a
18	EBF1	chr4:118321675-118321984	GM12878	blood:	n/a	chr4:118321813-118321824
19	ELF1	chr4:118322429-118322791	GM12878	blood:	n/a	n/a
20	EP300	chr4:118321072-118321461	SK-N-SH_RA	brain:	n/a	n/a
21	EP300	chr4:118321033-118321521	SK-N-SH_RA	brain:	n/a	chr4:118321464-118321474
22	EP300	chr4:118320873-118321800	SK-N-SH	brain:	n/a	chr4:118321464-118321474 chr4:118321753-118321763
23	EP300	chr4:118320963-118321894	ECC-1	luminal epithelium:	n/a	chr4:118321464-118321474 chr4:118321753-118321763 chr4:118321836-118321846
24	FOS	chr4:118321255-118321703	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr4:118321246-118321760	HUVEC	blood vessel:	n/a	n/a
26	FOS	chr4:118321069-118321082	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr4:118321341-118321944	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr4:118321308-118321975	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr4:118321193-118321944	MCF10A-Er-Src	breast:	n/a	n/a
30	FOSL1	chr4:118321254-118321707	HCT-116	colon:	n/a	n/a
31	FOSL2	chr4:118321171-118321758	SK-N-SH	brain:	n/a	n/a
32	FOXA1	chr4:118321325-118321588	ECC-1	luminal epithelium:	n/a	n/a
33	FOXA1	chr4:118321259-118321938	HepG2	liver:	n/a	n/a
34	FOXA1	chr4:118321196-118321573	ECC-1	luminal epithelium:	n/a	n/a
35	FOXA1	chr4:118313724-118314054	HepG2	liver:	n/a	n/a
36	FOXA1	chr4:118321626-118321836	T-47D	breast:	n/a	n/a
37	FOXA1	chr4:118313713-118313930	T-47D	breast:	n/a	n/a
38	FOXA1	chr4:118321255-118321716	HepG2	liver:	n/a	n/a
39	FOXA1	chr4:118313725-118313994	HepG2	liver:	n/a	n/a
40	FOXA2	chr4:118321183-118321835	HepG2	liver:	n/a	n/a
41	FOXA2	chr4:118313766-118314000	HepG2	liver:	n/a	n/a
42	FOXA2	chr4:118321264-118321574	HepG2	liver:	n/a	n/a
43	FOXM1	chr4:118320999-118321952	ECC-1	luminal epithelium:	n/a	n/a
44	GATA2	chr4:118320865-118321520	HUVEC	blood vessel:	n/a	chr4:118321051-118321068 chr4:118321084-118321094 chr4:118321379-118321395 chr4:118321084-118321093
45	GATA3	chr4:118320653-118321798	SK-N-SH	brain:	n/a	chr4:118321735-118321746 chr4:118321051-118321068 chr4:118321084-118321094 chr4:118321379-118321395 chr4:118321084-118321093
46	GATA3	chr4:118327278-118327432	SH-SY5Y	brain:	n/a	n/a
47	GATA3	chr4:118314848-118314987	SH-SY5Y	brain:	n/a	n/a
48	GATA3	chr4:118320691-118321813	SK-N-SH	brain:	n/a	chr4:118321735-118321746 chr4:118321051-118321068 chr4:118321084-118321094 chr4:118321379-118321395 chr4:118321084-118321093
49	JUN	chr4:118321024-118321142	HepG2	liver:	n/a	n/a
50	JUN	chr4:118321377-118321643	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	4:118313000-118315008..4:118319405-118319911	H1-hESC	embryonic stem cell:	embryo
2	4:118320200-118324249..4:118722741-118723956	H1-hESC	embryonic stem cell:	embryo
3	4:118313000-118315008..4:118319405-118319911	H1-hESC	embryonic stem cell:	embryo
4	4:118319405-118319911..4:118687551-118689447	H1-hESC	embryonic stem cell:	embryo
5	4:118320200-118324249..4:118414019-118416561	Hela-S3	cervix:
6	4:118312235-118312291..4:118319405-118319911	H1-hESC	embryonic stem cell:	embryo
7	4:118319405-118319911..4:118454469-118464115	H1-hESC	embryonic stem cell:	embryo
8	4:118327401-118331084..4:118559839-118566258	GM12878	blood:
9	4:118312235-118312291..4:118319405-118319911	H1-hESC	embryonic stem cell:	embryo
10	4:118320200-118324249..4:118559839-118566258	GM12878	blood:
11	4:118320200-118324249..4:118735152-118737645	GM12878	blood:
12	4:118319405-118319911..4:118559839-118566258	H1-hESC	embryonic stem cell:	embryo
13	4:118312235-118312291..4:118636913-118638401	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
RPSAP35	TF binding region

Extended variants
information (count: 572 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:572 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538532413	chr4:118308419-118308420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs189880770	chr4:118308444-118308445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558451695	chr4:118308449-118308450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192848133	chr4:118308504-118308505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116795761	chr4:118308550-118308551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs17865653	chr4:118308559-118308560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534662800	chr4:118308603-118308604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185198519	chr4:118308631-118308632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189074975	chr4:118308672-118308673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543598788	chr4:118308727-118308728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369321690	chr4:118308728-118308729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557520085	chr4:118308772-118308773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs117109851	chr4:118308786-118308787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546442042	chr4:118308797-118308798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560054761	chr4:118308855-118308856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528804302	chr4:118308892-118308893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150133455	chr4:118308905-118308906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs61623044	chr4:118308913-118308914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560771797	chr4:118308961-118308962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529788572	chr4:118308974-118308975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7690641	chr4:118309084-118309085	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs28947816	chr4:118309153-118309154	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs532145908	chr4:118309163-118309164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551965922	chr4:118309164-118309165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs17869494	chr4:118309185-118309186	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs534607026	chr4:118309234-118309235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs554944146	chr4:118309275-118309276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs568402465	chr4:118309296-118309297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537535309	chr4:118309324-118309325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs557149259	chr4:118309363-118309364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs577432783	chr4:118309386-118309387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs13113229	chr4:118309390-118309391	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs553608094	chr4:118309400-118309401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs28947817	chr4:118309409-118309410	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs542587947	chr4:118309451-118309452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs186450737	chr4:118309516-118309517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs187973458	chr4:118309551-118309552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs373612057	chr4:118309555-118309556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs577491781	chr4:118309595-118309596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs13113670	chr4:118309603-118309604	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs143604562	chr4:118309622-118309623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs17869531	chr4:118309636-118309637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs17861191	chr4:118309703-118309704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs373922690	chr4:118309823-118309824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565584664	chr4:118309885-118309886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9985925	chr4:118309904-118309905	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs370084780	chr4:118309943-118309944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547139441	chr4:118310005-118310006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565232243	chr4:118310010-118310011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34504345	chr4:118310088-118310089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	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
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	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
Esophageal cancer	21851588	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Autism	19246517	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:118307200-118309200	Weak transcription	Brain Anterior Caudate	brain
2	chr4:118307200-118321000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:118309200-118309800	Enhancers	Brain Anterior Caudate	brain
4	chr4:118309400-118309600	Enhancers	Fetal Brain Male	brain
5	chr4:118313800-118322200	Weak transcription	Pancreas	Pancrea
6	chr4:118320600-118321000	Enhancers	HSMM	muscle
7	chr4:118320600-118321000	Enhancers	HUVEC	blood vessel
8	chr4:118320800-118321000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr4:118320800-118321000	Enhancers	Dnd41	blood
10	chr4:118320800-118321200	Enhancers	NH-A	brain
11	chr4:118321000-118321400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr4:118321000-118321400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr4:118321000-118321400	Active TSS	Brain Cingulate Gyrus	brain
14	chr4:118321000-118321400	Enhancers	HMEC	breast
15	chr4:118321000-118321400	Flanking Active TSS	HSMM	muscle
16	chr4:118321000-118321600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:118321000-118321600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:118321000-118321600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr4:118321000-118321600	Flanking Active TSS	Dnd41	blood
20	chr4:118321000-118321600	Flanking Active TSS	HUVEC	blood vessel
21	chr4:118321000-118321600	Active TSS	Osteobl	bone
22	chr4:118321000-118321800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr4:118321000-118321800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:118321000-118321800	Enhancers	NHEK	skin
25	chr4:118321200-118321400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr4:118321200-118321400	Enhancers	Brain Hippocampus Middle	brain
27	chr4:118321200-118321600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr4:118321200-118321600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr4:118321200-118321600	Enhancers	Brain Angular Gyrus	brain
30	chr4:118321200-118321600	Flanking Active TSS	NH-A	brain
31	chr4:118321200-118322200	Enhancers	Muscle Satellite Cultured Cells	--
32	chr4:118321400-118322400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr4:118321400-118322400	Weak transcription	Brain Hippocampus Middle	brain
34	chr4:118321400-118322800	Enhancers	HSMM	muscle
35	chr4:118321600-118321800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr4:118321600-118321800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr4:118321600-118322000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr4:118321600-118322200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr4:118321600-118322400	Enhancers	HUVEC	blood vessel
40	chr4:118321800-118322200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr4:118322000-118322400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr4:118322200-118322600	ZNF genes & repeats	Pancreas	Pancrea
43	chr4:118322200-118322800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr4:118322400-118322600	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr4:118322400-118322600	Enhancers	Brain Hippocampus Middle	brain

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