Variant report

Variant	nsv10558
Chromosome Location	chr4:119234576-119243935
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	chr4:119243563-119243747	IMR90	lung:	n/a	n/a
2	CEBPB	chr4:119240147-119240413	IMR90	lung:	n/a	n/a
3	CEBPB	chr4:119240143-119240475	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr4:119243564-119243748	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr4:119240270-119240292	NHEK	skin:	n/a	n/a
6	CTCF	chr4:119240259-119240298	MCF-7	breast:	n/a	n/a
7	CTCF	chr4:119240239-119240333	A549	lung:	n/a	n/a
8	CTCF	chr4:119239006-119239029	Lung_OC	lung:	n/a	n/a
9	EP300	chr4:119240169-119240326	Hela-S3	cervix:	n/a	n/a
10	EP300	chr4:119243832-119243903	GM12878	blood:	n/a	n/a
11	FOS	chr4:119240100-119240405	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr4:119240100-119240380	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr4:119240186-119240365	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr4:119240098-119240426	MCF10A-Er-Src	breast:	n/a	n/a
15	GATA3	chr4:119243856-119244945	SK-N-SH	brain:	n/a	chr4:119244565-119244581
16	JUN	chr4:119239386-119239493	K562	blood:	n/a	n/a
17	JUN	chr4:119234403-119234664	HepG2	liver:	n/a	chr4:119234483-119234496
18	JUND	chr4:119234315-119234669	HepG2	liver:	n/a	n/a
19	MAFF	chr4:119235426-119235742	HepG2	liver:	n/a	chr4:119235569-119235583 chr4:119235563-119235581
20	MAFF	chr4:119235476-119235727	K562	blood:	n/a	chr4:119235569-119235583 chr4:119235563-119235581
21	MAFK	chr4:119235469-119235737	K562	blood:	n/a	chr4:119235566-119235577 chr4:119235564-119235578 chr4:119235565-119235576 chr4:119235569-119235583 chr4:119235565-119235576 chr4:119235566-119235586 chr4:119235565-119235580 chr4:119235568-119235584 chr4:119235565-119235581
22	MAFK	chr4:119235493-119235727	Hela-S3	cervix:	n/a	chr4:119235566-119235577 chr4:119235564-119235578 chr4:119235565-119235576 chr4:119235569-119235583 chr4:119235565-119235576 chr4:119235566-119235586 chr4:119235565-119235580 chr4:119235568-119235584 chr4:119235565-119235581
23	MAFK	chr4:119238902-119239099	HepG2	liver:	n/a	chr4:119238942-119238952 chr4:119238942-119238951
24	MAFK	chr4:119235432-119235762	IMR90	lung:	n/a	chr4:119235566-119235577 chr4:119235564-119235578 chr4:119235565-119235576 chr4:119235569-119235583 chr4:119235565-119235576 chr4:119235566-119235586 chr4:119235565-119235580 chr4:119235568-119235584 chr4:119235565-119235581
25	MAFK	chr4:119235397-119235753	HepG2	liver:	n/a	chr4:119235566-119235577 chr4:119235564-119235578 chr4:119235565-119235576 chr4:119235569-119235583 chr4:119235565-119235576 chr4:119235566-119235586 chr4:119235565-119235580 chr4:119235568-119235584 chr4:119235565-119235581
26	MAFK	chr4:119238869-119238998	HepG2	liver:	n/a	chr4:119238942-119238952 chr4:119238942-119238951
27	MAFK	chr4:119235421-119235745	HepG2	liver:	n/a	chr4:119235566-119235577 chr4:119235564-119235578 chr4:119235565-119235576 chr4:119235569-119235583 chr4:119235565-119235576 chr4:119235566-119235586 chr4:119235565-119235580 chr4:119235568-119235584 chr4:119235565-119235581
28	MAX	chr4:119240251-119240290	Hela-S3	cervix:	n/a	n/a
29	MYC	chr4:119240161-119240359	MCF10A-Er-Src	breast:	n/a	n/a
30	NFIC	chr4:119243874-119244884	SK-N-SH	brain:	n/a	n/a
31	POLR2A	chr4:119235777-119235796	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr4:119238896-119239235	H1-neurons	neurons:	n/a	n/a
33	POLR2A	chr4:119238919-119239251	H1-neurons	neurons:	n/a	n/a
34	STAT3	chr4:119234732-119235038	MCF10A-Er-Src	breast:	n/a	chr4:119234855-119234863 chr4:119234996-119235004
35	STAT3	chr4:119242661-119242891	MCF10A-Er-Src	breast:	n/a	n/a
36	STAT3	chr4:119237387-119237424	MCF10A-Er-Src	breast:	n/a	n/a
37	STAT3	chr4:119240282-119240356	MCF10A-Er-Src	breast:	n/a	n/a
38	STAT3	chr4:119240145-119240362	MCF10A-Er-Src	breast:	n/a	n/a
39	TCF12	chr4:119243908-119244875	SK-N-SH	brain:	n/a	n/a
40	TCF12	chr4:119243868-119244897	SK-N-SH	brain:	n/a	n/a
41	USF2	chr4:119239087-119239099	H1-hESC	embryonic stem cell:	n/a	n/a
42	ZC3H11A	chr4:119235777-119235919	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:119203107..119204867-chr4:119240756..119242406,2	K562	blood:
2	chr4:119201888..119204212-chr4:119242827..119245700,4	K562	blood:
3	chr4:119205014..119207897-chr4:119243255..119244938,2	K562	blood:
4	chr4:119203588..119205847-chr4:119243222..119244861,2	MCF-7	breast:
5	chr4:119201888..119204212-chr4:119242827..119245536,2	K562	blood:
6	chr4:119182793..119185295-chr4:119235420..119237029,2	K562	blood:
7	chr4:119202026..119204755-chr4:119234845..119237518,2	K562	blood:
8	chr4:119200254..119204125-chr4:119236185..119238906,3	MCF-7	breast:
9	chr4:119199610..119201331-chr4:119243734..119245507,2	K562	blood:
10	chr4:119238222..119241031-chr4:119243749..119246100,2	MCF-7	breast:
11	chr4:119199845..119203643-chr4:119232853..119237501,6	K562	blood:

Variant related genes	Relation type
PRSS12	TF binding region
ENSG00000164099	chromatin interactions
ENSG00000269893	chromatin interactions

Extended variants
information (count: 326 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:326 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557482935	chr4:119234636-119234637	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs192149220	chr4:119234684-119234685	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs184638784	chr4:119234693-119234694	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs199673238	chr4:119234696-119234697	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs34174203	chr4:119234699-119234700	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs558275181	chr4:119234711-119234712	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs571683783	chr4:119234724-119234725	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs534352511	chr4:119234751-119234752	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs17642201	chr4:119234869-119234870	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs370884964	chr4:119234874-119234875	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs551310826	chr4:119234934-119234935	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs574649834	chr4:119234957-119234958	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs189427979	chr4:119234972-119234973	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs80305915	chr4:119235030-119235031	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs79889017	chr4:119235053-119235054	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs546317426	chr4:119235156-119235157	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs539727981	chr4:119235164-119235165	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs72921339	chr4:119235165-119235166	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs13112236	chr4:119235207-119235208	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs528611159	chr4:119235243-119235244	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs201585749	chr4:119235292-119235293	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs75159887	chr4:119235321-119235322	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs368495778	chr4:119235341-119235342	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs180822279	chr4:119235378-119235379	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs184508913	chr4:119235387-119235388	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs199634943	chr4:119235465-119235466	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs561516613	chr4:119235488-119235489	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs189491384	chr4:119235520-119235521	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs139121402	chr4:119235541-119235542	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs788650	chr4:119235584-119235585	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs551841802	chr4:119235674-119235675	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs565405516	chr4:119235810-119235811	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs28634343	chr4:119235843-119235844	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs34399419	chr4:119235845-119235846	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs371256407	chr4:119235885-119235886	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs200042299	chr4:119235970-119235971	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs569581241	chr4:119235983-119235984	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs377657888	chr4:119236074-119236075	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs574359314	chr4:119236095-119236096	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs537343147	chr4:119236138-119236139	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs557021209	chr4:119236187-119236188	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs7697292	chr4:119236253-119236254	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs181100466	chr4:119236291-119236292	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs77431768	chr4:119236318-119236319	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs186620606	chr4:119236336-119236337	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs76098011	chr4:119236337-119236338	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs788651	chr4:119236342-119236343	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs530854361	chr4:119236362-119236363	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs551231624	chr4:119236453-119236454	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs532441133	chr4:119236456-119236457	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119202800-119267200	Weak transcription	Stomach Mucosa	stomach
2	chr4:119209600-119258600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr4:119210000-119259200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:119210200-119258600	Weak transcription	HMEC	breast
5	chr4:119212600-119259200	Weak transcription	NHEK	skin
6	chr4:119213000-119240600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr4:119216400-119249800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr4:119216600-119244000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr4:119217400-119243400	Weak transcription	Fetal Lung	lung
10	chr4:119220200-119240200	Weak transcription	Osteobl	bone
11	chr4:119220200-119260000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr4:119227400-119236000	Weak transcription	Pancreas	Pancrea
13	chr4:119229000-119267200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr4:119229200-119235600	Weak transcription	Gastric	stomach
15	chr4:119230800-119236800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:119230800-119239000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr4:119233000-119234800	Enhancers	Fetal Brain Male	brain
18	chr4:119233000-119246600	Weak transcription	Fetal Stomach	stomach
19	chr4:119233400-119234600	Strong transcription	NHDF-Ad	bronchial
20	chr4:119234200-119234600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr4:119234200-119234800	Strong transcription	NHLF	lung
22	chr4:119234200-119235000	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr4:119234400-119234600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr4:119234400-119234800	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr4:119234600-119234800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr4:119234600-119239400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr4:119234600-119243800	Weak transcription	NHDF-Ad	bronchial
28	chr4:119234800-119235600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr4:119234800-119239000	Weak transcription	NHLF	lung
30	chr4:119234800-119239400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr4:119234800-119239400	Weak transcription	Fetal Brain Male	brain
32	chr4:119235600-119235800	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr4:119236400-119237600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr4:119236800-119237200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr4:119236800-119237600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:119237600-119250800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr4:119239000-119240600	Strong transcription	NHLF	lung
38	chr4:119239000-119242200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr4:119239400-119239800	Enhancers	Fetal Brain Male	brain
40	chr4:119239400-119240200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr4:119239400-119242200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr4:119239800-119259200	Weak transcription	Fetal Brain Male	brain
43	chr4:119240000-119240400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr4:119240200-119240600	Enhancers	Osteobl	bone
45	chr4:119240200-119241000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr4:119240400-119244400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr4:119240600-119240800	Genic enhancers	NHLF	lung
48	chr4:119240600-119241200	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr4:119240600-119243800	Weak transcription	Osteobl	bone
50	chr4:119240800-119246600	Weak transcription	NHLF	lung

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