Variant report

Variant	nsv1003341
Chromosome Location	chr4:47607296-47651992
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	BATF	chr4:47619695-47619918	GM12878	blood:	n/a	n/a
2	BATF	chr4:47619700-47619940	GM12878	blood:	n/a	n/a
3	BHLHE40	chr4:47619741-47619877	GM12878	blood:	n/a	n/a
4	BHLHE40	chr4:47645077-47645310	K562	blood:	n/a	n/a
5	CEBPB	chr4:47642520-47642711	HepG2	liver:	n/a	chr4:47642585-47642596
6	CEBPB	chr4:47643095-47643275	IMR90	lung:	n/a	n/a
7	CEBPB	chr4:47649372-47649599	HepG2	liver:	n/a	chr4:47649465-47649476
8	CEBPB	chr4:47642473-47642650	K562	blood:	n/a	chr4:47642585-47642596
9	CTCF	chr4:47625652-47625831	Fibrobl	skin:	n/a	n/a
10	CTCF	chr4:47639670-47639707	Spleen_OC	spleen:	n/a	n/a
11	CTCF	chr4:47625648-47625844	Gliobla	brain:	n/a	n/a
12	CTCF	chr4:47625640-47625790	HA-sp	spinal cord:	n/a	n/a
13	CTCF	chr4:47625722-47625799	NHEK	skin:	n/a	n/a
14	CTCF	chr4:47625600-47625750	HCPEpiC	choroid plexus:	n/a	n/a
15	CTCF	chr4:47625722-47625804	Hela-S3	cervix:	n/a	n/a
16	CTCF	chr4:47625673-47625786	MCF-7	breast:	n/a	n/a
17	CTCF	chr4:47625700-47625850	HPAF	blood vessel:	n/a	n/a
18	CTCF	chr4:47625560-47625710	HCPEpiC	choroid plexus:	n/a	n/a
19	CTCF	chr4:47617822-47617889	GM10266	blood:	n/a	n/a
20	CTCF	chr4:47625666-47625800	MCF-7	breast:	n/a	n/a
21	CTCF	chr4:47625691-47625812	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr4:47625680-47625830	SK-N-SH_RA	brain:	n/a	n/a
23	CTCF	chr4:47625600-47625750	HBMEC	blood vessel:	n/a	n/a
24	CTCF	chr4:47625660-47625810	HBMEC	blood vessel:	n/a	n/a
25	CTCF	chr4:47625640-47625790	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr4:47625673-47625822	MCF-7	breast:	n/a	n/a
27	CTCF	chr4:47625640-47625790	AG04449	skin:	n/a	n/a
28	CTCF	chr4:47625634-47625809	MCF-7	breast:	n/a	n/a
29	CTCF	chr4:47625707-47625778	MCF-7	breast:	n/a	n/a
30	E2F6	chr4:47645823-47646321	H1-hESC	embryonic stem cell:	n/a	n/a
31	EBF1	chr4:47619557-47619749	GM12878	blood:	n/a	n/a
32	EBF1	chr4:47641710-47641798	GM12878	blood:	n/a	n/a
33	EP300	chr4:47614553-47615112	SK-N-SH_RA	brain:	n/a	chr4:47614816-47614825
34	EP300	chr4:47614255-47615278	SK-N-SH	brain:	n/a	chr4:47614816-47614825
35	EP300	chr4:47625975-47626296	SK-N-SH_RA	brain:	n/a	n/a
36	EP300	chr4:47614525-47615102	SK-N-SH_RA	brain:	n/a	chr4:47614816-47614825
37	EP300	chr4:47619702-47619980	GM12878	blood:	n/a	n/a
38	EP300	chr4:47643793-47644111	SK-N-SH_RA	brain:	n/a	n/a
39	EP300	chr4:47625823-47626461	SK-N-SH	brain:	n/a	n/a
40	EP300	chr4:47617385-47617936	SK-N-SH_RA	brain:	n/a	n/a
41	EP300	chr4:47643759-47644079	SK-N-SH_RA	brain:	n/a	n/a
42	EP300	chr4:47617405-47617753	SK-N-SH_RA	brain:	n/a	n/a
43	EP300	chr4:47614479-47615165	SK-N-SH	brain:	n/a	chr4:47614816-47614825
44	EP300	chr4:47619780-47619904	GM12878	blood:	n/a	n/a
45	EP300	chr4:47625983-47626303	SK-N-SH_RA	brain:	n/a	n/a
46	FOS	chr4:47614616-47614816	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr4:47617432-47617732	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr4:47614539-47614739	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr4:47617442-47617655	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr4:47643016-47643305	MCF10A-Er-Src	breast:	n/a	chr4:47643160-47643168 chr4:47643159-47643169 chr4:47643160-47643167

No.	Distal block	Cell Line	Cell type
1	chr4:47648571..47651518-chr4:47651849..47655335,3	K562	blood:
2	chr4:47648571..47651518-chr4:47651849..47655335,3	K562	blood:
3	chr4:47635495..47638462-chr4:47640474..47643094,3	K562	blood:
4	chr4:47635495..47638462-chr4:47640474..47643094,3	K562	blood:
5	chr12:29705422..29705972-chr4:47631907..47632427,2	K562	blood:
6	chr4:47648571..47650880-chr4:47653230..47655335,2	K562	blood:

Variant related genes	Relation type
CORIN	TF binding region

Extended variants
information (count: 1678 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1678 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10000636	chr4:47607296-47607297	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs541486556	chr4:47607370-47607371	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371588234	chr4:47607451-47607452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533317471	chr4:47607460-47607461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs6832640	chr4:47607505-47607506	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs530726072	chr4:47607535-47607536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531035147	chr4:47607561-47607562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs16860441	chr4:47607608-47607609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567811678	chr4:47607610-47607611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs61456945	chr4:47607649-47607650	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs546636863	chr4:47607656-47607657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145253413	chr4:47607685-47607686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369001524	chr4:47607695-47607696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557320791	chr4:47607770-47607771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs377382500	chr4:47607801-47607802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12502587	chr4:47607839-47607840	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs536517459	chr4:47607848-47607849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554827286	chr4:47607958-47607959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572945515	chr4:47607962-47607963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541175040	chr4:47608066-47608067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553421352	chr4:47608101-47608102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577994622	chr4:47608148-47608149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567368898	chr4:47608165-47608166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534292821	chr4:47608184-47608185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552914143	chr4:47608187-47608188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs13144815	chr4:47608240-47608241	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs563670702	chr4:47608257-47608258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531122790	chr4:47608261-47608262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs13150459	chr4:47608300-47608301	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs7667912	chr4:47608329-47608330	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs528677222	chr4:47608331-47608332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575386574	chr4:47608409-47608410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370931697	chr4:47608422-47608423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546428060	chr4:47608426-47608427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542823492	chr4:47608522-47608523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571299005	chr4:47608567-47608568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532179907	chr4:47608568-47608569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149543031	chr4:47608643-47608644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568843732	chr4:47608645-47608646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs55686721	chr4:47608648-47608649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs71612001	chr4:47608658-47608659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12651501	chr4:47608664-47608665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574389014	chr4:47608671-47608672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12651504	chr4:47608674-47608675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148868160	chr4:47608685-47608686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs61759673	chr4:47608687-47608688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12651505	chr4:47608688-47608689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs61759674	chr4:47608690-47608691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12651506	chr4:47608693-47608694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs397978891	chr4:47608694-47608695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	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
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Olfactory neuroblastoma	18408657	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	16616336	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Renal cell carcinoma	18765545	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Bipolar disorder	19214233	CNVD
Pancreatic cancer	17952125	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:180 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:47575000-47610200	Weak transcription	Fetal Brain Male	brain
2	chr4:47593400-47608200	Weak transcription	Esophagus	oesophagus
3	chr4:47593400-47614200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:47594200-47608000	Weak transcription	Brain Anterior Caudate	brain
5	chr4:47594200-47610200	Weak transcription	Ovary	ovary
6	chr4:47594200-47614400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr4:47594200-47614600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:47594400-47607400	Weak transcription	HSMMtube	muscle
9	chr4:47595800-47614400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:47598200-47614200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr4:47601800-47641000	Weak transcription	Fetal Heart	heart
12	chr4:47602400-47614600	Weak transcription	Aorta	Aorta
13	chr4:47605400-47607400	Strong transcription	Placenta	Placenta
14	chr4:47605600-47610400	Weak transcription	Right Ventricle	heart
15	chr4:47605600-47616200	Weak transcription	Left Ventricle	heart
16	chr4:47605600-47616400	Weak transcription	Brain Substantia Nigra	brain
17	chr4:47605600-47627000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr4:47605800-47614000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr4:47606200-47608400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr4:47606400-47608800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr4:47607200-47614400	Weak transcription	HSMM	muscle
22	chr4:47607200-47617200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr4:47607400-47630200	Weak transcription	Placenta	Placenta
24	chr4:47610200-47610400	Enhancers	Ovary	ovary
25	chr4:47610200-47610600	Enhancers	Fetal Brain Male	brain
26	chr4:47610400-47610600	Enhancers	Right Ventricle	heart
27	chr4:47610600-47613200	Weak transcription	Right Ventricle	heart
28	chr4:47613600-47613800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr4:47614000-47614600	Enhancers	Muscle Satellite Cultured Cells	--
30	chr4:47614000-47615200	Enhancers	Osteobl	bone
31	chr4:47614200-47614400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr4:47614200-47615000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr4:47614400-47614800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr4:47614400-47614800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr4:47614400-47614800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr4:47614400-47615200	Enhancers	HSMM	muscle
37	chr4:47614400-47615200	Enhancers	NH-A	brain
38	chr4:47614600-47614800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
39	chr4:47614600-47614800	ZNF genes & repeats	Aorta	Aorta
40	chr4:47614600-47615000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr4:47614600-47615200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr4:47614800-47615000	Enhancers	Muscle Satellite Cultured Cells	--
43	chr4:47614800-47617600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr4:47614800-47617600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr4:47614800-47625600	Weak transcription	Aorta	Aorta
46	chr4:47615000-47615200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
47	chr4:47615000-47617200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr4:47615200-47615400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr4:47615200-47615400	Enhancers	Muscle Satellite Cultured Cells	--
50	chr4:47615200-47617200	Weak transcription	Osteobl	bone

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