Variant report

Variant	nsv976631
Chromosome Location	chr12:59446862-59449482
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	chr12:59449276-59449566	GM12878	blood:	n/a	chr12:59449406-59449417
2	BATF	chr12:59449304-59449598	GM12878	blood:	n/a	chr12:59449406-59449417
3	CBX3	chr12:59449051-59449681	HCT-116	colon:	n/a	n/a
4	CEBPB	chr12:59449096-59449787	HCT-116	colon:	n/a	chr12:59449548-59449561 chr12:59449711-59449724
5	CEBPB	chr12:59449154-59449707	Hela-S3	cervix:	n/a	chr12:59449548-59449561
6	CEBPB	chr12:59449316-59449698	IMR90	lung:	n/a	chr12:59449548-59449561
7	CEBPB	chr12:59449357-59449678	A549	lung:	n/a	chr12:59449548-59449561
8	CEBPB	chr12:59449130-59449771	HCT-116	colon:	n/a	chr12:59449548-59449561 chr12:59449711-59449724
9	E2F4	chr12:59449138-59449600	MCF10A-Er-Src	breast:	n/a	n/a
10	EP300	chr12:59449197-59449746	SK-N-SH	brain:	n/a	n/a
11	EP300	chr12:59449298-59449539	GM12878	blood:	n/a	n/a
12	EP300	chr12:59449231-59449502	SK-N-SH_RA	brain:	n/a	n/a
13	EP300	chr12:59449124-59449619	Hela-S3	cervix:	n/a	n/a
14	FOS	chr12:59449134-59449639	HUVEC	blood vessel:	n/a	chr12:59449389-59449400
15	FOS	chr12:59447184-59447384	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr12:59449141-59449656	MCF10A-Er-Src	breast:	n/a	chr12:59449389-59449400
17	FOS	chr12:59448987-59449684	MCF10A-Er-Src	breast:	n/a	chr12:59449389-59449400
18	FOS	chr12:59449100-59449730	MCF10A-Er-Src	breast:	n/a	chr12:59449389-59449400
19	FOS	chr12:59449109-59449674	MCF10A-Er-Src	breast:	n/a	chr12:59449389-59449400
20	FOS	chr12:59449224-59449575	Hela-S3	cervix:	n/a	chr12:59449389-59449400
21	FOS	chr12:59447307-59447329	MCF10A-Er-Src	breast:	n/a	n/a
22	FOSL1	chr12:59449007-59449669	HCT-116	colon:	n/a	n/a
23	FOSL1	chr12:59448986-59449845	HCT-116	colon:	n/a	chr12:59449766-59449775
24	FOSL2	chr12:59448952-59449653	A549	lung:	n/a	n/a
25	FOSL2	chr12:59449172-59449522	SK-N-SH	brain:	n/a	n/a
26	FOSL2	chr12:59449212-59449509	A549	lung:	n/a	n/a
27	FOSL2	chr12:59449131-59449562	MCF-7	breast:	n/a	n/a
28	FOSL2	chr12:59449100-59449704	SK-N-SH	brain:	n/a	n/a
29	GATA3	chr12:59449040-59449586	SK-N-SH	brain:	n/a	n/a
30	GATA3	chr12:59448994-59449689	SK-N-SH	brain:	n/a	n/a
31	JUN	chr12:59449162-59449620	HUVEC	blood vessel:	n/a	n/a
32	JUN	chr12:59449071-59449631	Hela-S3	cervix:	n/a	n/a
33	JUND	chr12:59449112-59449671	SK-N-SH	brain:	n/a	n/a
34	JUND	chr12:59449058-59449776	HCT-116	colon:	n/a	chr12:59449766-59449775
35	JUND	chr12:59449144-59449653	HCT-116	colon:	n/a	n/a
36	JUND	chr12:59449106-59449624	Hela-S3	cervix:	n/a	n/a
37	JUND	chr12:59449079-59449683	SK-N-SH	brain:	n/a	n/a
38	JUND	chr12:59449107-59449656	SK-N-SH	brain:	n/a	n/a
39	MYC	chr12:59449135-59449652	MCF10A-Er-Src	breast:	n/a	n/a
40	MYC	chr12:59449209-59449676	MCF10A-Er-Src	breast:	n/a	n/a
41	MYC	chr12:59447229-59447253	MCF-7	breast:	n/a	n/a
42	MYC	chr12:59447113-59447493	MCF10A-Er-Src	breast:	n/a	n/a
43	PBX3	chr12:59449148-59449671	SK-N-SH	brain:	n/a	n/a
44	POLR2A	chr12:59447231-59447494	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr12:59449192-59449557	HCT-116	colon:	n/a	n/a
46	POLR2A	chr12:59449184-59449574	SK-N-SH	brain:	n/a	n/a
47	POLR2A	chr12:59448572-59449918	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr12:59448866-59449729	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr12:59449321-59449553	Hela-S3	cervix:	n/a	n/a
50	PRDM1	chr12:59449215-59449553	Hela-S3	cervix:	n/a	chr12:59449354-59449369

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:59312784..59314392-chr12:59448916..59450725,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257288	TF binding region
ENSG00000139263	chromatin interactions

Extended variants
information (count: 110 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375439916	chr12:59446877-59446878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183461669	chr12:59446919-59446920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs77566343	chr12:59446973-59446974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs561313665	chr12:59446986-59446987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs12423714	chr12:59447035-59447036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs622827	chr12:59447062-59447063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549772455	chr12:59447066-59447067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571539518	chr12:59447102-59447103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532160208	chr12:59447116-59447117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188863572	chr12:59447193-59447194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565424222	chr12:59447212-59447213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535987113	chr12:59447243-59447244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573611607	chr12:59447244-59447245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs370618420	chr12:59447291-59447292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs192583194	chr12:59447292-59447293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs145727860	chr12:59447310-59447311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542545020	chr12:59447318-59447319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs619110	chr12:59447327-59447328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs80240969	chr12:59447334-59447335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs182143875	chr12:59447357-59447358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs149151118	chr12:59447473-59447474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs545233557	chr12:59447511-59447512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143216186	chr12:59447550-59447551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs572569818	chr12:59447569-59447570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543173398	chr12:59447586-59447587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs148064444	chr12:59447588-59447589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531709055	chr12:59447602-59447603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs543802392	chr12:59447603-59447604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs141771900	chr12:59447628-59447629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532475170	chr12:59447637-59447638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs150582474	chr12:59447671-59447672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559147918	chr12:59447672-59447673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576199914	chr12:59447689-59447690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs545445153	chr12:59447691-59447692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs529724370	chr12:59447724-59447725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs186924013	chr12:59447726-59447727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs569436429	chr12:59447748-59447749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs115263474	chr12:59447762-59447763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552162216	chr12:59447793-59447794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs1867411	chr12:59447794-59447795	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs191771713	chr12:59447809-59447810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs554052094	chr12:59447824-59447825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs142799477	chr12:59447863-59447864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs371118706	chr12:59447961-59447962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs536858054	chr12:59447983-59447984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs147390359	chr12:59447988-59447989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs576619336	chr12:59447989-59447990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs139513254	chr12:59448023-59448024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs565323996	chr12:59448027-59448028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577039359	chr12:59448034-59448035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59441000-59450800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:59446400-59451000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:59446400-59451200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:59446800-59449200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr12:59446800-59449200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:59446800-59450000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:59446800-59450200	Enhancers	HMEC	breast
8	chr12:59446800-59450200	Enhancers	NHEK	skin
9	chr12:59447200-59447400	Enhancers	Brain Substantia Nigra	brain
10	chr12:59447200-59447600	Enhancers	Fetal Muscle Leg	muscle
11	chr12:59447600-59448200	Enhancers	Fetal Stomach	stomach
12	chr12:59448000-59450000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:59448200-59448400	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr12:59448200-59449000	Enhancers	Esophagus	oesophagus
15	chr12:59448200-59452600	Weak transcription	Fetal Stomach	stomach
16	chr12:59448400-59450000	Enhancers	Hela-S3	cervix
17	chr12:59448400-59453600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr12:59448600-59448800	Enhancers	Aorta	Aorta
19	chr12:59448600-59449000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:59448600-59449000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr12:59448600-59449000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr12:59448600-59449200	Enhancers	Stomach Mucosa	stomach
23	chr12:59448600-59449600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr12:59448600-59450000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr12:59448600-59450000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:59448600-59450000	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr12:59448600-59451200	Enhancers	HUVEC	blood vessel
28	chr12:59448800-59449200	Enhancers	A549	lung
29	chr12:59448800-59449800	Enhancers	Osteobl	bone
30	chr12:59448800-59450000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr12:59448800-59450000	Enhancers	Placenta Amnion	Placenta Amnion
32	chr12:59448800-59450000	Enhancers	HSMMtube	muscle
33	chr12:59448800-59450000	Enhancers	NH-A	brain
34	chr12:59449000-59449600	Enhancers	HSMM	muscle
35	chr12:59449000-59449800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr12:59449000-59450000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr12:59449000-59450000	Enhancers	NHDF-Ad	bronchial
38	chr12:59449000-59459800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr12:59449200-59449400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:59449200-59449600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:59449200-59449600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr12:59449200-59449600	Enhancers	Fetal Intestine Large	intestine
43	chr12:59449200-59449800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr12:59449200-59449800	Weak transcription	Stomach Mucosa	stomach
45	chr12:59449200-59449800	Flanking Active TSS	A549	lung
46	chr12:59449200-59450000	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr12:59449400-59450200	Enhancers	NHLF	lung

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