Variant report

Variant	esv3362685
Chromosome Location	chr12:4770868-4776681
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	chr12:4773088-4773690	IMR90	lung:	n/a	n/a
2	CEBPB	chr12:4773158-4773612	Hela-S3	cervix:	n/a	n/a
3	E2F4	chr12:4773440-4773640	MCF10A-Er-Src	breast:	n/a	n/a
4	ELK1	chr12:4771036-4771111	Hela-S3	cervix:	n/a	n/a
5	EP300	chr12:4773317-4773567	Hela-S3	cervix:	n/a	n/a
6	EP300	chr12:4773119-4773775	SK-N-SH	brain:	n/a	n/a
7	FOS	chr12:4773270-4773608	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr12:4773341-4773586	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr12:4773291-4773586	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr12:4773280-4773575	MCF10A-Er-Src	breast:	n/a	n/a
11	FOSL2	chr12:4773225-4773685	SK-N-SH	brain:	n/a	n/a
12	GATA2	chr12:4773272-4773640	HUVEC	blood vessel:	n/a	n/a
13	GATA3	chr12:4773238-4773606	MCF-7	breast:	n/a	n/a
14	GATA3	chr12:4773031-4773818	SK-N-SH	brain:	n/a	n/a
15	GATA3	chr12:4773022-4773891	SK-N-SH	brain:	n/a	n/a
16	JUND	chr12:4773145-4773784	SK-N-SH	brain:	n/a	n/a
17	JUND	chr12:4773123-4773713	SK-N-SH	brain:	n/a	n/a
18	JUND	chr12:4773323-4773523	K562	blood:	n/a	n/a
19	MAFK	chr12:4773331-4773599	Hela-S3	cervix:	n/a	n/a
20	MYC	chr12:4773371-4773577	MCF10A-Er-Src	breast:	n/a	n/a
21	NFIC	chr12:4773317-4773697	SK-N-SH	brain:	n/a	n/a
22	NFIC	chr12:4773206-4773820	SK-N-SH	brain:	n/a	n/a
23	PBX3	chr12:4773238-4773805	SK-N-SH	brain:	n/a	n/a
24	PBX3	chr12:4773291-4773797	SK-N-SH	brain:	n/a	n/a
25	POLR2A	chr12:4773575-4773583	K562	blood:	n/a	n/a
26	POLR2A	chr12:4773491-4773690	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr12:4775835-4775956	HUVEC	blood vessel:	n/a	n/a
28	SPI1	chr12:4773090-4773445	HL-60	blood:	n/a	n/a
29	STAT3	chr12:4773357-4773503	MCF10A-Er-Src	breast:	n/a	n/a
30	STAT3	chr12:4773261-4773426	MCF10A-Er-Src	breast:	n/a	n/a
31	STAT3	chr12:4773327-4773491	MCF10A-Er-Src	breast:	n/a	n/a
32	TCF12	chr12:4773165-4773717	SK-N-SH	brain:	n/a	n/a
33	TCF12	chr12:4773174-4773867	SK-N-SH	brain:	n/a	chr12:4773837-4773847

Variant related genes	Relation type
ENSG00000255639	TF binding region

Extended variants
information (count: 226 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:226 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375572819	chr12:4770874-4770875	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542902129	chr12:4770875-4770876	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189812174	chr12:4770877-4770878	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181864424	chr12:4770969-4770970	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185789541	chr12:4770973-4770974	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544693223	chr12:4771002-4771003	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375904025	chr12:4771019-4771020	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370338188	chr12:4771032-4771033	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114204798	chr12:4771041-4771042	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527681165	chr12:4771075-4771076	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546832137	chr12:4771076-4771077	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560227834	chr12:4771077-4771078	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79464158	chr12:4771099-4771100	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142824917	chr12:4771118-4771119	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs377767098	chr12:4771178-4771179	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73261238	chr12:4771182-4771183	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537913032	chr12:4771191-4771192	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551505823	chr12:4771231-4771232	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568622247	chr12:4771236-4771237	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571225200	chr12:4771272-4771273	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533813956	chr12:4771314-4771315	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189419501	chr12:4771335-4771336	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371235846	chr12:4771371-4771372	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574277152	chr12:4771386-4771387	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536835405	chr12:4771389-4771390	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10849115	chr12:4771431-4771432	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs576248256	chr12:4771432-4771433	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545052800	chr12:4771454-4771455	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2267548	chr12:4771456-4771457	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs562836685	chr12:4771495-4771496	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566828763	chr12:4771601-4771602	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181781262	chr12:4771632-4771633	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2302245	chr12:4771645-4771646	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370125773	chr12:4771650-4771651	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372645808	chr12:4771668-4771669	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2267549	chr12:4771682-4771683	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs150765610	chr12:4771690-4771691	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs75878894	chr12:4771705-4771706	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199935545	chr12:4771717-4771718	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143710385	chr12:4771724-4771725	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138434279	chr12:4771734-4771735	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201865179	chr12:4771747-4771748	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138112681	chr12:4771758-4771759	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185126760	chr12:4771776-4771777	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200660398	chr12:4771785-4771786	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201326871	chr12:4771805-4771806	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs149534005	chr12:4771818-4771819	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs201029973	chr12:4771835-4771836	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs536515528	chr12:4771868-4771869	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs569362628	chr12:4771903-4771904	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Ovarian cancer	20844748	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	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
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Epilepsy	21858020	CNVD
Colorectal cancer	19359472	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:315 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4759000-4772600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:4759000-4799400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:4759200-4776200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:4760800-4782400	Strong transcription	Primary T cells from cord blood	blood
5	chr12:4761800-4782200	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr12:4762200-4779800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:4762200-4783600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:4762600-4773000	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr12:4762600-4773400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:4762600-4779600	Strong transcription	Primary hematopoietic stem cells	blood
11	chr12:4762600-4780000	Strong transcription	Fetal Muscle Leg	muscle
12	chr12:4762600-4782800	Strong transcription	Adipose Nuclei	Adipose
13	chr12:4762800-4779800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr12:4762800-4781000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:4762800-4782000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr12:4763000-4774800	Strong transcription	Skeletal Muscle Male	skeletal muscle
17	chr12:4763000-4775600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:4763000-4780400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr12:4763000-4782200	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr12:4763000-4782400	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr12:4763000-4782400	Strong transcription	Placenta	Placenta
22	chr12:4763000-4783000	Strong transcription	Duodenum Mucosa	Duodenum
23	chr12:4763200-4772600	Strong transcription	HSMM	muscle
24	chr12:4763200-4772600	Strong transcription	Osteobl	bone
25	chr12:4763200-4773600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:4763200-4782200	Strong transcription	Primary B cells from peripheral blood	blood
27	chr12:4763400-4771200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr12:4763400-4771200	Strong transcription	Fetal Stomach	stomach
29	chr12:4763400-4771400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr12:4763400-4771400	Strong transcription	Spleen	Spleen
31	chr12:4763400-4771400	Strong transcription	NHEK	skin
32	chr12:4763400-4771600	Strong transcription	Ovary	ovary
33	chr12:4763400-4771600	Strong transcription	Thymus	Thymus
34	chr12:4763400-4771800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr12:4763400-4771800	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr12:4763400-4772400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:4763400-4772600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr12:4763400-4772600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr12:4763400-4772600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr12:4763400-4772600	Strong transcription	HSMMtube	muscle
41	chr12:4763400-4773200	Strong transcription	Right Ventricle	heart
42	chr12:4763400-4773600	Strong transcription	HMEC	breast
43	chr12:4763400-4774000	Strong transcription	HUVEC	blood vessel
44	chr12:4763400-4774200	Strong transcription	Rectal Smooth Muscle	rectum
45	chr12:4763400-4774600	Strong transcription	HepG2	liver
46	chr12:4763400-4774800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
47	chr12:4763400-4774800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr12:4763400-4774800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr12:4763400-4774800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr12:4763400-4775200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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