Variant report

Variant	esv3391765
Chromosome Location	chr12:12609789-12610324
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	chr12:12609667-12610019	IMR90	lung:	n/a	n/a
2	CEBPB	chr12:12609712-12609983	K562	blood:	n/a	n/a
3	CEBPB	chr12:12609717-12609982	HepG2	liver:	n/a	n/a
4	FOS	chr12:12609591-12609948	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr12:12609552-12610005	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr12:12609549-12609972	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr12:12609606-12609942	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr12:12609547-12609867	HUVEC	blood vessel:	n/a	n/a
9	GATA3	chr12:12609409-12609970	SK-N-SH	brain:	n/a	n/a
10	GATA3	chr12:12609434-12610029	SK-N-SH	brain:	n/a	chr12:12609969-12609976 chr12:12609966-12609976 chr12:12609969-12609976 chr12:12609962-12609983 chr12:12609969-12609976 chr12:12609965-12609981
11	MAFF	chr12:12609607-12609973	HepG2	liver:	n/a	n/a
12	MAFF	chr12:12609618-12609965	K562	blood:	n/a	n/a
13	MAFK	chr12:12609604-12609989	IMR90	lung:	n/a	chr12:12609785-12609800 chr12:12609790-12609801 chr12:12609785-12609801 chr12:12609790-12609801
14	MAFK	chr12:12609614-12609986	K562	blood:	n/a	chr12:12609785-12609800 chr12:12609790-12609801 chr12:12609785-12609801 chr12:12609790-12609801
15	MAFK	chr12:12609613-12609977	HepG2	liver:	n/a	chr12:12609785-12609800 chr12:12609790-12609801 chr12:12609785-12609801 chr12:12609790-12609801
16	MAFK	chr12:12609673-12609936	Hela-S3	cervix:	n/a	chr12:12609785-12609800 chr12:12609790-12609801 chr12:12609785-12609801 chr12:12609790-12609801
17	MAFK	chr12:12609738-12609829	H1-hESC	embryonic stem cell:	n/a	chr12:12609785-12609800 chr12:12609790-12609801 chr12:12609785-12609801 chr12:12609790-12609801
18	MAFK	chr12:12609606-12609976	HepG2	liver:	n/a	chr12:12609785-12609800 chr12:12609790-12609801 chr12:12609785-12609801 chr12:12609790-12609801
19	MYC	chr12:12609549-12609862	MCF10A-Er-Src	breast:	n/a	n/a
20	MYC	chr12:12609583-12609874	MCF10A-Er-Src	breast:	n/a	n/a
21	PBX3	chr12:12609565-12609943	SK-N-SH	brain:	n/a	n/a
22	POLR2A	chr12:12609698-12610105	MCF10A-Er-Src	breast:	n/a	n/a
23	RUNX3	chr12:12609496-12609929	GM12878	blood:	n/a	n/a
24	SIN3AK20	chr12:12609632-12609804	PFSK-1	brain:	n/a	n/a
25	STAT3	chr12:12609591-12610005	MCF10A-Er-Src	breast:	n/a	n/a
26	STAT3	chr12:12609612-12609949	MCF10A-Er-Src	breast:	n/a	n/a
27	STAT3	chr12:12609603-12609910	MCF10A-Er-Src	breast:	n/a	n/a
28	STAT3	chr12:12609674-12609836	MCF10A-Er-Src	breast:	n/a	n/a
29	TCF12	chr12:12609391-12610070	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:12509893..12512192-chr12:12607942..12610815,2	MCF-7	breast:
2	chr12:12609394..12612369-chr12:12615599..12621309,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271370	TF binding region
ENSG00000205791	chromatin interactions
ENSG00000165714	chromatin interactions

Extended variants
information (count: 23 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368221820	chr12:12609793-12609794	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs531051067	chr12:12609830-12609831	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs537278057	chr12:12609860-12609861	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs187121410	chr12:12609861-12609862	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs191932373	chr12:12609907-12609908	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs10505766	chr12:12609938-12609939	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs78037246	chr12:12609948-12609949	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs553698490	chr12:12609974-12609975	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs16908101	chr12:12609988-12609989	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs182956435	chr12:12609993-12609994	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs113943425	chr12:12610021-12610022	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs558111037	chr12:12610029-12610030	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs187627392	chr12:12610052-12610053	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs550451448	chr12:12610075-12610076	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs193226237	chr12:12610123-12610124	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs570204558	chr12:12610129-12610130	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs561873594	chr12:12610148-12610149	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs60363317	chr12:12610174-12610175	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs78710806	chr12:12610207-12610208	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs138804280	chr12:12610224-12610225	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs185568099	chr12:12610236-12610237	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs551639042	chr12:12610285-12610286	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs570063376	chr12:12610291-12610292	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	17690704	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
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	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
Cancer	20164919	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Prostate cancer	16573809	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12590600-12614600	Weak transcription	Primary B cells from cord blood	blood
2	chr12:12594400-12618200	Weak transcription	Primary B cells from peripheral blood	blood
3	chr12:12595200-12618600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:12596000-12620200	Weak transcription	HSMM	muscle
5	chr12:12596000-12629800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:12596200-12620600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:12596800-12618200	Weak transcription	Primary T cells from cord blood	blood
8	chr12:12596800-12618200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr12:12597000-12617800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr12:12597400-12618200	Weak transcription	Gastric	stomach
11	chr12:12597400-12629000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr12:12599000-12618600	Weak transcription	Left Ventricle	heart
13	chr12:12600600-12616800	Weak transcription	Fetal Stomach	stomach
14	chr12:12600800-12610200	Weak transcription	Brain Anterior Caudate	brain
15	chr12:12601000-12620200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr12:12602200-12610600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:12602600-12610600	Weak transcription	Brain Angular Gyrus	brain
18	chr12:12602800-12610000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr12:12603200-12618400	Weak transcription	Esophagus	oesophagus
20	chr12:12603400-12618600	Weak transcription	Pancreas	Pancrea
21	chr12:12603800-12614200	Weak transcription	Aorta	Aorta
22	chr12:12603800-12639200	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr12:12604000-12628600	Weak transcription	Fetal Lung	lung
24	chr12:12604600-12609800	Weak transcription	Hela-S3	cervix
25	chr12:12604600-12613600	Weak transcription	Fetal Intestine Small	intestine
26	chr12:12604600-12618600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr12:12605200-12618400	Weak transcription	Liver	Liver
28	chr12:12605600-12610400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr12:12607800-12629400	Weak transcription	Fetal Kidney	kidney
30	chr12:12608400-12609800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr12:12608400-12627200	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr12:12608400-12629600	Weak transcription	Colon Smooth Muscle	Colon
33	chr12:12609000-12609800	Weak transcription	Adipose Nuclei	Adipose
34	chr12:12609000-12611000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:12609000-12611200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr12:12609000-12611400	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr12:12609000-12623400	Weak transcription	A549	lung
38	chr12:12609200-12609800	Active TSS	Monocytes-CD14+_RO01746	blood
39	chr12:12609200-12610000	Enhancers	GM12878-XiMat	blood
40	chr12:12609200-12610200	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr12:12609200-12610200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
42	chr12:12609200-12610200	Enhancers	HUVEC	blood vessel
43	chr12:12609200-12610400	Enhancers	Fetal Intestine Large	intestine
44	chr12:12609200-12610600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
45	chr12:12609200-12610800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr12:12609200-12611000	Enhancers	NH-A	brain
47	chr12:12609200-12611200	Enhancers	Brain Hippocampus Middle	brain
48	chr12:12609200-12611400	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr12:12609200-12626800	Weak transcription	Fetal Muscle Trunk	muscle
50	chr12:12609400-12609800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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