Variant report

Variant	esv3387486
Chromosome Location	chr12:11035980-11036746
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:11036163-11036205	Medullo	brain:	n/a	n/a
2	POLR2A	chr12:11036735-11036943	H1-hESC	embryonic stem cell:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:11036074-11036124	MCF10A-Er-Src	breast:	n/a
2	chr12:11036217-11036267	SK-N-SH_RA	brain:	n/a
3	chr12:11036217-11036267	K562	blood:	n/a
4	chr12:11036074-11036124	IMR90	lung:	fetal
5	chr12:11036074-11036124	HRE	kidney:	n/a
6	chr12:11036074-11036124	SKMC	muscle:	n/a
7	chr12:11036074-11036124	HCM	heart:	n/a
8	chr12:11036074-11036124	HAEpiC	amniotic membrane:	n/a
9	chr12:11036217-11036267	HepG2	liver:	n/a
10	chr12:11036217-11036267	HPAEpiC	pulmonary alveolar:	n/a
11	chr12:11036217-11036267	Caco-2	colon:	n/a
12	chr12:11036217-11036267	A549	lung:	n/a
13	chr12:11036217-11036267	HRE	kidney:	n/a
14	chr12:11036074-11036124	AoSMC	blood vessel:	n/a
15	chr12:11036217-11036267	NH-A	brain:	n/a
16	chr12:11036074-11036124	SK-N-SH	brain:	n/a
17	chr12:11036074-11036124	HNPCEpiC	eye:	n/a
18	chr12:11036074-11036124	SK-N-MC	brain:	n/a
19	chr12:11036217-11036267	PFSK-1	brain:	n/a
20	chr12:11036074-11036124	AG09319	gingival:	n/a
21	chr12:11036217-11036267	HCT-116	colon:	n/a
22	chr12:11036074-11036124	AG04450	lung:	fetal
23	chr12:11036217-11036267	RPTEC	kidney:	n/a
24	chr12:11036217-11036267	U87	brain:	n/a
25	chr12:11036074-11036124	HL-60	blood:	n/a
26	chr12:11036074-11036124	ECC-1	luminal epithelium:	n/a
27	chr12:11036074-11036124	SK-N-SH_RA	brain:	n/a
28	chr12:11036074-11036124	U87	brain:	n/a
29	chr12:11036217-11036267	GM06990	blood:	n/a
30	chr12:11036217-11036267	AG04449	skin:	fetal
31	chr12:11036217-11036267	SK-N-SH	brain:	n/a
32	chr12:11036217-11036267	NHBE	bronchial:	n/a
33	chr12:11036217-11036267	LNCaP	prostate:	n/a
34	chr12:11036074-11036124	Hepatocyte	liver:	n/a
35	chr12:11036074-11036124	HRPEpiC	eye:	n/a
36	chr12:11036074-11036124	BJ	skin:	n/a
37	chr12:11036217-11036267	HNPCEpiC	eye:	n/a
38	chr12:11036217-11036267	AG10803	skin:	n/a
39	chr12:11036074-11036124	GM12892	blood:	n/a
40	chr12:11036074-11036124	ovcar-3	ovarian:	n/a
41	chr12:11036074-11036124	NH-A	brain:	n/a
42	chr12:11036217-11036267	NT2-D1	testis:	n/a
43	chr12:11036217-11036267	HRPEpiC	eye:	n/a
44	chr12:11036074-11036124	GM12891	blood:	n/a
45	chr12:11036074-11036124	Hela-S3	cervix:	n/a
46	chr12:11036074-11036124	PFSK-1	brain:	n/a
47	chr12:11036217-11036267	AG09319	gingival:	n/a
48	chr12:11036074-11036124	HIPEpiC	eye:	n/a
49	chr12:11036217-11036267	HCF	heart:	n/a
50	chr12:11036217-11036267	HEK293	kidney:	embryo

No data

Variant related genes	Relation type
PRR4	TF binding region
PRR4	CpG island

Extended variants
information (count: 32 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10492098	chr12:11035983-11035984	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs61914783	chr12:11036008-11036009	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs11054062	chr12:11036041-11036042	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs535939620	chr12:11036044-11036045	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs532961141	chr12:11036050-11036051	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs143492794	chr12:11036074-11036075	Weak transcription Strong transcription ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs543078613	chr12:11036086-11036087	Weak transcription Strong transcription ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
8	rs560004800	chr12:11036143-11036144	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs528861134	chr12:11036190-11036191	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs548752928	chr12:11036205-11036206	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs568730632	chr12:11036245-11036246	Weak transcription Strong transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
12	rs371693937	chr12:11036267-11036268	Weak transcription Strong transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
13	rs537703072	chr12:11036273-11036274	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs17743092	chr12:11036278-11036279	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs571028906	chr12:11036301-11036302	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs373332554	chr12:11036313-11036314	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540055046	chr12:11036372-11036373	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs147169232	chr12:11036403-11036404	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573284075	chr12:11036440-11036441	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375980604	chr12:11036479-11036480	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs113224209	chr12:11036498-11036499	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555519118	chr12:11036515-11036516	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs17743104	chr12:11036532-11036533	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs544051577	chr12:11036541-11036542	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140443609	chr12:11036568-11036569	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs76845404	chr12:11036569-11036570	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577020639	chr12:11036664-11036665	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540067283	chr12:11036675-11036676	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs560192296	chr12:11036694-11036695	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs372016966	chr12:11036695-11036696	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529023310	chr12:11036737-11036738	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs369059664	chr12:11036742-11036743	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
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
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
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Squamous cell cancer	19607727	CNVD
Prostate cancer	16573809	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	20877625	CNVD
Ovarian cancer	21781307	CNVD
Acute myeloid leukemia	17237825	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Breast cancer	22522925	CNVD
Acute myeloid leukemia	20729466	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11007000-11038800	Weak transcription	Psoas Muscle	Psoas
2	chr12:11007200-11039400	Weak transcription	Right Ventricle	heart
3	chr12:11009200-11045800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr12:11012200-11051800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:11012200-11055800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr12:11012200-11056200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr12:11014400-11043400	Weak transcription	Fetal Intestine Small	intestine
8	chr12:11014400-11052000	Weak transcription	Fetal Brain Male	brain
9	chr12:11020200-11045400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:11024800-11037600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr12:11026000-11036000	Weak transcription	NH-A	brain
12	chr12:11026000-11045800	Weak transcription	Brain Germinal Matrix	brain
13	chr12:11026400-11043600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:11026600-11037400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr12:11028400-11053400	Weak transcription	Brain Substantia Nigra	brain
16	chr12:11028600-11038800	Weak transcription	Spleen	Spleen
17	chr12:11028600-11039200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr12:11028800-11036000	Weak transcription	Osteobl	bone
19	chr12:11028800-11037400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr12:11029200-11053200	Weak transcription	Fetal Brain Female	brain
21	chr12:11029600-11040600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr12:11030600-11036000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr12:11030600-11037000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:11030600-11037200	Weak transcription	Placenta	Placenta
25	chr12:11030600-11038800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr12:11030600-11038800	Weak transcription	Lung	lung
27	chr12:11030600-11044200	Weak transcription	Gastric	stomach
28	chr12:11030600-11044400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr12:11030600-11044600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr12:11030600-11045800	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr12:11030600-11046000	Weak transcription	Fetal Muscle Leg	muscle
32	chr12:11030600-11051200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr12:11030600-11053400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr12:11030600-11053400	Weak transcription	Esophagus	oesophagus
35	chr12:11030600-11054200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr12:11030800-11040800	Weak transcription	HSMMtube	muscle
37	chr12:11030800-11043200	Weak transcription	Liver	Liver
38	chr12:11031000-11037200	Weak transcription	Fetal Lung	lung
39	chr12:11031000-11038800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr12:11031000-11043000	Weak transcription	Fetal Intestine Large	intestine
41	chr12:11031000-11044200	Weak transcription	Primary B cells from peripheral blood	blood
42	chr12:11031000-11049400	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr12:11031000-11053200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr12:11031000-11055000	Weak transcription	Primary B cells from cord blood	blood
45	chr12:11031200-11036800	Weak transcription	Aorta	Aorta
46	chr12:11031200-11041400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:11031200-11041400	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr12:11031200-11044600	Weak transcription	Pancreas	Pancrea
49	chr12:11031600-11045400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr12:11032000-11036200	Weak transcription	HepG2	liver

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