Variant report

Variant	esv3399188
Chromosome Location	chr11:67050063-67050344
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	POLR2A	chr11:67050259-67050294	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr11:67050127-67050191	MCF-7	breast:	n/a	n/a
3	POLR2A	chr11:67049833-67050389	GM12892	blood:	n/a	n/a
4	POLR2A	chr11:67049883-67050540	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:67050181-67050348	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr11:67049958-67050119	MCF-7	breast:	n/a	n/a
7	POLR2A	chr11:67041711-67058704	HL-60	blood:	n/a	n/a
8	POLR2A	chr11:67049827-67050402	GM12892	blood:	n/a	n/a
9	POLR2A	chr11:67049829-67050196	GM12878	blood:	n/a	n/a
10	POLR2A	chr11:67049854-67050485	GM12878	blood:	n/a	n/a
11	POLR2A	chr11:67050323-67050353	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr11:67050220-67050479	HepG2	liver:	n/a	n/a
13	POLR2A	chr11:67041841-67058702	HL-60	blood:	n/a	n/a
14	POLR2A	chr11:67050261-67050929	GM12892	blood:	n/a	n/a
15	POLR2A	chr11:67050080-67050106	HepG2	liver:	n/a	n/a
16	POLR2A	chr11:67050193-67050391	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
ADRBK1	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563160278	chr11:67050071-67050072	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs530674507	chr11:67050082-67050083	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs542514324	chr11:67050100-67050101	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs3730145	chr11:67050123-67050124	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs144369195	chr11:67050130-67050131	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs61763966	chr11:67050153-67050154	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs148380971	chr11:67050172-67050173	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs377202873	chr11:67050197-67050198	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs370741620	chr11:67050216-67050217	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs375195634	chr11:67050244-67050245	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs565263383	chr11:67050254-67050255	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs150236476	chr11:67050268-67050269	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs367821561	chr11:67050269-67050270	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs138968014	chr11:67050286-67050287	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs2071007	chr11:67050292-67050293	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs184768658	chr11:67050293-67050294	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs551160239	chr11:67050315-67050316	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs373717461	chr11:67050316-67050317	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs61763967	chr11:67050326-67050327	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs536944259	chr11:67050342-67050343	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	16417655	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	17217626	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	21045282	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	19153074	CNVD
lymphocytic leukemia	21291569	CNVD

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67037200-67055800	Genic enhancers	Spleen	Spleen
2	chr11:67038200-67055200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:67043400-67054800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:67044200-67053400	Strong transcription	HepG2	liver
5	chr11:67045000-67054600	Weak transcription	Fetal Brain Male	brain
6	chr11:67045000-67054800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr11:67045000-67055200	Weak transcription	Fetal Kidney	kidney
8	chr11:67045200-67054800	Strong transcription	Cortex derived primary cultured neurospheres	brain
9	chr11:67045200-67054800	Strong transcription	Brain Germinal Matrix	brain
10	chr11:67045400-67054600	Strong transcription	Fetal Brain Female	brain
11	chr11:67045400-67055800	Genic enhancers	Placenta	Placenta
12	chr11:67045600-67050600	Weak transcription	NH-A	brain
13	chr11:67045600-67051600	Strong transcription	NHEK	skin
14	chr11:67045600-67052600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr11:67045600-67054200	Strong transcription	Brain Inferior Temporal Lobe	brain
16	chr11:67045600-67054600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:67045600-67054600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:67045600-67054600	Strong transcription	Osteobl	bone
19	chr11:67045600-67054800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr11:67045600-67055200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr11:67045800-67051000	Genic enhancers	Primary monocytes fromperipheralblood	blood
22	chr11:67045800-67054200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr11:67045800-67054200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:67045800-67054400	Strong transcription	Fetal Intestine Small	intestine
25	chr11:67045800-67055000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr11:67045800-67055000	Strong transcription	Fetal Intestine Large	intestine
27	chr11:67045800-67055000	Weak transcription	Right Atrium	heart
28	chr11:67045800-67055200	Strong transcription	NHLF	lung
29	chr11:67046000-67051800	Genic enhancers	Primary hematopoietic stem cells	blood
30	chr11:67046000-67053600	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr11:67046000-67054200	Genic enhancers	Primary T cells fromperipheralblood	blood
32	chr11:67046000-67054200	Strong transcription	Pancreas	Pancrea
33	chr11:67046000-67054200	Strong transcription	Placenta Amnion	Placenta Amnion
34	chr11:67046000-67054400	Strong transcription	Fetal Stomach	stomach
35	chr11:67046000-67054800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:67046200-67050200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr11:67046200-67051200	Genic enhancers	Primary B cells from cord blood	blood
38	chr11:67046200-67053600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
39	chr11:67046200-67053600	Strong transcription	Brain Cingulate Gyrus	brain
40	chr11:67046200-67053800	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr11:67046200-67054200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr11:67046400-67051200	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
43	chr11:67046400-67053400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr11:67046400-67053600	Strong transcription	GM12878-XiMat	blood
45	chr11:67046400-67054000	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr11:67046400-67054200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr11:67046400-67054400	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr11:67046400-67054400	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr11:67046400-67054400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr11:67046400-67054600	Genic enhancers	Primary T helper cells fromperipheralblood	blood

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