Variant report

Variant	esv1119450
Chromosome Location	chr11:57334431-57334432
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:57226847..57229273-chr11:57333715..57336392,3	K562	blood:
2	chr11:57333149..57335001-chr11:57423752..57425633,2	MCF-7	breast:
3	chr11:57333866..57335515-chr11:57412954..57415220,2	MCF-7	breast:
4	chr11:57327644..57330005-chr11:57333922..57337612,3	MCF-7	breast:
5	chr11:57327395..57330441-chr11:57334291..57337676,3	K562	blood:

Variant related genes	Relation type
ENSG00000186907	chromatin interactions
ENSG00000156587	chromatin interactions
ENSG00000166793	chromatin interactions
ENSG00000254602	chromatin interactions
ENSG00000172409	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 56 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs398016134	chr11:57334432-57334433	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Glioblastoma multiforme	22286061	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
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Autism	22495309	CNVD
Autism	20808228	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	17142309	CNVD
Breast cancer	21509527	CNVD
Angio-oedema	21790735	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57320600-57334800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr11:57322000-57334600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:57329800-57334600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:57332800-57334800	Flanking Active TSS	Primary T cells from cord blood	blood
5	chr11:57332800-57335000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr11:57333000-57334800	Flanking Active TSS	Primary hematopoietic stem cells	blood
7	chr11:57333000-57335000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr11:57333000-57335000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr11:57333000-57335000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr11:57333200-57334600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr11:57333200-57334800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr11:57333200-57334800	Flanking Active TSS	Fetal Lung	lung
13	chr11:57333200-57335000	Flanking Active TSS	Liver	Liver
14	chr11:57333200-57335800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr11:57333200-57336000	Active TSS	GM12878-XiMat	blood
16	chr11:57333200-57336200	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr11:57333200-57336400	Active TSS	Fetal Brain Female	brain
18	chr11:57333400-57334600	Flanking Active TSS	Fetal Intestine Large	intestine
19	chr11:57333400-57334800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr11:57333400-57334800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
21	chr11:57333400-57334800	Flanking Active TSS	Primary B cells from peripheral blood	blood
22	chr11:57333400-57334800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
23	chr11:57333400-57334800	Flanking Active TSS	Fetal Intestine Small	intestine
24	chr11:57333400-57334800	Flanking Active TSS	Osteobl	bone
25	chr11:57333400-57335000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr11:57333400-57335000	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr11:57333400-57335000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr11:57333400-57335000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
29	chr11:57333400-57335000	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr11:57333400-57335000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr11:57333400-57335800	Active TSS	Small Intestine	intestine
32	chr11:57333400-57336000	Active TSS	Left Ventricle	heart
33	chr11:57333400-57336000	Active TSS	HSMMtube	muscle
34	chr11:57333600-57334600	Flanking Active TSS	Fetal Stomach	stomach
35	chr11:57333600-57334800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr11:57333600-57334800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr11:57333600-57334800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
38	chr11:57333600-57335000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:57333600-57335000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr11:57333600-57335800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr11:57333600-57335800	Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr11:57333600-57335800	Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr11:57333600-57335800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr11:57333600-57335800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
45	chr11:57333600-57335800	Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr11:57333600-57335800	Active TSS	Right Ventricle	heart
47	chr11:57333600-57336000	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr11:57333600-57336000	Active TSS	Ovary	ovary
49	chr11:57333600-57336000	Active TSS	Thymus	Thymus
50	chr11:57333600-57336000	Active TSS	NHDF-Ad	bronchial

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links