Variant report

Variant	nsv518426
Chromosome Location	chr11:85542482-85542876
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:85541255..85543364-chr11:86511480..86513025,2	MCF-7	breast:
2	chr11:85447110..85449601-chr11:85539919..85542813,2	MCF-7	breast:
3	chr11:85541180..85543310-chr17:56707906..56709608,2	MCF-7	breast:
4	chr11:85448431..85450003-chr11:85541669..85543570,2	MCF-7	breast:
5	chr11:85536056..85537864-chr11:85539070..85542724,4	K562	blood:
6	chr11:85368566..85377997-chr11:85535712..85544822,15	MCF-7	breast:
7	chr11:85541728..85543673-chr6:19837503..19839087,2	MCF-7	breast:
8	chr11:85542289..85542895-chr11:85555344..85556058,2	MCF-7	breast:
9	chr11:85535912..85542788-chr11:85553207..85557743,22	MCF-7	breast:
10	chr11:85437764..85439371-chr11:85541514..85543785,2	MCF-7	breast:
11	chr11:85457955..85460944-chr11:85541331..85543778,2	MCF-7	breast:
12	chr11:85456897..85461654-chr11:85539528..85543738,6	MCF-7	breast:
13	chr11:85539001..85544573-chr11:85562593..85567590,7	MCF-7	breast:
14	chr11:85540645..85543308-chr6:26157677..26159899,2	MCF-7	breast:
15	chr11:85535201..85544742-chr11:85551836..85558472,22	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000150687	chromatin interactions
ENSG00000137504	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000215504	chromatin interactions
ENSG00000150676	chromatin interactions
ENSG00000158373	chromatin interactions
ENSG00000172201	chromatin interactions
ENSG00000137501	chromatin interactions

Extended variants
information (count: 14 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1445500	chr11:85542482-85542483	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs530885949	chr11:85542522-85542523	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs35426411	chr11:85542541-85542542	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs552502112	chr11:85542550-85542551	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs561622983	chr11:85542670-85542671	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs570728938	chr11:85542684-85542685	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs192544594	chr11:85542696-85542697	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs184727524	chr11:85542708-85542709	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs368738094	chr11:85542719-85542720	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs552857535	chr11:85542753-85542754	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs11234431	chr11:85542762-85542763	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs535586373	chr11:85542821-85542822	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs556631046	chr11:85542864-85542865	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs1445501	chr11:85542876-85542877	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	21364760	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Colorectal cancer	16912164	CNVD
Mental retardation	17847001	CNVD
Melanoma	19509136	CNVD
Sudden cardiac death	19188705	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ductal carcinoma	22052326	CNVD
Obesity	20622171	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Attention deficit hyperactivity disorder	22241247	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85536400-85543400	Enhancers	Stomach Mucosa	stomach
2	chr11:85537800-85546800	Weak transcription	Left Ventricle	heart
3	chr11:85539200-85555400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:85540000-85546400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr11:85540000-85555000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:85540000-85555400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr11:85540000-85565000	Weak transcription	Ovary	ovary
8	chr11:85540200-85545600	Weak transcription	Fetal Intestine Small	intestine
9	chr11:85540600-85543200	Weak transcription	NHDF-Ad	bronchial
10	chr11:85541400-85543600	Enhancers	A549	lung
11	chr11:85541800-85542800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr11:85542000-85542600	Enhancers	Fetal Intestine Large	intestine
13	chr11:85542000-85542800	Enhancers	Liver	Liver
14	chr11:85542400-85542800	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr11:85542800-85546200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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