Variant report

Variant	nsv525957
Chromosome Location	chr11:86318892-86318909
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:86318542..86319850-chr11:86528941..86530646,11	MCF-7	breast:
2	chr11:86232940..86235698-chr11:86318097..86321251,3	MCF-7	breast:
3	chr11:86318121..86320638-chr11:86509827..86512612,4	MCF-7	breast:
4	chr11:86316496..86321662-chr11:86508610..86513631,11	MCF-7	breast:
5	chr11:86166955..86167789-chr11:86318883..86320001,8	MCF-7	breast:
6	chr11:86288660..86290609-chr11:86318150..86319919,2	K562	blood:
7	chr11:86316921..86319182-chr11:86528850..86531026,2	MCF-7	breast:
8	chr11:86302794..86305608-chr11:86317191..86320162,2	K562	blood:
9	chr11:86166796..86167792-chr11:86318880..86319916,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000150687	chromatin interactions

Extended variants
information (count: 3 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7109270	chr11:86318892-86318893	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs567686471	chr11:86318903-86318904	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs6592301	chr11:86318909-86318910	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:72)

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	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
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
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
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Attention deficit hyperactivity disorder	22241247	CNVD
Breast cancer	21958427	CNVD
Breast cancer	17133270	CNVD
Lung cancer	18438408	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86308800-86321600	Weak transcription	Left Ventricle	heart
2	chr11:86309400-86321600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:86315600-86319000	Weak transcription	Fetal Intestine Large	intestine
4	chr11:86316200-86320200	Enhancers	HUVEC	blood vessel
5	chr11:86316400-86320400	Enhancers	Fetal Stomach	stomach
6	chr11:86316800-86319600	Enhancers	Fetal Brain Male	brain
7	chr11:86317000-86319000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:86317000-86319000	Enhancers	Right Ventricle	heart
9	chr11:86317000-86319200	Enhancers	Stomach Smooth Muscle	stomach
10	chr11:86317000-86319200	Enhancers	A549	lung
11	chr11:86317000-86319600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:86317000-86319600	Enhancers	Ovary	ovary
13	chr11:86317000-86319800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr11:86317000-86320200	Enhancers	Fetal Heart	heart
15	chr11:86317200-86319000	Enhancers	Colon Smooth Muscle	Colon
16	chr11:86317200-86319200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr11:86317200-86319200	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr11:86317200-86319800	Enhancers	Fetal Muscle Leg	muscle
19	chr11:86317200-86320400	Enhancers	Rectal Smooth Muscle	rectum
20	chr11:86317200-86320400	Enhancers	Hela-S3	cervix
21	chr11:86317400-86319200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:86317400-86319600	Enhancers	Aorta	Aorta
23	chr11:86317400-86319600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr11:86317400-86320000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr11:86317400-86320000	Enhancers	HSMM	muscle
26	chr11:86317400-86320000	Enhancers	NH-A	brain
27	chr11:86317400-86320000	Enhancers	NHDF-Ad	bronchial
28	chr11:86317400-86320200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr11:86317400-86321600	Weak transcription	Pancreas	Pancrea
30	chr11:86317600-86319200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:86317600-86319600	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr11:86317600-86320000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr11:86317600-86320000	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr11:86317600-86320000	Enhancers	NHEK	skin
35	chr11:86317600-86320000	Enhancers	Osteobl	bone
36	chr11:86317800-86319600	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr11:86317800-86320000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr11:86317800-86320600	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr11:86317800-86320600	Enhancers	HMEC	breast
40	chr11:86318000-86319200	Weak transcription	Adipose Nuclei	Adipose
41	chr11:86318000-86319400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr11:86318000-86319400	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr11:86318000-86319600	Enhancers	Fetal Kidney	kidney
44	chr11:86318000-86320000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr11:86318200-86319000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr11:86318200-86319200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr11:86318200-86319600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr11:86318200-86321200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr11:86318400-86319000	Weak transcription	Stomach Mucosa	stomach
50	chr11:86318400-86319400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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