Variant report

Variant	nsv32300
Chromosome Location	chr11:86795356-86795356
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:86666646..86669098-chr11:86793601..86796453,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000246523	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 74 )

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	rs5793234	chr11:86795356-86795357	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Ewing''s sarcoma	17952124	CNVD
Obesity	20622171	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86770400-86808200	Weak transcription	HUVEC	blood vessel
2	chr11:86774800-86806400	Weak transcription	Small Intestine	intestine
3	chr11:86776600-86815600	Weak transcription	HSMMtube	muscle
4	chr11:86782600-86795400	Weak transcription	Fetal Heart	heart
5	chr11:86783000-86814000	Weak transcription	Hela-S3	cervix
6	chr11:86783200-86799000	Weak transcription	Psoas Muscle	Psoas
7	chr11:86787200-86795400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr11:86787400-86819600	Weak transcription	NH-A	brain
9	chr11:86787600-86804200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:86787600-86825200	Weak transcription	Brain Substantia Nigra	brain
11	chr11:86787800-86797200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:86787800-86797200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:86787800-86798200	Weak transcription	Spleen	Spleen
14	chr11:86787800-86804000	Weak transcription	Fetal Intestine Large	intestine
15	chr11:86787800-86817400	Weak transcription	Colon Smooth Muscle	Colon
16	chr11:86787800-86819400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr11:86788000-86795400	Weak transcription	Lung	lung
18	chr11:86788000-86797200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr11:86788000-86797200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr11:86788000-86797200	Weak transcription	Esophagus	oesophagus
21	chr11:86788000-86797200	Weak transcription	Fetal Intestine Small	intestine
22	chr11:86788000-86797200	Weak transcription	Fetal Thymus	thymus
23	chr11:86788000-86797200	Weak transcription	Thymus	Thymus
24	chr11:86788000-86798400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr11:86788000-86800000	Weak transcription	Brain Germinal Matrix	brain
26	chr11:86788000-86800000	Weak transcription	Gastric	stomach
27	chr11:86788000-86803200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr11:86788000-86803600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr11:86788000-86804200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:86788000-86804200	Weak transcription	Aorta	Aorta
31	chr11:86788000-86807000	Weak transcription	Pancreas	Pancrea
32	chr11:86788000-86808600	Weak transcription	Left Ventricle	heart
33	chr11:86788200-86795400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:86788200-86796800	Weak transcription	Fetal Muscle Leg	muscle
35	chr11:86788200-86797800	Weak transcription	Fetal Muscle Trunk	muscle
36	chr11:86788200-86797800	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr11:86788200-86808400	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr11:86788200-86817800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr11:86788200-86824600	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr11:86788200-86830400	Weak transcription	Right Ventricle	heart
41	chr11:86788400-86803000	Weak transcription	NHDF-Ad	bronchial
42	chr11:86788400-86807800	Weak transcription	Brain Hippocampus Middle	brain
43	chr11:86788600-86797200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:86788600-86802600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr11:86788600-86804200	Weak transcription	Placenta	Placenta
46	chr11:86788600-86806000	Weak transcription	A549	lung
47	chr11:86788600-86836400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr11:86789000-86797200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr11:86789000-86797600	Weak transcription	K562	blood
50	chr11:86789000-86802600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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