Variant report

Variant	nsv521169
Chromosome Location	chr11:9930234-9930893
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	chr11:9928185..9930607-chr11:9931281..9933826,2	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372207720	chr11:9930234-9930235	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs76933706	chr11:9930239-9930240	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs147535995	chr11:9930246-9930247	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530138549	chr11:9930248-9930249	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs71034745	chr11:9930251-9930252	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189839209	chr11:9930252-9930253	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149998949	chr11:9930263-9930264	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375448321	chr11:9930292-9930293	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574134671	chr11:9930300-9930301	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563846877	chr11:9930377-9930378	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184167559	chr11:9930387-9930388	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144563105	chr11:9930399-9930400	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs34026186	chr11:9930415-9930416	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs377481950	chr11:9930416-9930417	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552758492	chr11:9930431-9930432	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115270949	chr11:9930440-9930441	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs12796169	chr11:9930529-9930530	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs548897839	chr11:9930540-9930541	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563036605	chr11:9930578-9930579	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs559762948	chr11:9930595-9930596	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532053361	chr11:9930598-9930599	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs17271223	chr11:9930604-9930605	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs147249506	chr11:9930621-9930622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs140682897	chr11:9930658-9930659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs570169759	chr11:9930661-9930662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs539148417	chr11:9930676-9930677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs552718255	chr11:9930702-9930703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs188866714	chr11:9930729-9930730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs7111257	chr11:9930813-9930814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs555683826	chr11:9930819-9930820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs7358470	chr11:9930821-9930822	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs75991940	chr11:9930840-9930841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs112281848	chr11:9930842-9930843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs139103372	chr11:9930865-9930866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs189293480	chr11:9930876-9930877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs6483809	chr11:9930893-9930894	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:60)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9878800-9952200	Weak transcription	Aorta	Aorta
2	chr11:9894400-9978600	Weak transcription	Left Ventricle	heart
3	chr11:9904000-9937000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr11:9910000-9954600	Weak transcription	Pancreas	Pancrea
5	chr11:9915000-9937200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr11:9916600-9932600	Weak transcription	Fetal Intestine Small	intestine
7	chr11:9916800-9944400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:9916800-9944400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr11:9917000-9937200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr11:9917600-9933200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr11:9917600-9934200	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr11:9917600-9951800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr11:9917600-9952400	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr11:9917800-9933200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr11:9917800-9952600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr11:9920000-9933200	Weak transcription	Fetal Stomach	stomach
17	chr11:9921400-9934400	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr11:9923400-9943600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr11:9923400-9952200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:9924000-9944400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr11:9925200-9944400	Weak transcription	Ovary	ovary
22	chr11:9925400-9951000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr11:9925400-9952200	Weak transcription	Lung	lung
24	chr11:9927800-9944400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr11:9928000-9944200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr11:9928000-9944400	Weak transcription	Brain Anterior Caudate	brain
27	chr11:9928400-9944200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr11:9928600-9938200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr11:9928600-9944200	Weak transcription	Adipose Nuclei	Adipose
30	chr11:9928800-9931000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr11:9929000-9935600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr11:9929000-9944200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr11:9929000-9944400	Weak transcription	Liver	Liver
34	chr11:9929000-9952000	Weak transcription	Fetal Lung	lung
35	chr11:9929200-9941000	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr11:9929200-9966800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr11:9929400-9933200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr11:9929400-9934000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr11:9929400-9936000	Weak transcription	NHEK	skin
40	chr11:9929400-9944400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr11:9929600-9935400	Weak transcription	NHLF	lung
42	chr11:9929600-9936200	Weak transcription	NH-A	brain
43	chr11:9929600-9944200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr11:9929600-9944400	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr11:9929600-9944400	Weak transcription	HSMM	muscle
46	chr11:9929600-9944400	Weak transcription	Osteobl	bone
47	chr11:9929600-9953000	Weak transcription	HSMMtube	muscle
48	chr11:9929800-9931600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr11:9929800-9931600	Weak transcription	A549	lung
50	chr11:9929800-9931600	Weak transcription	NHDF-Ad	bronchial

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