Variant report

Variant	esv3460975
Chromosome Location	chr11:47887668-47888195
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572621325	chr11:47887689-47887690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs369927374	chr11:47887777-47887778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376330741	chr11:47887800-47887801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541418077	chr11:47887912-47887913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs377067427	chr11:47887916-47887917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs370360586	chr11:47887932-47887933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564509827	chr11:47887947-47887948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs372475325	chr11:47887949-47887950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192520717	chr11:47887970-47887971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184373863	chr11:47887972-47887973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs377480647	chr11:47887976-47887977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562653589	chr11:47888001-47888002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs11039436	chr11:47888036-47888037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
14	rs112068326	chr11:47888124-47888125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs192643798	chr11:47888125-47888126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12270979	chr11:47888154-47888155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs78417946	chr11:47888159-47888160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs556322281	chr11:47888186-47888187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Parathyroid adenoma	22454399	CNVD
Medulloblastoma	21979893	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
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Intracranial ependymoma	16609018	CNVD
Myxofibrosarcoma	16751306	CNVD
Potocki-Shaffer syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Breast cancer	20409316	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47870800-47889400	Enhancers	Primary B cells from peripheral blood	blood
2	chr11:47880000-47891000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr11:47880200-47891000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr11:47886000-47888200	Weak transcription	Placenta	Placenta
5	chr11:47886000-47891200	Weak transcription	Spleen	Spleen
6	chr11:47886000-47891600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr11:47886200-47891000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr11:47886200-47891200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:47886400-47889200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr11:47886800-47890800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr11:47886800-47891000	Weak transcription	NH-A	brain
12	chr11:47887000-47888600	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr11:47887000-47888600	Enhancers	Adipose Nuclei	Adipose
14	chr11:47887000-47889200	Enhancers	Primary B cells from cord blood	blood
15	chr11:47887000-47891000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr11:47887000-47891000	Weak transcription	HUVEC	blood vessel
17	chr11:47887000-47891000	Weak transcription	Osteobl	bone
18	chr11:47887000-47891200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr11:47887000-47891200	Weak transcription	HSMMtube	muscle
20	chr11:47887000-47891200	Weak transcription	NHLF	lung
21	chr11:47887000-47891400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:47887000-47892000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:47887200-47888600	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr11:47887200-47891000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr11:47887200-47891000	Weak transcription	HSMM	muscle
26	chr11:47887400-47888800	Enhancers	NHDF-Ad	bronchial
27	chr11:47887400-47889200	Weak transcription	Hela-S3	cervix
28	chr11:47887600-47889400	Weak transcription	A549	lung

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