Variant report

Variant	esv2042790
Chromosome Location	chr11:47393934-47393935
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:47391440..47404809-chr11:47427075..47436409,23	K562	blood:
2	chr11:47392669..47398633-chr11:47427643..47432695,11	MCF-7	breast:
3	chr11:47393904..47396157-chr11:47470768..47473651,2	K562	blood:
4	chr11:47291173..47293615-chr11:47393614..47395294,2	K562	blood:
5	chr11:47195854..47197840-chr11:47393831..47395541,2	K562	blood:
6	chr11:47387142..47389249-chr11:47393503..47395461,2	K562	blood:
7	chr11:47380338..47382124-chr11:47391375..47394972,3	K562	blood:

Variant related genes	Relation type
ENSG00000110514	chromatin interactions
ENSG00000255197	chromatin interactions
ENSG00000165915	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 58 )

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	rs5791759	chr11:47393934-47393935	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	3 gene(s)	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47377200-47397800	Weak transcription	Fetal Muscle Leg	muscle
2	chr11:47377600-47396800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr11:47377600-47397600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr11:47377600-47397800	Weak transcription	Brain Substantia Nigra	brain
5	chr11:47380000-47397800	Weak transcription	Esophagus	oesophagus
6	chr11:47380200-47395200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr11:47380200-47396600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr11:47380200-47397200	Weak transcription	Brain Anterior Caudate	brain
9	chr11:47380200-47397800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr11:47380400-47397000	Weak transcription	Lung	lung
11	chr11:47381000-47395400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:47381600-47396800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr11:47382000-47395200	Weak transcription	Brain Hippocampus Middle	brain
14	chr11:47382200-47395200	Weak transcription	Fetal Intestine Small	intestine
15	chr11:47386000-47395000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr11:47386000-47395200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr11:47386000-47396200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr11:47386200-47394200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr11:47386800-47395200	Weak transcription	HepG2	liver
20	chr11:47388400-47395200	Strong transcription	Primary B cells from peripheral blood	blood
21	chr11:47389800-47394400	Strong transcription	Primary B cells from cord blood	blood
22	chr11:47390200-47398400	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr11:47391000-47395200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr11:47391400-47395400	Weak transcription	Hela-S3	cervix
25	chr11:47391400-47395600	Genic enhancers	Primary monocytes fromperipheralblood	blood
26	chr11:47391600-47394200	Genic enhancers	Monocytes-CD14+_RO01746	blood
27	chr11:47391600-47395400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr11:47391600-47396000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr11:47391800-47395400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr11:47391800-47395400	Weak transcription	K562	blood
31	chr11:47392600-47395400	Weak transcription	Adipose Nuclei	Adipose
32	chr11:47393200-47399600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr11:47393400-47394000	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
34	chr11:47393400-47395200	Strong transcription	GM12878-XiMat	blood
35	chr11:47393400-47395400	Strong transcription	Spleen	Spleen
36	chr11:47393600-47394000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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