Variant report

Variant	esv2254869
Chromosome Location	chr11:45356298-45357379
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	chr11:45354038..45357345-chr11:45359255..45361825,3	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148332739	chr11:45356327-45356328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs555505665	chr11:45356366-45356367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs573930730	chr11:45356380-45356381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542923354	chr11:45356383-45356384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553340932	chr11:45356451-45356452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs4755975	chr11:45356463-45356464	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs541250804	chr11:45356478-45356479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs545047131	chr11:45356529-45356530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184242072	chr11:45356558-45356559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530870209	chr11:45356562-45356563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544338323	chr11:45356601-45356602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs76554525	chr11:45356626-45356627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530256796	chr11:45356676-45356677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs115714921	chr11:45356686-45356687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564211948	chr11:45356734-45356735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577554476	chr11:45356832-45356833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567018872	chr11:45356854-45356855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs10742750	chr11:45356863-45356864	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs551042760	chr11:45356900-45356901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs562945797	chr11:45356979-45356980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs571229981	chr11:45357052-45357053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs188576660	chr11:45357073-45357074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs369878292	chr11:45357288-45357289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs180902793	chr11:45357289-45357290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	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

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45353400-45357800	Enhancers	Fetal Muscle Leg	muscle
2	chr11:45353800-45357000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr11:45354400-45359400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:45355200-45361000	Weak transcription	Fetal Kidney	kidney
5	chr11:45355600-45356600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:45355600-45359400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr11:45355600-45359600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:45355600-45361200	Weak transcription	Fetal Stomach	stomach
9	chr11:45356200-45356400	Enhancers	Aorta	Aorta
10	chr11:45356200-45356400	Enhancers	Fetal Brain Female	brain
11	chr11:45356200-45360600	Weak transcription	Fetal Brain Male	brain
12	chr11:45356400-45361000	Weak transcription	Fetal Brain Female	brain
13	chr11:45356800-45357400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:45357000-45357200	Enhancers	Fetal Muscle Trunk	muscle

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