Variant report

Variant	esv3457419
Chromosome Location	chr11:19111284-19111683
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78549850	chr11:19111295-19111296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs76874134	chr11:19111309-19111310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs72889773	chr11:19111313-19111314	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs532341894	chr11:19111332-19111333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368383426	chr11:19111346-19111347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547250571	chr11:19111358-19111359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372496489	chr11:19111398-19111399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377207731	chr11:19111403-19111404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535995799	chr11:19111407-19111408	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376341181	chr11:19111408-19111409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573071614	chr11:19111415-19111416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187550847	chr11:19111418-19111419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192748002	chr11:19111428-19111429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533510275	chr11:19111435-19111436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553260387	chr11:19111483-19111484	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112155438	chr11:19111488-19111489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112670572	chr11:19111493-19111494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182855930	chr11:19111494-19111495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111593134	chr11:19111498-19111499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374560852	chr11:19111501-19111502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11826185	chr11:19111524-19111525	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs112566384	chr11:19111549-19111550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7927007	chr11:19111559-19111560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555613732	chr11:19111564-19111565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542777478	chr11:19111580-19111581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113221303	chr11:19111587-19111588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561334430	chr11:19111588-19111589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142258543	chr11:19111605-19111606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370472710	chr11:19111611-19111612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534472436	chr11:19111619-19111620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150912524	chr11:19111623-19111624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191911808	chr11:19111627-19111628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540588925	chr11:19111661-19111662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs16936126	chr11:19111668-19111669	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:55)

Disease	PMID	Source
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
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Lung adenocarcinoma	17086460	CNVD
Urothelial cell carcinoma	18451213	CNVD
Lung cancer	17086460	CNVD
Uterine serous papillary cancer	19536090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:19104800-19111800	Weak transcription	Esophagus	oesophagus
2	chr11:19108200-19113400	Enhancers	HUVEC	blood vessel
3	chr11:19109800-19111800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr11:19110000-19112000	Weak transcription	NH-A	brain
5	chr11:19110000-19115400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr11:19110400-19112800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:19110600-19112000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:19110800-19111400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr11:19110800-19112000	Enhancers	NHEK	skin

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