Variant report

Variant	nsv525199
Chromosome Location	chr11:18793360-18793399
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	chr11:18743551..18744248-chr11:18792745..18793490,2	K562	blood:

Extended variants
information (count: 3 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4075664	chr11:18793360-18793361	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs192297491	chr11:18793379-18793380	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs4075663	chr11:18793399-18793400	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:54)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18783000-18801800	Weak transcription	Spleen	Spleen
2	chr11:18784000-18808000	Weak transcription	Fetal Brain Female	brain
3	chr11:18785600-18793400	Weak transcription	Fetal Brain Male	brain
4	chr11:18790800-18794000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr11:18790800-18795000	Weak transcription	Brain Anterior Caudate	brain
6	chr11:18790800-18811400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr11:18791800-18793400	Strong transcription	Brain Germinal Matrix	brain
8	chr11:18792000-18794000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr11:18792400-18794000	Enhancers	GM12878-XiMat	blood
10	chr11:18792400-18794200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr11:18792800-18793600	Enhancers	Brain Angular Gyrus	brain
12	chr11:18793000-18794600	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr11:18793200-18793800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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