Variant report

Variant	esv3488471
Chromosome Location	chr11:8183313-8183776
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139693754	chr11:8183337-8183338	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs541328632	chr11:8183362-8183363	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs191552421	chr11:8183370-8183371	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs182947206	chr11:8183392-8183393	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs145221032	chr11:8183402-8183403	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543136735	chr11:8183409-8183410	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561719576	chr11:8183411-8183412	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs56077504	chr11:8183450-8183451	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559493395	chr11:8183452-8183453	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs59935177	chr11:8183457-8183458	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs397967085	chr11:8183458-8183459	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs58198949	chr11:8183487-8183488	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs55961713	chr11:8183493-8183494	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs36103554	chr11:8183517-8183518	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs60419340	chr11:8183522-8183523	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs397967086	chr11:8183523-8183524	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541510263	chr11:8183568-8183569	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs530767301	chr11:8183577-8183578	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs144902217	chr11:8183587-8183588	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs544515916	chr11:8183616-8183617	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs564378033	chr11:8183617-8183618	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs186962026	chr11:8183626-8183627	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs149667878	chr11:8183643-8183644	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs145440357	chr11:8183646-8183647	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs148822067	chr11:8183650-8183651	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs549100677	chr11:8183670-8183671	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs145189942	chr11:8183672-8183673	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs67651384	chr11:8183691-8183692	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs67538440	chr11:8183707-8183708	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs191430957	chr11:8183734-8183735	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs533903867	chr11:8183737-8183738	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs182120648	chr11:8183754-8183755	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs66849637	chr11:8183772-8183773	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
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
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Dysmorphic features	22052655	CNVD
Intellectual disability	22052655	CNVD
Obesity	22052655	CNVD
Prostate cancer	18632612	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8156000-8189800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr11:8160800-8188600	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr11:8162000-8189400	Weak transcription	Primary B cells from peripheral blood	blood
4	chr11:8175600-8189400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr11:8179000-8189400	Weak transcription	Brain Hippocampus Middle	brain
6	chr11:8179200-8189600	Weak transcription	Right Ventricle	heart
7	chr11:8179400-8188800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr11:8180000-8183800	Weak transcription	Psoas Muscle	Psoas
9	chr11:8180000-8189000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr11:8180200-8183600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr11:8183000-8183400	Flanking Active TSS	Hela-S3	cervix
12	chr11:8183200-8183400	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr11:8183200-8183400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:8183200-8183600	Active TSS	Fetal Kidney	kidney
15	chr11:8183200-8184000	Enhancers	Left Ventricle	heart
16	chr11:8183400-8183600	Enhancers	Hela-S3	cervix
17	chr11:8183400-8183800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr11:8183600-8183800	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr11:8183600-8184000	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr11:8183600-8184000	Flanking Active TSS	Hela-S3	cervix

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