Variant report

Variant	esv12878
Chromosome Location	chr11:8215395-8215955
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	chr11:8214526..8217689-chr11:8218013..8220798,3	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112153433	chr11:8215416-8215417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565926615	chr11:8215469-8215470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs71474973	chr11:8215521-8215522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11041793	chr11:8215532-8215533	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs554932827	chr11:8215539-8215540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs55682599	chr11:8215555-8215556	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs74606367	chr11:8215566-8215567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191475667	chr11:8215567-8215568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201152955	chr11:8215585-8215586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs34004961	chr11:8215598-8215599	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574012378	chr11:8215618-8215619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11041794	chr11:8215666-8215667	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs4564325	chr11:8215751-8215752	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs573127413	chr11:8215757-8215758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs4412746	chr11:8215795-8215796	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs75475439	chr11:8215877-8215878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139173827	chr11:8215919-8215920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187970428	chr11:8215935-8215936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7114892	chr11:8215937-8215938	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:70)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	17440070	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8214000-8215400	Enhancers	Primary B cells from peripheral blood	blood
2	chr11:8214600-8216800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr11:8214600-8218400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr11:8214600-8218400	Weak transcription	Brain Substantia Nigra	brain
5	chr11:8214800-8218000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr11:8215000-8215400	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr11:8215000-8216800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr11:8215200-8215800	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr11:8215200-8217200	Weak transcription	Brain Hippocampus Middle	brain
10	chr11:8215400-8218400	Weak transcription	Primary B cells from peripheral blood	blood
11	chr11:8215400-8220200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr11:8215800-8220200	Enhancers	Monocytes-CD14+_RO01746	blood

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