Variant report

Variant	esv3417570
Chromosome Location	chr11:8627504-8627966
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	chr11:8626986..8629942-chr11:8631713..8635066,3	K562	blood:
2	chr11:8625850..8627964-chr11:8654045..8656261,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 65 )

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	rs571129400	chr11:8627507-8627508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs137996784	chr11:8627514-8627515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191049314	chr11:8627555-8627556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371820562	chr11:8627571-8627572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs80127733	chr11:8627574-8627575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569762200	chr11:8627610-8627611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs140573749	chr11:8627633-8627634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558938007	chr11:8627646-8627647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572346744	chr11:8627655-8627656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534637964	chr11:8627671-8627672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184247038	chr11:8627674-8627675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574343695	chr11:8627678-8627679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs79230711	chr11:8627685-8627686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563353467	chr11:8627689-8627690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs11042010	chr11:8627825-8627826	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs545967717	chr11:8627871-8627872	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs150455730	chr11:8627874-8627875	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs201659095	chr11:8627888-8627889	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs528778563	chr11:8627889-8627890	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs144201784	chr11:8627890-8627891	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs542090290	chr11:8627891-8627892	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs10769928	chr11:8627892-8627893	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs370968590	chr11:8627894-8627895	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs68035986	chr11:8627903-8627904	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs561942338	chr11:8627905-8627906	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs372657934	chr11:8627907-8627908	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs66841978	chr11:8627911-8627912	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs200885520	chr11:8627912-8627913	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs200850978	chr11:8627914-8627915	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs571985352	chr11:8627915-8627916	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs11042011	chr11:8627916-8627917	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs112573204	chr11:8627922-8627923	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs377723988	chr11:8627925-8627926	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs550836651	chr11:8627944-8627945	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Breast cancer	21785460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Barrett''s syndrome	19417022	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8623400-8634200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:8623600-8632000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:8625200-8627600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr11:8625200-8627800	Enhancers	HMEC	breast
5	chr11:8625200-8628000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr11:8625200-8628600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr11:8625400-8627800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:8625400-8628400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr11:8625400-8628400	Enhancers	HSMM	muscle
10	chr11:8625600-8628800	Enhancers	HSMMtube	muscle
11	chr11:8626000-8629800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr11:8626000-8637000	Weak transcription	Fetal Intestine Small	intestine
13	chr11:8626000-8637200	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr11:8626000-8661600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr11:8626000-8661800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr11:8626200-8629000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr11:8626200-8637200	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr11:8626200-8653000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr11:8626400-8630000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr11:8626400-8630000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr11:8626400-8634000	Weak transcription	Placenta	Placenta
22	chr11:8626400-8634200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr11:8626400-8636000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr11:8626400-8636200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr11:8626400-8636800	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr11:8626400-8637200	Weak transcription	Pancreas	Pancrea
27	chr11:8626400-8637400	Weak transcription	Adipose Nuclei	Adipose
28	chr11:8626400-8638400	Weak transcription	Duodenum Mucosa	Duodenum
29	chr11:8626400-8638400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr11:8626400-8643400	Weak transcription	Fetal Lung	lung
31	chr11:8626600-8627800	Enhancers	NHEK	skin
32	chr11:8626600-8630000	Weak transcription	NH-A	brain
33	chr11:8626600-8637200	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr11:8626600-8639600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr11:8626600-8648800	Weak transcription	Stomach Mucosa	stomach
36	chr11:8626800-8627800	Enhancers	A549	lung
37	chr11:8626800-8629800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr11:8626800-8630000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr11:8626800-8630000	Weak transcription	NHDF-Ad	bronchial
40	chr11:8626800-8630000	Weak transcription	NHLF	lung
41	chr11:8626800-8630000	Weak transcription	Osteobl	bone
42	chr11:8626800-8637000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr11:8626800-8637200	Weak transcription	Esophagus	oesophagus
44	chr11:8626800-8659600	Weak transcription	Hela-S3	cervix
45	chr11:8627400-8630000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr11:8627600-8628000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr11:8627600-8637200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:8627800-8628000	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr11:8627800-8630000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr11:8627800-8637000	Weak transcription	HMEC	breast

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