Variant report

Variant	esv3434644
Chromosome Location	chr11:5829480-5829645
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:5621238..5622269-chr11:5829297..5830332,4	MCF-7	breast:
2	chr11:5823269..5825988-chr11:5829238..5831177,2	K562	blood:
3	chr11:5829421..5830302-chr11:5912492..5913020,2	MCF-7	breast:
4	chr11:5497451..5498014-chr11:5829478..5830015,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540920152	chr11:5829481-5829482	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs1840175	chr11:5829496-5829497	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs529818454	chr11:5829534-5829535	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs141051906	chr11:5829542-5829543	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs548118635	chr11:5829548-5829549	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs569700536	chr11:5829562-5829563	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs530543039	chr11:5829565-5829566	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs552102963	chr11:5829567-5829568	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs200675862	chr11:5829571-5829572	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs201516214	chr11:5829572-5829573	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs74051161	chr11:5829586-5829587	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Esophageal adenocarcinoma	18519675	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
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	23613489	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ependymoma	20639864	CNVD
Type 2 diabetes	21526130	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5823200-5829600	Weak transcription	Fetal Heart	heart
2	chr11:5828800-5829600	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr11:5828800-5829800	Enhancers	H1 Cell Line	embryonic stem cell
4	chr11:5828800-5829800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:5828800-5829800	Enhancers	Placenta	Placenta
6	chr11:5828800-5832200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr11:5829000-5829600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr11:5829200-5829600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr11:5829200-5829800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:5829200-5829800	Enhancers	Right Ventricle	heart
11	chr11:5829400-5829800	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr11:5829400-5829800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr11:5829400-5830200	Active TSS	Primary hematopoietic stem cells	blood
14	chr11:5829600-5829800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr11:5829600-5829800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr11:5829600-5829800	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr11:5829600-5829800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:5829600-5829800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:5829600-5829800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr11:5829600-5829800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr11:5829600-5829800	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr11:5829600-5829800	Enhancers	Primary B cells from peripheral blood	blood
23	chr11:5829600-5829800	Bivalent/Poised TSS	Primary T cells fromperipheralblood	blood
24	chr11:5829600-5829800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr11:5829600-5829800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr11:5829600-5829800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr11:5829600-5829800	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
28	chr11:5829600-5829800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr11:5829600-5829800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr11:5829600-5829800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr11:5829600-5829800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr11:5829600-5829800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr11:5829600-5829800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr11:5829600-5829800	Enhancers	Adipose Nuclei	Adipose
35	chr11:5829600-5829800	Enhancers	Liver	Liver
36	chr11:5829600-5829800	Bivalent Enhancer	Brain Angular Gyrus	brain
37	chr11:5829600-5829800	Flanking Active TSS	Brain Anterior Caudate	brain
38	chr11:5829600-5829800	Enhancers	Brain Germinal Matrix	brain
39	chr11:5829600-5829800	Flanking Active TSS	Brain Hippocampus Middle	brain
40	chr11:5829600-5829800	Bivalent Enhancer	Brain Substantia Nigra	brain
41	chr11:5829600-5829800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
42	chr11:5829600-5829800	Enhancers	Fetal Heart	heart
43	chr11:5829600-5829800	Bivalent Enhancer	Fetal Intestine Large	intestine
44	chr11:5829600-5829800	Bivalent Enhancer	Fetal Intestine Small	intestine
45	chr11:5829600-5829800	Enhancers	Fetal Lung	lung
46	chr11:5829600-5829800	Enhancers	Fetal Muscle Leg	muscle
47	chr11:5829600-5829800	Bivalent Enhancer	Fetal Stomach	stomach
48	chr11:5829600-5829800	Enhancers	Fetal Thymus	thymus
49	chr11:5829600-5829800	Enhancers	Ovary	ovary
50	chr11:5829600-5829800	Active TSS	Rectal Mucosa Donor 29	rectum

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