Variant report

Variant	esv1344045
Chromosome Location	chr11:17301349-17301350
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:17293894..17295404-chr11:17299540..17302043,2	K562	blood:
2	chr11:17298938..17303193-chr11:17304940..17310347,8	K562	blood:
3	chr11:17300662..17302728-chr11:17307021..17310347,3	K562	blood:

Extended variants
information (count: 2 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs397849437	chr11:17301349-17301350	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
2	rs34261908	chr11:17301350-17301351	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a

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
small cell lung cancer	20016488	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
T-cell prolymphocytic leukemia	19278963	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17298000-17302000	Active TSS	Thymus	Thymus
2	chr11:17299000-17301400	Weak transcription	Pancreas	Pancrea
3	chr11:17299000-17301600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr11:17299000-17302200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:17299000-17307200	Weak transcription	Left Ventricle	heart
6	chr11:17299000-17307400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr11:17299000-17307600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:17299000-17307600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr11:17299000-17307600	Weak transcription	Lung	lung
10	chr11:17299000-17316200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:17299000-17320000	Weak transcription	Esophagus	oesophagus
12	chr11:17299000-17323200	Weak transcription	Ovary	ovary
13	chr11:17299000-17323400	Weak transcription	Aorta	Aorta
14	chr11:17299000-17357200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr11:17299000-17357600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:17299000-17360600	Weak transcription	Small Intestine	intestine
17	chr11:17299200-17301400	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr11:17299200-17301400	Weak transcription	Stomach Mucosa	stomach
19	chr11:17299200-17301800	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr11:17299200-17302200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr11:17299200-17302200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr11:17299200-17302400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr11:17299200-17305600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr11:17299200-17305600	Weak transcription	Fetal Stomach	stomach
25	chr11:17299200-17306000	Weak transcription	Placenta	Placenta
26	chr11:17299200-17307400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr11:17299200-17307400	Weak transcription	Fetal Muscle Leg	muscle
28	chr11:17299200-17307600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr11:17299200-17307600	Weak transcription	Psoas Muscle	Psoas
30	chr11:17299200-17307600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr11:17299200-17307600	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr11:17299200-17310400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr11:17299200-17317800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr11:17299200-17317800	Weak transcription	Right Ventricle	heart
35	chr11:17299200-17319800	Weak transcription	Fetal Intestine Small	intestine
36	chr11:17299200-17325600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr11:17299200-17329600	Weak transcription	Brain Hippocampus Middle	brain
38	chr11:17299200-17357000	Weak transcription	Brain Substantia Nigra	brain
39	chr11:17299400-17301400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr11:17299400-17301600	Enhancers	Fetal Heart	heart
41	chr11:17299400-17301800	Weak transcription	HepG2	liver
42	chr11:17299400-17304400	Weak transcription	Fetal Lung	lung
43	chr11:17299400-17304600	Weak transcription	Adipose Nuclei	Adipose
44	chr11:17299400-17304600	Weak transcription	Colon Smooth Muscle	Colon
45	chr11:17299400-17304800	Weak transcription	Liver	Liver
46	chr11:17299400-17304800	Weak transcription	Brain Anterior Caudate	brain
47	chr11:17299400-17305000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr11:17299400-17306200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr11:17299400-17306400	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr11:17299400-17307200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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