Variant report

Variant	esv2116650
Chromosome Location	chr1:172916375-172916377
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	chr1:172909514..172913371-chr1:172916147..172919223,3	K562	blood:
2	chr1:172913673..172916975-chr1:172918949..172922757,3	K562	blood:

Extended variants
information (count: 1 )
Associated
traits (count: 90 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11808521	chr1:172916376-172916377	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172911200-172917000	Weak transcription	Fetal Stomach	stomach
2	chr1:172911200-172917600	Weak transcription	Fetal Lung	lung
3	chr1:172913600-172919200	Enhancers	HUVEC	blood vessel
4	chr1:172914600-172917800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:172915000-172917000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:172915000-172918000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:172915200-172924600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr1:172915400-172918600	Enhancers	Dnd41	blood
9	chr1:172915600-172917200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:172915800-172917000	Enhancers	Primary hematopoietic stem cells	blood
11	chr1:172915800-172917000	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr1:172915800-172917000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:172915800-172918800	Enhancers	NHDF-Ad	bronchial
14	chr1:172916000-172916600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:172916000-172916600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr1:172916000-172916600	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr1:172916000-172916600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr1:172916000-172916800	Enhancers	NHEK	skin
19	chr1:172916000-172917000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr1:172916000-172917000	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr1:172916000-172918600	Enhancers	Muscle Satellite Cultured Cells	--
22	chr1:172916000-172918600	Enhancers	NH-A	brain
23	chr1:172916000-172918800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:172916000-172918800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:172916200-172916600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
26	chr1:172916200-172916600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr1:172916200-172916800	Weak transcription	HSMMtube	muscle
28	chr1:172916200-172917400	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr1:172916200-172918200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:172916200-172918800	Enhancers	HSMM	muscle
31	chr1:172916200-172919000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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