Variant report

Variant	esv1661689
Chromosome Location	chr16:46826995-46826996
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	chr16:46826593..46829284-chr16:46831194..46833933,2	K562	blood:

Extended variants
information (count: 2 )
Associated
traits (count: 60 )

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	rs78560091	chr16:46826995-46826996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs398029247	chr16:46826996-46826997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164920	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Autism	19955444	CNVD
Schizophrenia	19955444	CNVD
Renal cell carcinoma	18765545	CNVD
Sudden cardiac death	19188705	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21364760	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46822600-46827400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr16:46824200-46839600	Weak transcription	HSMM	muscle
3	chr16:46824400-46828600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr16:46824400-46831200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr16:46824400-46837400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr16:46824400-46839800	Weak transcription	Gastric	stomach
7	chr16:46824400-46846800	Weak transcription	Left Ventricle	heart
8	chr16:46824400-46847200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr16:46824600-46827200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr16:46824600-46827400	Weak transcription	Brain Germinal Matrix	brain
11	chr16:46824600-46828600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr16:46824600-46828800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr16:46824600-46829400	Weak transcription	Fetal Kidney	kidney
14	chr16:46824600-46830200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr16:46824600-46830600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr16:46824600-46836600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr16:46824600-46839400	Weak transcription	NHLF	lung
18	chr16:46824600-46843200	Weak transcription	HUVEC	blood vessel
19	chr16:46824600-46843600	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr16:46824600-46843800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr16:46824600-46856000	Weak transcription	Ovary	ovary
22	chr16:46824600-46863800	Weak transcription	Aorta	Aorta
23	chr16:46824800-46836600	Weak transcription	Esophagus	oesophagus
24	chr16:46824800-46843400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr16:46824800-46843600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr16:46824800-46843600	Weak transcription	NH-A	brain
27	chr16:46824800-46843600	Weak transcription	Osteobl	bone
28	chr16:46825000-46855200	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr16:46825200-46840800	Weak transcription	Hela-S3	cervix
30	chr16:46825400-46843400	Weak transcription	K562	blood
31	chr16:46826800-46827400	Weak transcription	Fetal Intestine Small	intestine

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