Variant report

Variant	esv1330744
Chromosome Location	chr16:64944373-64944375
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2 )
Associated
traits (count: 70 )

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	rs71376744	chr16:64944373-64944374	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs35215048	chr16:64944374-64944375	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Hodgkin''s lymphoma	17606441	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	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
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Infertility	21528002	CNVD
Breast cancer	21806811	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Neurodevelopmental disorder	22521361	CNVD
Glioblastoma multiforme	22286061	CNVD
Autism	18414403	CNVD
Breast cancer	20409316	CNVD
Chordoma	18071362	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Ovarian cancer	21720365	CNVD
Leiomyosarcoma	16982739	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:64943200-64944800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr16:64943400-64944800	Enhancers	Ovary	ovary
3	chr16:64943600-64944600	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr16:64943800-64944400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr16:64943800-64944600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr16:64943800-64944600	Enhancers	Fetal Muscle Leg	muscle
7	chr16:64943800-64944600	Enhancers	NH-A	brain
8	chr16:64943800-64944800	Enhancers	NHDF-Ad	bronchial
9	chr16:64943800-64945000	Enhancers	Fetal Lung	lung
10	chr16:64943800-64945000	Enhancers	HSMMtube	muscle
11	chr16:64944000-64944400	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr16:64944000-64944400	Enhancers	Aorta	Aorta
13	chr16:64944000-64944400	Enhancers	HSMM	muscle
14	chr16:64944000-64944400	Flanking Active TSS	Osteobl	bone
15	chr16:64944000-64944600	Enhancers	Adipose Nuclei	Adipose
16	chr16:64944000-64944800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
17	chr16:64944000-64944800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr16:64944000-64944800	Enhancers	NHLF	lung
19	chr16:64944000-64945000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr16:64944200-64944400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr16:64944200-64944600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr16:64944200-64944600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr16:64944200-64944600	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr16:64944200-64944800	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr16:64944200-64944800	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr16:64944200-64944800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr16:64944200-64944800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr16:64944200-64944800	Enhancers	Fetal Stomach	stomach
29	chr16:64944200-64944800	Enhancers	Stomach Smooth Muscle	stomach
30	chr16:64944200-64945000	Enhancers	Fetal Brain Male	brain

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