Variant report

Variant	esv1729676
Chromosome Location	chr16:70284041-70284047
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:70278247..70283453-chr16:70284015..70287841,6	MCF-7	breast:
2	chr16:70283799..70285737-chr6:44213868..44216847,2	K562	blood:
3	chr16:70283970..70285913-chr16:70380669..70382950,2	K562	blood:
4	chr16:70283625..70285831-chr16:70321379..70323186,2	K562	blood:
5	chr16:70191657..70193675-chr16:70283732..70285560,2	K562	blood:

Variant related genes	Relation type
ENSG00000261556	chromatin interactions
ENSG00000168872	chromatin interactions
ENSG00000096384	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 71 )

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	rs56219561	chr16:70284042-70284043	Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
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
Autism	22495311	CNVD
Wilms tumour	21544195	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
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	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
T-cell prolymphocytic leukemia	17713554	CNVD
Acute myeloid leukemia	16864856	CNVD
Infiltrating lobular breast cancer	19191266	CNVD
T-cell lymphomas	19863542	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	21909424	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21806811	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Autism	20841430	CNVD
Ependymoma	20639864	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70232400-70284800	Weak transcription	Spleen	Spleen
2	chr16:70235600-70284200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr16:70237200-70284800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr16:70238600-70284800	Weak transcription	Esophagus	oesophagus
5	chr16:70249000-70284800	Weak transcription	Brain Hippocampus Middle	brain
6	chr16:70249600-70284200	Weak transcription	Brain Substantia Nigra	brain
7	chr16:70251000-70284200	Weak transcription	Placenta	Placenta
8	chr16:70252600-70284200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr16:70254600-70284200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr16:70259200-70284200	Weak transcription	Gastric	stomach
11	chr16:70259400-70284600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr16:70259600-70284200	Weak transcription	Pancreas	Pancrea
13	chr16:70260800-70284200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr16:70261800-70284200	Weak transcription	Thymus	Thymus
15	chr16:70261800-70284800	Weak transcription	Lung	lung
16	chr16:70265400-70284800	Weak transcription	HSMMtube	muscle
17	chr16:70267800-70284200	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr16:70268000-70284200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr16:70268000-70284200	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr16:70269400-70284200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr16:70275600-70284800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr16:70276200-70284200	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr16:70280400-70284800	Weak transcription	Psoas Muscle	Psoas
24	chr16:70280800-70284200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr16:70281600-70284800	Enhancers	Primary T cells fromperipheralblood	blood
26	chr16:70282000-70284200	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr16:70282400-70284600	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr16:70282400-70284800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr16:70282600-70284800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr16:70283000-70284200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr16:70283000-70284200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr16:70283000-70284200	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr16:70283000-70284200	Enhancers	Adipose Nuclei	Adipose
34	chr16:70283000-70284400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr16:70283000-70284600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr16:70283000-70284600	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr16:70283000-70284600	Enhancers	Primary B cells from cord blood	blood
38	chr16:70283000-70284600	Enhancers	Small Intestine	intestine
39	chr16:70283000-70284800	Enhancers	Primary B cells from peripheral blood	blood
40	chr16:70283000-70284800	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr16:70283000-70285800	Active TSS	GM12878-XiMat	blood
42	chr16:70283200-70284200	Enhancers	Liver	Liver
43	chr16:70283200-70284200	Weak transcription	Right Atrium	heart
44	chr16:70283200-70284400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr16:70283200-70284600	Enhancers	Fetal Muscle Trunk	muscle
46	chr16:70283400-70284200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr16:70283400-70284200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr16:70283400-70284200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr16:70283400-70284200	Enhancers	Fetal Lung	lung
50	chr16:70283400-70284200	Enhancers	Fetal Thymus	thymus

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