Variant report

Variant	esv1096287
Chromosome Location	chr16:72109732-72109733
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	chr16:72107601..72110331-chr16:72118448..72121540,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260252	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 66 )

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	rs71391435	chr16:72109732-72109733	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs34334289	chr16:72109733-72109734	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21899760	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
Melanoma	22183965	CNVD
Neuroblastoma	18923524	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72060200-72110600	Weak transcription	Esophagus	oesophagus
2	chr16:72090200-72118400	Weak transcription	Lung	lung
3	chr16:72093200-72118000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr16:72093800-72118400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr16:72093800-72118400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr16:72094800-72110600	Weak transcription	Spleen	Spleen
7	chr16:72095800-72111800	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr16:72096800-72118200	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr16:72097200-72118000	Weak transcription	Primary B cells from peripheral blood	blood
10	chr16:72099200-72111800	Weak transcription	Primary T cells from cord blood	blood
11	chr16:72102800-72118400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr16:72103600-72110600	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr16:72104200-72117800	Weak transcription	Thymus	Thymus
14	chr16:72104800-72117800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr16:72106400-72118200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr16:72106600-72126400	Weak transcription	Small Intestine	intestine
17	chr16:72106800-72112000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr16:72106800-72117800	Weak transcription	Fetal Intestine Small	intestine
19	chr16:72106800-72118000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr16:72107000-72118200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr16:72107000-72118200	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr16:72107200-72110800	Strong transcription	Liver	Liver
23	chr16:72107600-72111600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr16:72107600-72117800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr16:72108000-72118000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr16:72108000-72118000	Weak transcription	Psoas Muscle	Psoas
27	chr16:72108000-72126400	Weak transcription	Fetal Heart	heart
28	chr16:72108200-72118000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr16:72108200-72118000	Weak transcription	Adipose Nuclei	Adipose
30	chr16:72108200-72118000	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr16:72108200-72118400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr16:72108200-72118400	Weak transcription	Fetal Brain Female	brain
33	chr16:72108400-72111800	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr16:72108400-72117800	Weak transcription	Primary B cells from cord blood	blood
35	chr16:72108400-72118400	Weak transcription	Brain Anterior Caudate	brain
36	chr16:72108400-72118400	Weak transcription	Fetal Muscle Leg	muscle
37	chr16:72108400-72118400	Weak transcription	Right Ventricle	heart
38	chr16:72108400-72118600	Weak transcription	Colon Smooth Muscle	Colon
39	chr16:72108400-72119000	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr16:72108600-72111400	Weak transcription	Ovary	ovary
41	chr16:72108600-72111800	Weak transcription	Fetal Stomach	stomach
42	chr16:72108600-72117800	Weak transcription	Brain Angular Gyrus	brain
43	chr16:72108600-72118400	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr16:72108600-72118400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr16:72108600-72118400	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr16:72108800-72110400	Weak transcription	Stomach Smooth Muscle	stomach
47	chr16:72108800-72110400	Weak transcription	HepG2	liver
48	chr16:72108800-72117800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr16:72108800-72118200	Weak transcription	Brain Substantia Nigra	brain
50	chr16:72108800-72118400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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