Variant report

Variant	esv1767219
Chromosome Location	chr16:12827941-12827945
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1 )
Associated
traits (count: 68 )

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	rs398028762	chr16:12827945-12827946	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	17603634	CNVD
Hodgkin''s lymphoma	20651079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Autism	22566537	CNVD
Intellectual disability	22566537	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
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
Lung cancer	18438408	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21509527	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22102821	CNVD
Autism	22495311	CNVD
idiopathic generalized epilepsy	19843651	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Intellectual disability	22102821	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Prostate cancer	18632612	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	19786961	CNVD
Mental retardation	19786961	CNVD
Schizophrenia	19786961	CNVD
Mental retardation	19951919	CNVD
Autism	18791038	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Malignant germ cell tumour	17285132	CNVD
Autism	17480035	CNVD
Schizophrenia	19955444	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	17847001	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12753400-12836000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr16:12798600-12836800	Weak transcription	Placenta	Placenta
3	chr16:12818400-12834400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr16:12824400-12829000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr16:12824600-12828200	Weak transcription	HSMMtube	muscle
6	chr16:12824800-12828600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr16:12824800-12847800	Weak transcription	Osteobl	bone
8	chr16:12825400-12829000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr16:12825600-12828800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr16:12825800-12833000	Weak transcription	Ovary	ovary
11	chr16:12826200-12828000	ZNF genes & repeats	HepG2	liver
12	chr16:12826200-12829000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
13	chr16:12826200-12830200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
14	chr16:12826600-12851000	Weak transcription	Brain Angular Gyrus	brain
15	chr16:12826800-12836400	Weak transcription	Left Ventricle	heart
16	chr16:12826800-12836800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr16:12826800-12838400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr16:12826800-12844200	Weak transcription	HUVEC	blood vessel
19	chr16:12827000-12832600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr16:12827000-12836400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr16:12827000-12836800	Weak transcription	Brain Anterior Caudate	brain
22	chr16:12827000-12838400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr16:12827200-12829200	Strong transcription	HSMM	muscle
24	chr16:12827200-12835000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr16:12827400-12828200	ZNF genes & repeats	Aorta	Aorta
26	chr16:12827600-12828200	Weak transcription	Esophagus	oesophagus
27	chr16:12827600-12831200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr16:12827600-12832800	Weak transcription	Primary B cells from cord blood	blood
29	chr16:12827600-12833600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr16:12827600-12833600	Weak transcription	Stomach Smooth Muscle	stomach
31	chr16:12827600-12836800	Weak transcription	Colon Smooth Muscle	Colon
32	chr16:12827800-12828400	Weak transcription	Duodenum Mucosa	Duodenum
33	chr16:12827800-12828600	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr16:12827800-12828600	Weak transcription	Liver	Liver
35	chr16:12827800-12831200	Weak transcription	Fetal Intestine Large	intestine
36	chr16:12827800-12831400	Weak transcription	Fetal Stomach	stomach
37	chr16:12827800-12832800	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr16:12827800-12834600	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr16:12827800-12835200	Weak transcription	Primary hematopoietic stem cells	blood
40	chr16:12827800-12838400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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