Variant report

Variant	esv2578074
Chromosome Location	chr16:12654012-12654012
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr16:12653408-12654149	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:12646912..12648633-chr16:12652435..12654729,2	K562	blood:

Variant related genes	Relation type
ENSG00000259876	TF binding region

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	rs200628614	chr16:12654012-12654013	Weak transcription Strong transcription	TF binding region	1 gene(s)	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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12613000-12670800	Weak transcription	Pancreas	Pancrea
2	chr16:12632800-12663800	Weak transcription	Aorta	Aorta
3	chr16:12633400-12654400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr16:12639400-12659000	Weak transcription	Lung	lung
5	chr16:12641200-12667000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr16:12642000-12662200	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr16:12642200-12655000	Weak transcription	Spleen	Spleen
8	chr16:12643000-12659200	Weak transcription	Placenta	Placenta
9	chr16:12645200-12661600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr16:12646000-12655400	Weak transcription	Gastric	stomach
11	chr16:12646000-12659000	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr16:12646000-12661000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr16:12646200-12654800	Weak transcription	Primary T cells from cord blood	blood
14	chr16:12646200-12659800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr16:12646200-12660000	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr16:12646400-12659400	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr16:12646400-12660800	Weak transcription	Thymus	Thymus
18	chr16:12647400-12658800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr16:12647400-12662200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr16:12647400-12665200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr16:12647600-12661600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr16:12648000-12662200	Weak transcription	Fetal Stomach	stomach
23	chr16:12648400-12668800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr16:12648800-12659200	Weak transcription	Esophagus	oesophagus
25	chr16:12649000-12658600	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr16:12649800-12662200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr16:12652000-12654400	Weak transcription	GM12878-XiMat	blood
28	chr16:12652200-12660200	Strong transcription	Primary B cells from cord blood	blood
29	chr16:12652200-12669200	Weak transcription	Brain Cingulate Gyrus	brain
30	chr16:12652400-12658200	Strong transcription	Primary B cells from peripheral blood	blood
31	chr16:12652400-12666400	Weak transcription	Brain Anterior Caudate	brain
32	chr16:12652600-12665800	Weak transcription	Brain Angular Gyrus	brain
33	chr16:12652600-12672200	Weak transcription	Right Ventricle	heart
34	chr16:12652800-12663400	Weak transcription	Brain Substantia Nigra	brain
35	chr16:12653200-12659200	Weak transcription	Adipose Nuclei	Adipose
36	chr16:12653200-12662200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr16:12653200-12667600	Weak transcription	Brain Hippocampus Middle	brain
38	chr16:12653200-12669200	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr16:12653400-12659800	Weak transcription	Ovary	ovary
40	chr16:12653600-12659000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr16:12653600-12662400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr16:12653600-12662600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr16:12653600-12663200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr16:12653800-12662600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr16:12653800-12665800	Weak transcription	NHDF-Ad	bronchial

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