Variant report

Variant	esv2068052
Chromosome Location	chr16:79805485-79805486
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	RFX5	chr16:79803164-79806271	SK-N-SH	brain:	n/a	chr16:79804613-79804622 chr16:79804610-79804625 chr16:79804611-79804625
2	RFX5	chr16:79803991-79805658	K562	blood:	n/a	chr16:79804613-79804622 chr16:79804610-79804625 chr16:79804611-79804625
3	ZMIZ1	chr16:79803430-79805584	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000261390	TF binding region

Extended variants
information (count: 2 )
Associated
traits (count: 69 )

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	rs563121491	chr16:79805485-79805486	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs4243180	chr16:79805486-79805487	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:69)

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
Breast cancer	17603634	CNVD
Prostate cancer	16573809	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 lymphoblastic leukemia	20067559	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Adrenocortical carcinoma	18281524	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Hypoplastic left heart syndrome	22349727	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	21865298	CNVD
Schizophrenia	21346763	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79804800-79805600	Flanking Active TSS	K562	blood
2	chr16:79805000-79805600	Enhancers	Colonic Mucosa	Colon
3	chr16:79805000-79806000	Enhancers	Fetal Thymus	thymus
4	chr16:79805000-79806200	Enhancers	Fetal Stomach	stomach
5	chr16:79805000-79806400	Enhancers	Fetal Lung	lung
6	chr16:79805000-79806600	Enhancers	Fetal Muscle Leg	muscle
7	chr16:79805000-79807400	Enhancers	Fetal Intestine Small	intestine
8	chr16:79805000-79807800	Enhancers	Fetal Intestine Large	intestine
9	chr16:79805000-79808800	Weak transcription	Esophagus	oesophagus
10	chr16:79805000-79809200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr16:79805000-79809400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr16:79805000-79810400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr16:79805200-79805600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr16:79805200-79805600	Enhancers	Fetal Kidney	kidney
15	chr16:79805200-79806000	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr16:79805200-79806200	Enhancers	Fetal Heart	heart
17	chr16:79805200-79806800	Enhancers	Colon Smooth Muscle	Colon
18	chr16:79805200-79806800	Enhancers	Duodenum Mucosa	Duodenum
19	chr16:79805200-79807000	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr16:79805200-79807000	Enhancers	Small Intestine	intestine
21	chr16:79805200-79808600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr16:79805200-79809000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr16:79805200-79809000	Weak transcription	NHEK	skin
24	chr16:79805200-79809200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr16:79805200-79809200	Weak transcription	HMEC	breast
26	chr16:79805200-79810000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr16:79805200-79810200	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr16:79805200-79810200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr16:79805200-79810200	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr16:79805200-79810200	Weak transcription	Brain Hippocampus Middle	brain
31	chr16:79805200-79810200	Weak transcription	NH-A	brain
32	chr16:79805400-79805600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr16:79805400-79805800	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr16:79805400-79809400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr16:79805400-79810200	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr16:79805400-79810200	Weak transcription	Adipose Nuclei	Adipose
37	chr16:79805400-79810200	Weak transcription	Thymus	Thymus
38	chr16:79805400-79810400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr16:79805400-79810400	Weak transcription	Brain Cingulate Gyrus	brain

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