Variant report

Variant	esv2124470
Chromosome Location	chr16:75486347-75486348
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:75467998..75470976-chr16:75484514..75486577,2	MCF-7	breast:
2	chr16:75486316..75489420-chr16:75490686..75493113,4	MCF-7	breast:
3	chr16:75484834..75486410-chr20:45987978..45990446,2	MCF-7	breast:
4	chr16:75482535..75486737-chr16:75496881..75499746,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166822	chromatin interactions
ENSG00000261717	chromatin interactions

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	rs9928232	chr16:75486347-75486348	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:68)

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
Ovarian clear cell carcinoma	21343371	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Poland''s syndrome	22110015	CNVD
Neuroblastoma	21899760	CNVD
Liver carcinoma	19366792	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	19156837	CNVD
Acute myeloid leukemia	17377590	CNVD
Breast cancer	20409316	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75468400-75489400	Weak transcription	Small Intestine	intestine
2	chr16:75468600-75487800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr16:75468600-75489800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr16:75468800-75486400	Weak transcription	Pancreas	Pancrea
5	chr16:75468800-75486400	Weak transcription	Right Atrium	heart
6	chr16:75468800-75486600	Weak transcription	HUVEC	blood vessel
7	chr16:75468800-75489200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr16:75468800-75493800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr16:75468800-75497000	Weak transcription	NHLF	lung
10	chr16:75469400-75486600	Weak transcription	K562	blood
11	chr16:75469400-75491000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr16:75469400-75497000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr16:75469400-75497400	Weak transcription	Psoas Muscle	Psoas
14	chr16:75473600-75496000	Weak transcription	HMEC	breast
15	chr16:75477000-75487000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr16:75477400-75494400	Weak transcription	NH-A	brain
17	chr16:75477800-75497000	Weak transcription	NHDF-Ad	bronchial
18	chr16:75478600-75486800	Weak transcription	Ovary	ovary
19	chr16:75479200-75487200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr16:75479400-75493800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr16:75479600-75486800	Weak transcription	Colon Smooth Muscle	Colon
22	chr16:75479800-75486400	Weak transcription	Fetal Heart	heart
23	chr16:75481000-75489600	Weak transcription	Colonic Mucosa	Colon
24	chr16:75481200-75486600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr16:75481800-75497600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr16:75482400-75486400	Strong transcription	Fetal Stomach	stomach
27	chr16:75482400-75494200	Weak transcription	GM12878-XiMat	blood
28	chr16:75482600-75486400	Weak transcription	Gastric	stomach
29	chr16:75483000-75486400	Weak transcription	Stomach Mucosa	stomach
30	chr16:75483200-75495800	Weak transcription	Fetal Brain Male	brain
31	chr16:75483600-75494200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr16:75483800-75496000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr16:75484000-75487800	Weak transcription	Osteobl	bone
34	chr16:75484000-75490800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr16:75484000-75496600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr16:75484000-75496800	Weak transcription	Primary hematopoietic stem cells	blood
37	chr16:75484600-75489800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr16:75485000-75486400	Weak transcription	Right Ventricle	heart
39	chr16:75485000-75489400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr16:75485000-75494400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr16:75485200-75489400	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr16:75485200-75490000	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr16:75485200-75493200	Weak transcription	Esophagus	oesophagus
44	chr16:75485400-75487800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr16:75485400-75493200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr16:75485400-75496800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr16:75485600-75487800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr16:75485600-75487800	Weak transcription	Adipose Nuclei	Adipose
49	chr16:75485600-75487800	Weak transcription	Spleen	Spleen
50	chr16:75485600-75488600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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