Variant report

Variant	esv3379292
Chromosome Location	chr16:75253872-75254172
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	IRF1	chr16:75253819-75254019	K562	blood:	n/a	n/a
2	IRF1	chr16:75253701-75254078	K562	blood:	n/a	n/a
3	RUNX3	chr16:75253713-75254038	GM12878	blood:	n/a	n/a
4	RUNX3	chr16:75253809-75254018	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:75251309..75253963-chr16:75256152..75258523,2	K562	blood:

Variant related genes	Relation type
CTRB1	TF binding region
ENSG00000168925	chromatin interactions

Extended variants
information (count: 27 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557268042	chr16:75253874-75253875	Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs138844302	chr16:75253880-75253881	Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs11275637	chr16:75253885-75253886	Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs576127337	chr16:75253889-75253890	Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs541544453	chr16:75253897-75253898	Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs561374021	chr16:75253912-75253913	Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs529994333	chr16:75253917-75253918	Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs112651495	chr16:75253950-75253951	Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs149298631	chr16:75253981-75253982	Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs6564240	chr16:75254001-75254002	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs557265196	chr16:75254002-75254003	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs549990446	chr16:75254006-75254007	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs143688564	chr16:75254018-75254019	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs529419947	chr16:75254021-75254022	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs549523383	chr16:75254031-75254032	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs368693338	chr16:75254042-75254043	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs372312750	chr16:75254043-75254044	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs371297918	chr16:75254044-75254045	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs57482850	chr16:75254057-75254058	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs566144623	chr16:75254063-75254064	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs12446696	chr16:75254068-75254069	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs189345293	chr16:75254069-75254070	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs80038049	chr16:75254080-75254081	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563039725	chr16:75254082-75254083	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs537333457	chr16:75254090-75254091	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs575221444	chr16:75254094-75254095	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs557566191	chr16:75254143-75254144	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

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
Epilepsy	20502679	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75246800-75261000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr16:75249400-75254000	Enhancers	Placenta	Placenta
3	chr16:75250200-75254000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr16:75251400-75256200	Weak transcription	Right Atrium	heart
5	chr16:75251600-75261600	Weak transcription	HMEC	breast
6	chr16:75252200-75254000	Enhancers	Brain Substantia Nigra	brain
7	chr16:75252200-75255000	Active TSS	Pancreas	Pancrea
8	chr16:75252600-75254000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr16:75252600-75258200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr16:75252600-75262000	Weak transcription	Brain Angular Gyrus	brain
11	chr16:75252800-75254600	Enhancers	Fetal Thymus	thymus
12	chr16:75253000-75254000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr16:75253000-75254600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
14	chr16:75253000-75256000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr16:75253200-75254000	Enhancers	Fetal Brain Male	brain
16	chr16:75253200-75256000	Weak transcription	Fetal Muscle Leg	muscle
17	chr16:75253200-75256200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr16:75253200-75261800	Weak transcription	Brain Anterior Caudate	brain
19	chr16:75253200-75263400	Weak transcription	HSMMtube	muscle
20	chr16:75253400-75254000	Flanking Active TSS	Dnd41	blood
21	chr16:75253400-75254200	Active TSS	Primary T helper naive cells from peripheral blood	blood
22	chr16:75253400-75261000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr16:75253400-75261400	Weak transcription	HSMM	muscle
24	chr16:75253600-75254000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr16:75253600-75254000	Active TSS	Primary hematopoietic stem cells	blood
26	chr16:75253600-75254000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
27	chr16:75253600-75254000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr16:75253600-75254000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr16:75253600-75254000	Flanking Active TSS	GM12878-XiMat	blood
30	chr16:75253600-75254000	Bivalent/Poised TSS	HepG2	liver
31	chr16:75253600-75254000	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
32	chr16:75253600-75254000	Active TSS	NHDF-Ad	bronchial
33	chr16:75253600-75254200	Active TSS	Primary T cells fromperipheralblood	blood
34	chr16:75253600-75254200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
35	chr16:75253600-75254200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr16:75253600-75254400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
37	chr16:75253600-75254400	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr16:75253800-75254000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr16:75253800-75254000	Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr16:75253800-75254000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr16:75253800-75254000	Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr16:75253800-75254000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr16:75253800-75254000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr16:75253800-75254000	Enhancers	NH-A	brain
45	chr16:75253800-75254200	Active TSS	Primary T cells from cord blood	blood
46	chr16:75253800-75254600	Enhancers	Thymus	Thymus
47	chr16:75254000-75254600	Enhancers	Dnd41	blood
48	chr16:75254000-75254600	Enhancers	GM12878-XiMat	blood
49	chr16:75254000-75256200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr16:75254000-75261400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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