Variant report

Variant	esv2273286
Chromosome Location	chr16:31148723-31149363
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr16:31149160-31149259	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:31031305..31033689-chr16:31149101..31150806,2	MCF-7	breast:
2	chr16:31146490..31149050-chr16:31153299..31154926,2	K562	blood:
3	chr16:31083033..31088054-chr16:31143674..31155673,17	MCF-7	breast:
4	chr16:31147040..31149884-chr16:31151495..31154032,4	K562	blood:
5	chr16:31149322..31163059-chr16:31188531..31198512,46	MCF-7	breast:

No data

Variant related genes	Relation type
PRSS8	TF binding region
ENSG00000167395	chromatin interactions
ENSG00000178226	chromatin interactions
ENSG00000260304	chromatin interactions
ENSG00000089280	chromatin interactions
ENSG00000167394	chromatin interactions

Extended variants
information (count: 20 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145534987	chr16:31148787-31148788	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs148849989	chr16:31148866-31148867	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs539659238	chr16:31148924-31148925	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs187105134	chr16:31148950-31148951	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs201924464	chr16:31148960-31148961	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs371991861	chr16:31148973-31148974	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs545538737	chr16:31149004-31149005	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs57473339	chr16:31149005-31149006	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs191506797	chr16:31149006-31149007	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs141391022	chr16:31149130-31149131	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs9972727	chr16:31149142-31149143	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs374299146	chr16:31149169-31149170	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs146204108	chr16:31149217-31149218	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs183820714	chr16:31149253-31149254	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs565896700	chr16:31149272-31149273	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs188760830	chr16:31149316-31149317	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs551557036	chr16:31149317-31149318	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs556085892	chr16:31149334-31149335	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs115767202	chr16:31149345-31149346	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs537576674	chr16:31149360-31149361	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:117)

Disease	PMID	Source
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	17603634	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	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Mental retardation	19951919	CNVD
Colorectal cancer	16272173	CNVD
Bladder cancer	21909424	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21990379	CNVD
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	22499536	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	22513405	CNVD
Autism	22958593	CNVD
Autism	18184952	CNVD
Autism	19966786	CNVD
Autism	21394203	CNVD
Autism	21969575	CNVD
Autism	22241247	CNVD
Autism	20970697	CNVD
Autism	20942916	CNVD
Epilepsy	20970697	CNVD
Intellectual disability	22045946	CNVD
Mental retardation	19966786	CNVD
Developmental delay	20808231	CNVD
Obesity	20808231	CNVD
Autism	18923514	CNVD
Obesity	21881559	CNVD
Obesity	21956041	CNVD
Autism	20659124	CNVD
Mental retardation	21062444	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	22885689	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	20970697	CNVD
Schizophrenia	20433910	CNVD
Schizophrenia	22241247	CNVD
Autism	19242545	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Intracranial ependymoma	16609018	CNVD
Schizophrenia	21399695	CNVD
Autism	21956041	CNVD
Disorders of sex development	21048976	CNVD
Autism	22067053	CNVD
Autism	18156158	CNVD
Mental retardation	20152051	CNVD
Autism	19218893	CNVD
Autism	21289514	CNVD
Schizophrenia	19855392	CNVD
neurodevelopmental Syndrome	20503337	CNVD
Benign familial neonatal-infantile seizures	21060786	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Cancer	21183584	CNVD
Low-grade fibromyxoid sarcoma	21536545	CNVD
Breast cancer	21045282	CNVD
Neuroblastoma	20406844	CNVD
Autism	19050728	CNVD
Epilepsy	20923578	CNVD
Psychiatric disorder	19050728	CNVD
Schizophrenia	19348701	CNVD
Attention deficit hyperactivity disorder	19097825	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	19571808	CNVD
Breast cancer	20409316	CNVD
Severe combined immunodeficiency	19097825	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Autism	18522746	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic myeloid leukemia	21384125	CNVD
Prostate cancer	18632612	CNVD

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31130400-31153000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr16:31135800-31153000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr16:31139400-31153200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr16:31140400-31152800	Weak transcription	GM12878-XiMat	blood
5	chr16:31141400-31149600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr16:31141400-31149800	Weak transcription	HSMMtube	muscle
7	chr16:31141800-31149800	Weak transcription	HSMM	muscle
8	chr16:31142200-31153200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr16:31142800-31150200	Weak transcription	Psoas Muscle	Psoas
10	chr16:31143000-31153200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr16:31143400-31150200	Weak transcription	Aorta	Aorta
12	chr16:31143600-31150000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr16:31143600-31153200	Weak transcription	Primary T cells from cord blood	blood
14	chr16:31143800-31149800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr16:31143800-31153000	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr16:31143800-31153400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr16:31144000-31152800	Weak transcription	Ovary	ovary
18	chr16:31144000-31153200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr16:31144200-31152400	Weak transcription	Dnd41	blood
20	chr16:31144200-31153000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr16:31144400-31153000	Weak transcription	Primary B cells from peripheral blood	blood
22	chr16:31144400-31153000	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr16:31144600-31152400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr16:31144600-31152600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr16:31144800-31152800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr16:31144800-31152800	Weak transcription	Thymus	Thymus
27	chr16:31144800-31153200	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr16:31144800-31153600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr16:31145200-31152800	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr16:31145800-31149800	Weak transcription	Spleen	Spleen
31	chr16:31145800-31152000	Weak transcription	NHLF	lung
32	chr16:31145800-31153000	Weak transcription	Brain Cingulate Gyrus	brain
33	chr16:31146400-31149600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr16:31146400-31149600	Weak transcription	Left Ventricle	heart
35	chr16:31146400-31149600	Weak transcription	Right Atrium	heart
36	chr16:31146400-31149600	Weak transcription	Right Ventricle	heart
37	chr16:31146400-31149800	Weak transcription	Osteobl	bone
38	chr16:31146400-31153000	Weak transcription	Brain Substantia Nigra	brain
39	chr16:31146600-31149600	Weak transcription	NH-A	brain
40	chr16:31146600-31152000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr16:31147000-31150400	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr16:31147200-31151800	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr16:31147200-31152000	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr16:31147400-31149400	Weak transcription	Hela-S3	cervix
45	chr16:31147400-31149600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr16:31147400-31149600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr16:31147400-31149600	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr16:31147400-31149600	Weak transcription	Fetal Heart	heart
49	chr16:31147400-31149600	Weak transcription	A549	lung
50	chr16:31147400-31149800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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