Variant report

Variant	nsv316423
Chromosome Location	chr5:43043993-43043997
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:8)
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	POLR2A	chr5:43043643-43044191	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:43014739..43026335-chr5:43034830..43045515,33	MCF-7	breast:
2	chr5:43036901..43050217-chr5:43060442..43069391,53	MCF-7	breast:
3	chr5:43016691..43021968-chr5:43036071..43044426,17	MCF-7	breast:
4	chr5:43040708..43045055-chr5:43119670..43122847,6	K562	blood:
5	chr5:43037720..43044659-chr5:43062293..43069444,31	K562	blood:
6	chr5:43040123..43044169-chr5:43120216..43122879,6	K562	blood:
7	chr5:43034726..43053192-chr5:43061725..43074206,66	K562	blood:
8	chr5:43038662..43048059-chr5:43059399..43070773,40	MCF-7	breast:

No data

Variant related genes	Relation type
ANXA2R	TF binding region
ENSG00000251131	chromatin interactions
ENSG00000177738	chromatin interactions
ENSG00000172262	chromatin interactions
ENSG00000272144	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 92 )

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	rs111217568	chr5:43043995-43043996	Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs376939418	chr5:43043997-43043998	Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	21364760	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Lung cancer	21569311	CNVD
Autism	20531469	CNVD

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43037400-43045000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr5:43039400-43044800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:43039800-43044400	Active TSS	NHLF	lung
4	chr5:43039800-43044800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:43040000-43045000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:43040400-43045000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr5:43041800-43044400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:43042000-43044200	Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr5:43042200-43044400	Active TSS	Brain Anterior Caudate	brain
10	chr5:43043200-43044400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr5:43043200-43044400	Active TSS	Osteobl	bone
12	chr5:43043400-43044400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr5:43043600-43044000	Active TSS	Hela-S3	cervix
14	chr5:43043600-43044200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:43043600-43044200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr5:43043600-43044200	Active TSS	Muscle Satellite Cultured Cells	--
17	chr5:43043600-43044200	Enhancers	Colonic Mucosa	Colon
18	chr5:43043600-43044200	Weak transcription	Esophagus	oesophagus
19	chr5:43043600-43044200	Weak transcription	Lung	lung
20	chr5:43043600-43044200	Weak transcription	Spleen	Spleen
21	chr5:43043600-43044200	Active TSS	Dnd41	blood
22	chr5:43043600-43044200	Enhancers	NH-A	brain
23	chr5:43043600-43044400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr5:43043600-43044400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr5:43043600-43044400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr5:43043600-43044400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr5:43043600-43044400	Active TSS	Adipose Nuclei	Adipose
28	chr5:43043600-43044400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr5:43043600-43044400	Weak transcription	Brain Hippocampus Middle	brain
30	chr5:43043600-43044400	Weak transcription	Brain Substantia Nigra	brain
31	chr5:43043600-43044400	Weak transcription	Pancreas	Pancrea
32	chr5:43043600-43044400	Weak transcription	Psoas Muscle	Psoas
33	chr5:43043600-43044400	Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr5:43043600-43044400	Active TSS	HSMM	muscle
35	chr5:43043600-43044400	Weak transcription	K562	blood
36	chr5:43043600-43044600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr5:43043600-43050600	Weak transcription	GM12878-XiMat	blood
38	chr5:43043600-43052600	Weak transcription	A549	lung
39	chr5:43043600-43058200	Weak transcription	Gastric	stomach
40	chr5:43043600-43058200	Weak transcription	HSMMtube	muscle
41	chr5:43043600-43061600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr5:43043600-43063800	Weak transcription	Aorta	Aorta
43	chr5:43043600-43064000	Weak transcription	NHEK	skin
44	chr5:43043800-43044000	Enhancers	Primary hematopoietic stem cells	blood
45	chr5:43043800-43044000	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr5:43043800-43044200	Weak transcription	Primary B cells from peripheral blood	blood
47	chr5:43043800-43044200	Weak transcription	Primary T cells from cord blood	blood
48	chr5:43043800-43044200	Enhancers	Primary T cells fromperipheralblood	blood
49	chr5:43043800-43044200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr5:43043800-43044200	Weak transcription	Primary T helper cells PMA-I stimulated	--

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