Variant report

Variant	esv3471236
Chromosome Location	chr5:43516481-43516552
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:13)
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	MXI1	chr5:43513290-43516741	SK-N-SH	brain:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:43515581..43518178-chr5:43521503..43523427,2	K562	blood:
2	chr5:43513317..43518816-chr5:43554982..43559074,7	K562	blood:
3	chr5:43503310..43506193-chr5:43515154..43517411,2	MCF-7	breast:
4	chr5:43513317..43519979-chr5:43552519..43558793,19	K562	blood:
5	chr5:43313320..43315914-chr5:43513861..43516716,3	MCF-7	breast:
6	chr5:43481776..43485753-chr5:43513662..43518339,9	MCF-7	breast:
7	chr5:43512478..43519226-chr5:43552704..43558861,10	MCF-7	breast:
8	chr5:43515775..43517317-chr5:43528629..43530666,2	MCF-7	breast:
9	chr5:43513363..43516571-chr5:43601265..43603524,3	K562	blood:
10	chr5:43481800..43486706-chr5:43511486..43517226,18	K562	blood:
11	chr5:43513876..43516684-chr5:43553510..43558785,6	MCF-7	breast:
12	chr5:43502114..43510409-chr5:43511788..43516990,15	K562	blood:
13	chr5:43482660..43486669-chr5:43512252..43517355,11	K562	blood:

No data

Variant related genes	Relation type
C5orf34	TF binding region
ENSG00000112992	chromatin interactions
ENSG00000151881	chromatin interactions
ENSG00000112972	chromatin interactions
ENSG00000172244	chromatin interactions
ENSG00000249492	chromatin interactions
ENSG00000172239	chromatin interactions
ENSG00000248092	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 92 )

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	rs376725122	chr5:43516483-43516484	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	8 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
Breast cancer	22522925	CNVD

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43513800-43516600	Active TSS	GM12878-XiMat	blood
2	chr5:43515400-43523800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:43515400-43524000	Weak transcription	Spleen	Spleen
4	chr5:43515600-43523400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:43515600-43523800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:43515600-43523800	Weak transcription	Gastric	stomach
7	chr5:43515600-43533800	Weak transcription	Small Intestine	intestine
8	chr5:43515600-43534000	Weak transcription	Esophagus	oesophagus
9	chr5:43515800-43523400	Weak transcription	Lung	lung
10	chr5:43515800-43523800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr5:43515800-43523800	Weak transcription	Ovary	ovary
12	chr5:43515800-43525400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr5:43515800-43525600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr5:43516000-43519200	Weak transcription	Fetal Intestine Small	intestine
15	chr5:43516000-43523200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr5:43516000-43523200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr5:43516000-43523200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr5:43516000-43523200	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr5:43516000-43523400	Weak transcription	Primary T cells from cord blood	blood
20	chr5:43516000-43523400	Weak transcription	Fetal Brain Female	brain
21	chr5:43516000-43523400	Weak transcription	Left Ventricle	heart
22	chr5:43516000-43523400	Weak transcription	Psoas Muscle	Psoas
23	chr5:43516000-43523400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr5:43516000-43523800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr5:43516000-43523800	Weak transcription	Brain Germinal Matrix	brain
26	chr5:43516000-43523800	Weak transcription	Right Ventricle	heart
27	chr5:43516000-43524000	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr5:43516000-43524000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr5:43516000-43524000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr5:43516000-43524000	Weak transcription	Aorta	Aorta
31	chr5:43516000-43525000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:43516000-43525200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr5:43516000-43525200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr5:43516000-43525200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr5:43516000-43525200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr5:43516000-43525200	Weak transcription	Fetal Brain Male	brain
37	chr5:43516000-43525400	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr5:43516000-43525400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr5:43516000-43525400	Weak transcription	Rectal Smooth Muscle	rectum
40	chr5:43516000-43525600	Weak transcription	NHDF-Ad	bronchial
41	chr5:43516000-43527400	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr5:43516000-43528000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr5:43516000-43528200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr5:43516000-43529400	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr5:43516000-43533800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr5:43516000-43534000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr5:43516200-43523200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr5:43516200-43523200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr5:43516200-43523200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr5:43516200-43523200	Weak transcription	Primary B cells from cord blood	blood

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