Variant report

Variant	esv3400117
Chromosome Location	chr5:43577845-43580993
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43580034..43581980-chr5:43601875..43603679,2	MCF-7	breast:
2	chr5:43482790..43485148-chr5:43578533..43581447,2	K562	blood:
3	chr5:43556567..43558867-chr5:43579199..43581062,3	MCF-7	breast:
4	chr5:43555603..43557203-chr5:43575638..43578155,2	K562	blood:
5	chr5:43578506..43581941-chr5:43601710..43604762,3	K562	blood:

Variant related genes	Relation type
ENSG00000172239	chromatin interactions
ENSG00000248092	chromatin interactions
ENSG00000151881	chromatin interactions
ENSG00000112992	chromatin interactions
ENSG00000249492	chromatin interactions

Extended variants
information (count: 126 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:126 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527923561	chr5:43577850-43577851	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs4377717	chr5:43577865-43577866	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs201154010	chr5:43577870-43577871	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs534910123	chr5:43577878-43577879	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs13164100	chr5:43577978-43577979	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs551525041	chr5:43577996-43577997	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs542055911	chr5:43578064-43578065	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs571618557	chr5:43578112-43578113	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs13164655	chr5:43578122-43578123	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs13164278	chr5:43578130-43578131	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs537302263	chr5:43578152-43578153	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs13184548	chr5:43578156-43578157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs13184549	chr5:43578159-43578160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557631935	chr5:43578171-43578172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569593241	chr5:43578207-43578208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574954469	chr5:43578233-43578234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs199624148	chr5:43578303-43578304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs367593826	chr5:43578334-43578335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559152311	chr5:43578350-43578351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368476124	chr5:43578375-43578376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372765197	chr5:43578383-43578384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535405831	chr5:43578387-43578388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563713605	chr5:43578395-43578396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555520557	chr5:43578411-43578412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12515081	chr5:43578412-43578413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113077088	chr5:43578422-43578423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572134739	chr5:43578428-43578429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541235115	chr5:43578468-43578469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557937015	chr5:43578542-43578543	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs550575391	chr5:43578600-43578601	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs577765022	chr5:43578617-43578618	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs543390946	chr5:43578619-43578620	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs200196194	chr5:43578631-43578632	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs28464187	chr5:43578648-43578649	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs201249342	chr5:43578649-43578650	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs10941643	chr5:43578749-43578750	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs559436994	chr5:43578752-43578753	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs10941644	chr5:43578786-43578787	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs528526115	chr5:43578806-43578807	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs551565473	chr5:43578811-43578812	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs199844942	chr5:43578812-43578813	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs531126259	chr5:43578821-43578822	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs10941645	chr5:43578825-43578826	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs551026785	chr5:43578826-43578827	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs375136330	chr5:43578833-43578834	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs368408469	chr5:43578843-43578844	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs372140006	chr5:43578870-43578871	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs10941646	chr5:43578874-43578875	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs567918371	chr5:43578923-43578924	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs535120050	chr5:43578942-43578943	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43557800-43584600	Weak transcription	Psoas Muscle	Psoas
2	chr5:43560200-43584400	Weak transcription	K562	blood
3	chr5:43564600-43580200	Weak transcription	Fetal Kidney	kidney
4	chr5:43565400-43579000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:43565400-43601800	Weak transcription	Fetal Thymus	thymus
6	chr5:43565600-43581800	Weak transcription	Dnd41	blood
7	chr5:43566200-43590400	Weak transcription	Thymus	Thymus
8	chr5:43566400-43580200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:43566800-43586000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr5:43567400-43602000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr5:43568000-43601800	Weak transcription	Primary B cells from peripheral blood	blood
12	chr5:43568000-43602400	Weak transcription	Pancreas	Pancrea
13	chr5:43568400-43581800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr5:43568600-43601800	Weak transcription	Fetal Brain Female	brain
15	chr5:43569000-43601400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr5:43569200-43591800	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr5:43570000-43582000	Weak transcription	Liver	Liver
18	chr5:43570200-43581600	Weak transcription	Left Ventricle	heart
19	chr5:43570200-43601800	Weak transcription	Right Ventricle	heart
20	chr5:43572000-43579600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr5:43572000-43591800	Weak transcription	Aorta	Aorta
22	chr5:43572000-43602400	Weak transcription	Ovary	ovary
23	chr5:43572400-43582600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr5:43572600-43583400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr5:43572800-43582000	Weak transcription	Colon Smooth Muscle	Colon
26	chr5:43572800-43584400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr5:43573000-43582200	Weak transcription	HSMMtube	muscle
28	chr5:43573000-43582400	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr5:43573000-43582600	Weak transcription	Adipose Nuclei	Adipose
30	chr5:43573000-43601800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr5:43573000-43601800	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr5:43573400-43581600	Weak transcription	Fetal Muscle Trunk	muscle
33	chr5:43573600-43583200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr5:43573800-43579000	Weak transcription	Fetal Intestine Large	intestine
35	chr5:43573800-43584600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr5:43574000-43579200	Weak transcription	Duodenum Mucosa	Duodenum
37	chr5:43574000-43580600	Weak transcription	Lung	lung
38	chr5:43574000-43581800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr5:43574000-43583800	Weak transcription	Brain Angular Gyrus	brain
40	chr5:43574000-43601800	Weak transcription	Brain Anterior Caudate	brain
41	chr5:43574200-43582000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr5:43574400-43579000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr5:43574400-43582600	Weak transcription	Fetal Lung	lung
44	chr5:43574400-43600800	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr5:43575000-43584800	Weak transcription	Brain Hippocampus Middle	brain
46	chr5:43575000-43589200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr5:43575000-43592400	Weak transcription	Brain Germinal Matrix	brain
48	chr5:43575000-43601400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr5:43575800-43590800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr5:43575800-43592800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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