Variant report

Variant	esv275326
Chromosome Location	chr5:43762162-43775532
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:43765226..43767816-chr5:43768359..43770283,2	K562	blood:
2	chr5:43765226..43767816-chr5:43768359..43770283,2	K562	blood:

Extended variants
information (count: 237 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:237 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377562034	chr5:43762800-43762801	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs578017879	chr5:43762814-43762815	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs543703884	chr5:43762829-43762830	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs557397965	chr5:43762848-43762849	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs191925651	chr5:43762861-43762862	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs574034371	chr5:43762890-43762891	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs572370787	chr5:43762909-43762910	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs542799861	chr5:43762916-43762917	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs139084140	chr5:43762920-43762921	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs528712727	chr5:43762964-43762965	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs536739743	chr5:43762993-43762994	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs535826306	chr5:43769011-43769012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs569791262	chr5:43769021-43769022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs10044494	chr5:43769162-43769163	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs555243716	chr5:43769188-43769189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374344054	chr5:43769200-43769201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572318661	chr5:43769288-43769289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534873530	chr5:43769404-43769405	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558184624	chr5:43769448-43769449	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs34897533	chr5:43769475-43769476	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs573016835	chr5:43769479-43769480	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs34242811	chr5:43769505-43769506	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543971304	chr5:43769578-43769579	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191065998	chr5:43769601-43769602	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574183346	chr5:43769611-43769612	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543229982	chr5:43769627-43769628	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182725124	chr5:43769722-43769723	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10461747	chr5:43769741-43769742	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs528772319	chr5:43769751-43769752	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551613194	chr5:43769795-43769796	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371438689	chr5:43769809-43769810	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs187851401	chr5:43769848-43769849	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs375211805	chr5:43769849-43769850	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs192756787	chr5:43769857-43769858	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs569118346	chr5:43769879-43769880	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs77561308	chr5:43769887-43769888	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs535167614	chr5:43769913-43769914	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs375900988	chr5:43769948-43769949	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs549168284	chr5:43769996-43769997	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs565690091	chr5:43770035-43770036	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs534960860	chr5:43770042-43770043	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs558072398	chr5:43770084-43770085	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs376962691	chr5:43770085-43770086	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs377135408	chr5:43770089-43770090	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs372410102	chr5:43770090-43770091	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs578093877	chr5:43770093-43770094	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs537417326	chr5:43770134-43770135	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs557047684	chr5:43770170-43770171	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs147580123	chr5:43770171-43770172	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs74765826	chr5:43770172-43770173	Weak transcription Enhancers Active TSS	n/a	n/a	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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43762800-43763000	Active TSS	Spleen	Spleen
2	chr5:43769000-43774400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:43769000-43776000	Enhancers	Fetal Lung	lung
4	chr5:43769200-43769400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:43769200-43770800	Enhancers	Osteobl	bone
6	chr5:43769200-43772000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr5:43769400-43769600	Enhancers	Fetal Muscle Leg	muscle
8	chr5:43769400-43769800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:43769400-43769800	Enhancers	Muscle Satellite Cultured Cells	--
10	chr5:43769400-43769800	Enhancers	NHDF-Ad	bronchial
11	chr5:43769400-43770600	Enhancers	Adipose Nuclei	Adipose
12	chr5:43769400-43771200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:43769400-43771400	Enhancers	Fetal Stomach	stomach
14	chr5:43769600-43769800	Enhancers	Colon Smooth Muscle	Colon
15	chr5:43769600-43770000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:43769600-43770200	Weak transcription	Fetal Muscle Leg	muscle
17	chr5:43769800-43770200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:43769800-43770200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr5:43769800-43770200	Weak transcription	NHDF-Ad	bronchial
20	chr5:43769800-43770400	Active TSS	Colon Smooth Muscle	Colon
21	chr5:43769800-43770600	Enhancers	Rectal Smooth Muscle	rectum
22	chr5:43769800-43770800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr5:43770000-43772800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:43770200-43770400	Enhancers	Muscle Satellite Cultured Cells	--
25	chr5:43770200-43770600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:43770200-43770800	Enhancers	Fetal Muscle Leg	muscle
27	chr5:43770200-43771400	Enhancers	NHDF-Ad	bronchial
28	chr5:43770400-43770600	Flanking Active TSS	Colon Smooth Muscle	Colon
29	chr5:43770400-43772600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr5:43770600-43770800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr5:43770600-43771000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr5:43770600-43773200	Weak transcription	Colon Smooth Muscle	Colon
33	chr5:43770600-43774600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr5:43770800-43772400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:43770800-43772600	Weak transcription	Osteobl	bone
36	chr5:43770800-43773200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr5:43771000-43771400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr5:43771000-43773200	Enhancers	NHEK	skin
39	chr5:43771000-43775800	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr5:43771200-43771600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr5:43771200-43775200	Enhancers	HMEC	breast
42	chr5:43771400-43772000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr5:43771400-43773000	Weak transcription	NHDF-Ad	bronchial
44	chr5:43771400-43785000	Weak transcription	Fetal Stomach	stomach
45	chr5:43771600-43771800	Enhancers	HSMMtube	muscle
46	chr5:43771600-43772200	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr5:43771600-43774600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr5:43771600-43776000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr5:43771800-43772000	Enhancers	H1 Cell Line	embryonic stem cell
50	chr5:43771800-43772000	Enhancers	H9 Cell Line	embryonic stem cell

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