Variant report

Variant	esv2763449
Chromosome Location	chr5:36448895-36464374
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:36438756..36441045-chr5:36448106..36450259,2	MCF-7	breast:
2	chr5:36433442..36435493-chr5:36455039..36456735,2	K562	blood:
3	chr5:36457469..36459383-chr5:36460695..36462337,2	MCF-7	breast:
4	chr5:36457469..36459383-chr5:36460695..36462337,2	MCF-7	breast:
5	chr5:36448840..36449624-chr7:156724028..156724917,2	MCF-7	breast:
6	chr5:36391426..36394057-chr5:36449010..36450884,2	K562	blood:

Extended variants
information (count: 664 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:664 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2468504	chr5:36448895-36448896	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs143322448	chr5:36448900-36448901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528579938	chr5:36448904-36448905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs386687231	chr5:36448916-36448917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568463807	chr5:36448936-36448937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537015605	chr5:36448944-36448945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555003893	chr5:36448945-36448946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs370632267	chr5:36448948-36448949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs5867323	chr5:36448994-36448995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192218997	chr5:36449061-36449062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570608599	chr5:36449079-36449080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568527264	chr5:36449080-36449081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs60250007	chr5:36449252-36449253	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs76058109	chr5:36449279-36449280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs62356880	chr5:36449304-36449305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541504775	chr5:36449403-36449404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs13358757	chr5:36449409-36449410	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs575201953	chr5:36449460-36449461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs112359340	chr5:36449476-36449477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs564055005	chr5:36449484-36449485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568204071	chr5:36449492-36449493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2468506	chr5:36449552-36449553	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs572850780	chr5:36449578-36449579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs112661975	chr5:36449607-36449608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs10067251	chr5:36449612-36449613	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs548678121	chr5:36449618-36449619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs2468507	chr5:36449620-36449621	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs115673574	chr5:36449694-36449695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550697885	chr5:36449734-36449735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs184548460	chr5:36449772-36449773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs539333489	chr5:36449787-36449788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs2468508	chr5:36449809-36449810	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs189316849	chr5:36449858-36449859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs543947774	chr5:36449872-36449873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs368289068	chr5:36449918-36449919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs535241156	chr5:36449958-36449959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs138200781	chr5:36449974-36449975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575244237	chr5:36449975-36449976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs111432282	chr5:36449976-36449977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557451769	chr5:36449991-36449992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs114358309	chr5:36450052-36450053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs142793910	chr5:36450053-36450054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs368581161	chr5:36450087-36450088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs560052923	chr5:36450094-36450095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs573486420	chr5:36450097-36450098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535811854	chr5:36450101-36450102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs10061999	chr5:36450102-36450103	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs370225082	chr5:36450128-36450129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs571319845	chr5:36450129-36450130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536253522	chr5:36450183-36450184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Myofibroblastic sarcoma	19369631	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	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
prenatal diagnosis	22389664	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
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-small cell lung cancer	19010865	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
Medulloblastoma	19270706	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Lung cancer	19153074	CNVD
Breast cancer	21364760	CNVD
Cornelia de Lange syndrome	21085971	CNVD
Autism	21701786	CNVD
Cervical cancer	16585170	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	21147910	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:167 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36444400-36451800	Weak transcription	Fetal Kidney	kidney
2	chr5:36445000-36450400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:36445000-36451000	Weak transcription	HSMMtube	muscle
4	chr5:36445200-36450200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr5:36445400-36449200	Weak transcription	HMEC	breast
6	chr5:36445400-36450400	Weak transcription	HSMM	muscle
7	chr5:36445400-36450400	Weak transcription	NH-A	brain
8	chr5:36445600-36449200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:36445600-36449800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:36445600-36450200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:36445600-36450400	Weak transcription	Osteobl	bone
12	chr5:36445800-36450600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:36445800-36452400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr5:36445800-36462800	Weak transcription	Esophagus	oesophagus
15	chr5:36446400-36452000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr5:36446600-36452400	Weak transcription	Placenta	Placenta
17	chr5:36447800-36450600	Enhancers	NHEK	skin
18	chr5:36448000-36452600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr5:36448000-36453800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:36448600-36450200	Weak transcription	Hela-S3	cervix
21	chr5:36448800-36449800	Weak transcription	Stomach Mucosa	stomach
22	chr5:36449200-36452200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr5:36449200-36452800	Enhancers	HMEC	breast
24	chr5:36449800-36451200	Enhancers	Stomach Mucosa	stomach
25	chr5:36449800-36453800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr5:36450200-36451000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr5:36450200-36451200	Enhancers	Muscle Satellite Cultured Cells	--
28	chr5:36450200-36453600	Enhancers	Hela-S3	cervix
29	chr5:36450400-36450600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr5:36450400-36451000	Enhancers	NH-A	brain
31	chr5:36450400-36451000	Enhancers	NHDF-Ad	bronchial
32	chr5:36450400-36451200	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr5:36450400-36451200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr5:36450400-36452000	Enhancers	Osteobl	bone
35	chr5:36450400-36452800	Enhancers	HSMM	muscle
36	chr5:36450600-36450800	Flanking Active TSS	NHEK	skin
37	chr5:36450600-36451600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr5:36450600-36456800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr5:36450800-36451000	Enhancers	NHEK	skin
40	chr5:36451000-36451200	Flanking Active TSS	NHEK	skin
41	chr5:36451000-36451800	Enhancers	HSMMtube	muscle
42	chr5:36451000-36452000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr5:36451200-36452600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr5:36451200-36452600	Enhancers	NHEK	skin
45	chr5:36451800-36452400	Enhancers	Fetal Kidney	kidney
46	chr5:36451800-36457600	Weak transcription	HSMMtube	muscle
47	chr5:36452000-36452200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr5:36452000-36453600	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr5:36452000-36457400	Weak transcription	Osteobl	bone
50	chr5:36452200-36452400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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