Variant report

Variant	esv2830148
Chromosome Location	chr5:2041665-2058143
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:2047496..2049550-chr5:2053975..2055514,2	MCF-7	breast:
2	chr5:2041732..2043505-chr5:2044212..2047095,2	K562	blood:
3	chr5:2038885..2040468-chr5:2043552..2045148,2	K562	blood:
4	chr5:2038798..2040363-chr5:2040372..2041930,2	MCF-7	breast:
5	chr5:2047496..2049550-chr5:2053975..2055514,2	MCF-7	breast:
6	chr5:1794019..1795658-chr5:2041608..2044062,2	MCF-7	breast:
7	chr5:1976483..1978834-chr5:2046754..2049581,2	MCF-7	breast:
8	chr5:2054218..2056491-chr5:2059261..2061663,2	K562	blood:
9	chr5:2038968..2041290-chr5:2043648..2046348,2	K562	blood:
10	chr5:2041732..2043505-chr5:2044212..2047095,2	K562	blood:

No data

Extended variants
information (count: 647 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:647 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4129455	chr5:2041665-2041666	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs375070361	chr5:2041671-2041672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs78482147	chr5:2041679-2041680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146052748	chr5:2041706-2041707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571844113	chr5:2041711-2041712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552557400	chr5:2041716-2041717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75571260	chr5:2041719-2041720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369754481	chr5:2041726-2041727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192173836	chr5:2041738-2041739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373547825	chr5:2041739-2041740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554253706	chr5:2041745-2041746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147844555	chr5:2041808-2041809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543251824	chr5:2041846-2041847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141476376	chr5:2041848-2041849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545439116	chr5:2041936-2041937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11280917	chr5:2041944-2041945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577049740	chr5:2041967-2041968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7719740	chr5:2041988-2041989	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs7701523	chr5:2042028-2042029	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs182893196	chr5:2042064-2042065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562254024	chr5:2042067-2042068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543100880	chr5:2042071-2042072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561356404	chr5:2042102-2042103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147013914	chr5:2042157-2042158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550085141	chr5:2042158-2042159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs55997410	chr5:2042223-2042224	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs150966652	chr5:2042226-2042227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563215675	chr5:2042241-2042242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550198406	chr5:2042279-2042280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111613186	chr5:2042334-2042335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs138126158	chr5:2042358-2042359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535836873	chr5:2042384-2042385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191953087	chr5:2042409-2042410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554194087	chr5:2042505-2042506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569393047	chr5:2042509-2042510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75571024	chr5:2042529-2042530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566880611	chr5:2042541-2042542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535658581	chr5:2042542-2042543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558436356	chr5:2042547-2042548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527768228	chr5:2042557-2042558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375235008	chr5:2042573-2042574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35885855	chr5:2042604-2042605	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576987413	chr5:2042624-2042625	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6884854	chr5:2042649-2042650	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs371084900	chr5:2042654-2042655	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs78044831	chr5:2042655-2042656	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566247352	chr5:2042656-2042657	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543039740	chr5:2042659-2042660	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561293851	chr5:2042676-2042677	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73037997	chr5:2042736-2042737	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:111)

Disease	PMID	Source
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16608533	CNVD
Cervical cancer	16585170	CNVD
Glioblastoma multiforme	22286061	CNVD
Lung cancer	17925434	CNVD
Ovarian cancer	20844748	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	21829676	CNVD
Intracranial ependymoma	16609018	CNVD
Breast cancer	19181860	CNVD
prenatal diagnosis	20453657	CNVD
Developmental delay	19490664	CNVD
Human papillomavirus	17975027	CNVD
Acute monocytic leukemia	16498392	CNVD
Gastric cancer	16891809	CNVD
Intracranial aneurysm	16715129	CNVD
Emphysema	19352772	CNVD
Chordoma	18071362	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Lung cancer	21911935	CNVD
Cri-du chat syndrome	21549014	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	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
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
T-cell prolymphocytic leukemia	17713554	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
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	17550852	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Developmental delay	21147756	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	21364760	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
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:2039600-2041800	Weak transcription	Fetal Heart	heart
2	chr5:2040400-2042600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:2042600-2046000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr5:2044400-2045800	ZNF genes & repeats	Aorta	Aorta
5	chr5:2046000-2056800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr5:2047200-2047400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:2047200-2047400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr5:2047400-2048600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:2048200-2048800	ZNF genes & repeats	Lung	lung
10	chr5:2048400-2049400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr5:2048600-2049000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr5:2051200-2052000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr5:2051400-2052000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr5:2051600-2052000	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr5:2056800-2057200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
16	chr5:2057200-2059400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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