Variant report

Variant	esv15326
Chromosome Location	chr5:29621789-29637423
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:29623807..29626845-chr5:29627046..29630345,3	MCF-7	breast:
2	chr5:29620035..29622604-chr5:29624083..29625819,2	K562	blood:
3	chr5:29620035..29622604-chr5:29624083..29625819,2	K562	blood:
4	chr5:29628564..29631486-chr5:29634106..29636111,2	MCF-7	breast:
5	chr5:29623807..29626845-chr5:29627046..29630345,3	MCF-7	breast:
6	chr5:29628564..29631486-chr5:29634106..29636111,2	MCF-7	breast:
7	chr5:29615746..29618032-chr5:29623108..29625004,2	K562	blood:

Extended variants
information (count: 74 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540223799	chr5:29633417-29633418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs561626213	chr5:29633514-29633515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs117822877	chr5:29633524-29633525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs73754729	chr5:29633548-29633549	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs73754730	chr5:29633571-29633572	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs79341291	chr5:29633596-29633597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184185504	chr5:29633607-29633608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188513099	chr5:29633610-29633611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528606240	chr5:29633639-29633640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546700972	chr5:29633640-29633641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568069458	chr5:29633642-29633643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535866852	chr5:29633672-29633673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs77975370	chr5:29633690-29633691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs386686716	chr5:29633706-29633707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73754732	chr5:29633707-29633708	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs558033187	chr5:29633728-29633729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs73754733	chr5:29633789-29633790	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs533825126	chr5:29633790-29633791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs11950082	chr5:29633801-29633802	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs573523211	chr5:29633813-29633814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs370988613	chr5:29633819-29633820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570728776	chr5:29633835-29633836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs73754734	chr5:29633858-29633859	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs73754735	chr5:29633866-29633867	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs116230078	chr5:29633879-29633880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs116521547	chr5:29633885-29633886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181218357	chr5:29633886-29633887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73754736	chr5:29633938-29633939	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs546664065	chr5:29633954-29633955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs73754737	chr5:29633955-29633956	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs115240484	chr5:29633966-29633967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs146496065	chr5:29633974-29633975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569055293	chr5:29633975-29633976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs72757561	chr5:29633977-29633978	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs564462316	chr5:29633990-29633991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs9918231	chr5:29634027-29634028	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs185502201	chr5:29634053-29634054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs11957399	chr5:29634079-29634080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs189371288	chr5:29634122-29634123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539381488	chr5:29634171-29634172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs528974662	chr5:29634196-29634197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs73751721	chr5:29634800-29634801	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs527625163	chr5:29634849-29634850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs78209233	chr5:29634862-29634863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs146573954	chr5:29634895-29634896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531430042	chr5:29634903-29634904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs187706741	chr5:29634918-29634919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs569263631	chr5:29634978-29634979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs114442540	chr5:29635002-29635003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs368481512	chr5:29635025-29635026	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
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
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
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	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
Gastrointestinal stromal cancer	20818650	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Compulsive disorder	18923513	CNVD
Epilepsy	18923513	CNVD
Prader-willi syndrome	18923513	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	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	21364760	CNVD
Breast cancer	20409316	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
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:29633400-29634000	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr5:29633400-29634200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr5:29634800-29635400	Enhancers	Brain Hippocampus Middle	brain
4	chr5:29635000-29635200	Enhancers	Brain Substantia Nigra	brain
5	chr5:29635200-29635600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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