Variant report

Variant	esv3336621
Chromosome Location	chr5:27390244-27412519
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:4)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:27410717..27413698-chr5:27423274..27425658,2	K562	blood:
2	chr5:27384539..27388630-chr5:27389237..27391656,3	K562	blood:
3	chr5:27384451..27386814-chr5:27398781..27400428,2	K562	blood:
4	chr5:27386479..27389149-chr5:27394969..27398145,3	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDH9-2	chr5:27410327-27410387	XLOC_004761
2	lnc-CDH9-2	chr5:27409693-27409751	XLOC_004761
3	lnc-CDH9-2	chr5:27406639-27406877	XLOC_004761
4	lnc-CDH9-2	chr5:27406639-27406877	XLOC_004761
5	lnc-CDH9-2	chr5:27406640-27406877	XLOC_004761
6	lnc-CDH9-2	chr5:27406639-27406877	XLOC_004761

No data

Variant related genes	Relation type
CHEK1	miRNA target sites
YWHAQ	miRNA target sites

Extended variants
information (count: 144 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:144 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112461752	chr5:27392036-27392037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs2329547	chr5:27392045-27392046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557051289	chr5:27392061-27392062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568836748	chr5:27392093-27392094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185051300	chr5:27392121-27392122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150151744	chr5:27392133-27392134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572809764	chr5:27392150-27392151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs138215673	chr5:27392154-27392155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs16896767	chr5:27392257-27392258	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs144293268	chr5:27392284-27392285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs116180064	chr5:27392286-27392287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113711684	chr5:27392312-27392313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs113667759	chr5:27392356-27392357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575622915	chr5:27392363-27392364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs140682793	chr5:27392467-27392468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573312209	chr5:27392473-27392474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534909114	chr5:27392480-27392481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555182215	chr5:27392557-27392558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528801940	chr5:27392595-27392596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547366426	chr5:27392728-27392729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs143028428	chr5:27392763-27392764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528908055	chr5:27392776-27392777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554614855	chr5:27392780-27392781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs147531687	chr5:27392795-27392796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568947752	chr5:27392827-27392828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs539120641	chr5:27392836-27392837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551164127	chr5:27392854-27392855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566376014	chr5:27392886-27392887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs574528509	chr5:27392914-27392915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs555276216	chr5:27392915-27392916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573484154	chr5:27392939-27392940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535864817	chr5:27392941-27392942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557041424	chr5:27392943-27392944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs373389293	chr5:27392987-27392988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs377543238	chr5:27393004-27393005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545933392	chr5:27393040-27393041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs564570318	chr5:27393051-27393052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs573508540	chr5:27393071-27393072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs189652328	chr5:27393099-27393100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs182019804	chr5:27393130-27393131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs140233939	chr5:27393159-27393160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs200260790	chr5:27393161-27393162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs187438233	chr5:27393206-27393207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs142920882	chr5:27393209-27393210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs528022882	chr5:27393233-27393234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs532938328	chr5:27393245-27393246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs151077284	chr5:27393285-27393286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs139890211	chr5:27393299-27393300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs191458066	chr5:27393317-27393318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs533765756	chr5:27393377-27393378	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
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
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
Lung cancer	16740712	CNVD
Renal cell carcinoma	18194544	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
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

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:27392000-27393400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr5:27392400-27393600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr5:27402600-27404200	Active TSS	A549	lung
4	chr5:27403000-27403200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr5:27403000-27403200	Enhancers	Hela-S3	cervix
6	chr5:27403200-27403800	Active TSS	Hela-S3	cervix
7	chr5:27403200-27404000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:27403400-27403800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr5:27403400-27403800	Active TSS	Fetal Muscle Leg	muscle
10	chr5:27403400-27404000	Active TSS	HMEC	breast
11	chr5:27403400-27404000	Active TSS	Osteobl	bone
12	chr5:27403400-27404200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:27403600-27404000	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr5:27410400-27411000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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