Variant report

Variant	esv1815664
Chromosome Location	chr5:8011811-8019413
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:8005906..8008212-chr5:8012967..8015085,2	K562	blood:
2	chr5:7990734..7993974-chr5:8011834..8015550,5	K562	blood:
3	chr5:8011424..8014393-chr5:8015605..8017261,2	K562	blood:
4	chr5:8011424..8014393-chr5:8015605..8017261,2	K562	blood:
5	chr5:8003382..8004914-chr5:8014701..8016204,2	K562	blood:
6	chr5:8012836..8015830-chr5:9202478..9204498,2	K562	blood:
7	chr1:106850774..106851368-chr5:8018994..8019495,2	MCF-7	breast:
8	chr5:8008383..8010769-chr5:8012694..8014385,2	K562	blood:

Extended variants
information (count: 172 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:172 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1318894	chr5:8011811-8011812	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs542979870	chr5:8011826-8011827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562501709	chr5:8011850-8011851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558554700	chr5:8011856-8011857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs982475	chr5:8011884-8011885	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs188129617	chr5:8011888-8011889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570961878	chr5:8011912-8011913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181345621	chr5:8011954-8011955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs151132524	chr5:8011956-8011957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112982945	chr5:8011970-8011971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567154884	chr5:8011988-8011989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534845865	chr5:8012020-8012021	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs2924461	chr5:8012069-8012070	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs75114635	chr5:8012078-8012079	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs116694999	chr5:8012085-8012086	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs537805992	chr5:8012093-8012094	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs1453353	chr5:8012116-8012117	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs1840154	chr5:8012193-8012194	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs576037775	chr5:8012203-8012204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs578120301	chr5:8012206-8012207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534326147	chr5:8012219-8012220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546505248	chr5:8012228-8012229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554385329	chr5:8012242-8012243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1840155	chr5:8012249-8012250	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs139028423	chr5:8012274-8012275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs2966955	chr5:8012335-8012336	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs576676560	chr5:8012353-8012354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs10066585	chr5:8012357-8012358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs10057156	chr5:8012363-8012364	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs144174869	chr5:8012444-8012445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185561874	chr5:8012446-8012447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs34677877	chr5:8012451-8012452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs189205962	chr5:8012463-8012464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs72720655	chr5:8012494-8012495	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs181736168	chr5:8012526-8012527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569823914	chr5:8012527-8012528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs538942331	chr5:8012544-8012545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs551786172	chr5:8012570-8012571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571698772	chr5:8012597-8012598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs534285601	chr5:8012603-8012604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs13169313	chr5:8012611-8012612	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs146511657	chr5:8012612-8012613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs112956349	chr5:8012663-8012664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs550329756	chr5:8012664-8012665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs574090854	chr5:8012688-8012689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs115330659	chr5:8012691-8012692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs141049015	chr5:8012698-8012699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs13169450	chr5:8012710-8012711	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs576625908	chr5:8012730-8012731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs34230389	chr5:8012811-8012812	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Lung cancer	21911935	CNVD
Cri-du chat syndrome	21549014	CNVD
Cervical squamous cell carcinoma	21590768	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
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
Developmental delay	21147756	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
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Melanoma	22183965	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Ovarian cancer	19193619	CNVD
Hepatocellular carcinoma	16785998	CNVD
Cancer	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intellectual disability	22102821	CNVD
early-passage human iPS cells	21368824	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:8011800-8015400	Enhancers	K562	blood
2	chr5:8012000-8012200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:8013800-8015600	Enhancers	Primary B cells from peripheral blood	blood
4	chr5:8014000-8015200	Enhancers	Fetal Lung	lung
5	chr5:8014000-8015600	Enhancers	Primary B cells from cord blood	blood
6	chr5:8014200-8015400	Enhancers	H9 Cell Line	embryonic stem cell

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