Variant report

Variant	esv15369
Chromosome Location	chr8:54190924-54195796
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:54193004..54195448-chr8:54197380..54199028,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs60919530	chr8:54192626-54192627	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs201433031	chr8:54192657-54192658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs117767450	chr8:54192658-54192659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181857993	chr8:54192659-54192660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs58851111	chr8:54192660-54192661	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs545789775	chr8:54192672-54192673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556267613	chr8:54192776-54192777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575970630	chr8:54192797-54192798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs370948789	chr8:54192819-54192820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576222791	chr8:54192836-54192837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs374380473	chr8:54192862-54192863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189104929	chr8:54192863-54192864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs16918989	chr8:54192905-54192906	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs57372979	chr8:54192957-54192958	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs16918990	chr8:54192960-54192961	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs533127479	chr8:54192964-54192965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs138745191	chr8:54192981-54192982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540873065	chr8:54192989-54192990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569778738	chr8:54192995-54192996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141870738	chr8:54193009-54193010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529376057	chr8:54193035-54193036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs549163110	chr8:54193043-54193044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs62505418	chr8:54193077-54193078	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs2059547	chr8:54193095-54193096	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs146230481	chr8:54193100-54193101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs571931843	chr8:54193138-54193139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562008201	chr8:54193163-54193164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs180717617	chr8:54193175-54193176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs576182918	chr8:54193220-54193221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs3060952	chr8:54193228-54193229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs5891497	chr8:54193229-54193230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs201809912	chr8:54193232-54193233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs397947362	chr8:54193233-54193234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541990943	chr8:54193287-54193288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs186362832	chr8:54193304-54193305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs138025702	chr8:54193309-54193310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs7010993	chr8:54193391-54193392	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs547498825	chr8:54193392-54193393	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Uveal melanoma	20484589	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54192600-54193400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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