Variant report

Variant	esv11073
Chromosome Location	chr8:68546758-68551563
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:68548341..68551213-chr8:68551272..68553707,2	K562	blood:
2	chr8:68547352..68551056-chr8:68551265..68553707,4	K562	blood:
3	chr8:68547352..68551056-chr8:68551265..68553707,4	K562	blood:
4	chr8:68546219..68548074-chr8:68552371..68554076,2	MCF-7	breast:
5	chr8:68544829..68547462-chr8:68549274..68551822,2	K562	blood:
6	chr8:68544829..68547462-chr8:68549274..68551822,2	K562	blood:
7	chr8:68548341..68551213-chr8:68551272..68553707,2	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553629989	chr8:68548255-68548256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs11991669	chr8:68548258-68548259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs142734053	chr8:68548275-68548276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556085263	chr8:68548327-68548328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs78444647	chr8:68548387-68548388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs147358524	chr8:68548392-68548393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs6472325	chr8:68548445-68548446	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs565159991	chr8:68548454-68548455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs527522091	chr8:68548458-68548459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541216606	chr8:68548534-68548535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs561228682	chr8:68548607-68548608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs137883881	chr8:68548637-68548638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572636060	chr8:68548744-68548745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187363162	chr8:68548764-68548765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563313456	chr8:68548794-68548795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs111987909	chr8:68548795-68548796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542894026	chr8:68548835-68548836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs6472327	chr8:68548904-68548905	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs566026833	chr8:68548918-68548919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528851072	chr8:68548993-68548994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534956991	chr8:68549039-68549040	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs144133322	chr8:68549040-68549041	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs567260331	chr8:68549104-68549105	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs144386552	chr8:68549137-68549138	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs555910495	chr8:68549180-68549181	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs377062237	chr8:68549199-68549200	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs573225754	chr8:68550800-68550801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs76657914	chr8:68550812-68550813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs74659108	chr8:68550835-68550836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185737035	chr8:68550892-68550893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs544834523	chr8:68550895-68550896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554552354	chr8:68550900-68550901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574602783	chr8:68550919-68550920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs562447593	chr8:68550924-68550925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs533541208	chr8:68550936-68550937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs115281933	chr8:68550940-68550941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs143140461	chr8:68550946-68550947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs528136581	chr8:68550962-68550963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs407497	chr8:68550977-68550978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs148239522	chr8:68550980-68550981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs188965817	chr8:68550994-68550995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs72657264	chr8:68551012-68551013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs192970835	chr8:68551042-68551043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs367627967	chr8:68551052-68551053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs367981747	chr8:68551083-68551084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs141258722	chr8:68551112-68551113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs570341776	chr8:68551146-68551147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs371224596	chr8:68551151-68551152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs532976093	chr8:68551198-68551199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs427451	chr8:68551323-68551324	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:100)

Disease	PMID	Source
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
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	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
Multiple myeloma	16461302	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
Cancer	16751803	CNVD
Salivary gland tumor	18059337	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
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Sezary syndrome	18413736	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
head and neck squamous cell carcinoma	16715129	CNVD
Prostate cancer	16461572	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:68548200-68548800	Enhancers	Colon Smooth Muscle	Colon
2	chr8:68548200-68548800	Enhancers	Rectal Smooth Muscle	rectum
3	chr8:68548600-68549000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr8:68549000-68549200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:68550800-68552000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:68550800-68552000	Enhancers	Adipose Nuclei	Adipose
7	chr8:68551400-68553400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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