Variant report

Variant	esv11703
Chromosome Location	chr8:58110346-58112194
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:58104914..58107604-chr8:58109994..58112221,3	K562	blood:
2	chr8:58111629..58114368-chr8:58116589..58119919,3	K562	blood:
3	chr8:58111742..58114368-chr8:58116589..58118815,2	K562	blood:

Variant related genes	Relation type
ENSG00000253301	chromatin interactions

Extended variants
information (count: 88 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367562299	chr8:58110347-58110348	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs536441988	chr8:58110366-58110367	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs553188396	chr8:58110409-58110410	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs146897180	chr8:58110412-58110413	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs72649192	chr8:58110490-58110491	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs538327310	chr8:58110515-58110516	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs558637185	chr8:58110519-58110520	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs187286044	chr8:58110572-58110573	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs112011326	chr8:58110616-58110617	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs144606133	chr8:58110634-58110635	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs191729853	chr8:58110692-58110693	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs540406106	chr8:58110719-58110720	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs560059525	chr8:58110725-58110726	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs566574222	chr8:58110790-58110791	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs183631090	chr8:58110807-58110808	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs564872226	chr8:58110826-58110827	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs187339739	chr8:58110831-58110832	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs191633851	chr8:58110870-58110871	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs535767057	chr8:58110882-58110883	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs182338200	chr8:58110891-58110892	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs370194008	chr8:58110918-58110919	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs138560741	chr8:58110930-58110931	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs16921829	chr8:58110950-58110951	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs186665937	chr8:58110969-58110970	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs530355096	chr8:58110989-58110990	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs534180396	chr8:58111005-58111006	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs193276828	chr8:58111010-58111011	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs149268518	chr8:58111022-58111023	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs533621225	chr8:58111121-58111122	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs558365475	chr8:58111123-58111124	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs72649194	chr8:58111135-58111136	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs16921831	chr8:58111142-58111143	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs554633182	chr8:58111170-58111171	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs57424030	chr8:58111175-58111176	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs556745972	chr8:58111187-58111188	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs148553848	chr8:58111191-58111192	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs16922734	chr8:58111192-58111193	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs141963252	chr8:58111271-58111272	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs554962676	chr8:58111276-58111277	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs546028246	chr8:58111280-58111281	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs28433600	chr8:58111283-58111284	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs147315929	chr8:58111291-58111292	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs368631627	chr8:58111307-58111308	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs185657761	chr8:58111352-58111353	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs190565111	chr8:58111398-58111399	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs141028345	chr8:58111408-58111409	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs546938907	chr8:58111440-58111441	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs560844800	chr8:58111442-58111443	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs532586979	chr8:58111460-58111461	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs147129961	chr8:58111486-58111487	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
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
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
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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	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
Colorectal cancer	16272173	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	22183965	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58106200-58114800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:58111800-58112200	Enhancers	HUES48 Cell Line	embryonic stem cell

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