Variant report

Variant	esv15341
Chromosome Location	chr8:54510310-54529246
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 694 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:694 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560192591	chr8:54510322-54510323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs11778297	chr8:54510378-54510379	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs113434729	chr8:54510399-54510400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552386965	chr8:54510409-54510410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10808882	chr8:54510435-54510436	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs138471201	chr8:54510482-54510483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548418608	chr8:54510488-54510489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149632013	chr8:54510503-54510504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10958376	chr8:54510549-54510550	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs193002341	chr8:54510584-54510585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10958377	chr8:54510605-54510606	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs79397904	chr8:54510627-54510628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375656105	chr8:54510631-54510632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs557347193	chr8:54510665-54510666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs10958378	chr8:54510701-54510702	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs542118674	chr8:54510708-54510709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs71735466	chr8:54510736-54510737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs199726508	chr8:54510737-54510738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs562364416	chr8:54510748-54510749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs144403480	chr8:54510749-54510750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs540205387	chr8:54510760-54510761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560026789	chr8:54510798-54510799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532262634	chr8:54510817-54510818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7461405	chr8:54510848-54510849	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs182881166	chr8:54510868-54510869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs114263953	chr8:54510916-54510917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548228414	chr8:54510956-54510957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568341231	chr8:54510972-54510973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs71501578	chr8:54510982-54510983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6473859	chr8:54510983-54510984	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs117259351	chr8:54511016-54511017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539565410	chr8:54511022-54511023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs6473860	chr8:54511076-54511077	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs576235902	chr8:54511144-54511145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186524020	chr8:54511180-54511181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374315968	chr8:54511187-54511188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555817251	chr8:54511213-54511214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs191808182	chr8:54511264-54511265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs541330073	chr8:54511314-54511315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553826096	chr8:54511335-54511336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549367431	chr8:54511355-54511356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs6989219	chr8:54511360-54511361	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs562562677	chr8:54511399-54511400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs141527082	chr8:54511405-54511406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs367644925	chr8:54511450-54511451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372275530	chr8:54511480-54511481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531583201	chr8:54511482-54511483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11783135	chr8:54511512-54511513	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs561868448	chr8:54511550-54511551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76102325	chr8:54511562-54511563	Weak transcription	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:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54503400-54510600	Weak transcription	Aorta	Aorta
2	chr8:54510600-54510800	Enhancers	Aorta	Aorta
3	chr8:54510800-54511200	Weak transcription	Aorta	Aorta
4	chr8:54511200-54511400	Enhancers	Aorta	Aorta
5	chr8:54511400-54516000	Weak transcription	Aorta	Aorta
6	chr8:54516000-54516200	Enhancers	Aorta	Aorta
7	chr8:54520200-54520800	Enhancers	Brain Germinal Matrix	brain
8	chr8:54521200-54521800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr8:54521400-54521800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:54521600-54521800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr8:54521600-54521800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr8:54521600-54521800	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr8:54521600-54522000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr8:54521800-54522000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr8:54521800-54522000	Enhancers	H1 Cell Line	embryonic stem cell
16	chr8:54521800-54522000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr8:54521800-54522000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr8:54521800-54522000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr8:54521800-54522000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr8:54521800-54522000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr8:54521800-54522000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
22	chr8:54521800-54522000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
23	chr8:54521800-54522000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr8:54521800-54522000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr8:54521800-54522200	Enhancers	Placenta	Placenta
26	chr8:54522000-54522200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
27	chr8:54522000-54522200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr8:54522000-54522200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr8:54522000-54522200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr8:54522000-54522400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr8:54522000-54522400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
32	chr8:54522000-54522400	Enhancers	NHEK	skin
33	chr8:54522000-54522600	Active TSS	H9 Cell Line	embryonic stem cell
34	chr8:54522000-54522600	Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr8:54522000-54522600	Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr8:54522000-54522600	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr8:54522000-54522600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr8:54522000-54522600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr8:54522000-54522600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr8:54522000-54522800	Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr8:54522000-54523000	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr8:54522200-54522400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr8:54522200-54522600	Active TSS	H1 Cell Line	embryonic stem cell
44	chr8:54522200-54522600	Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr8:54522200-54522600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr8:54522400-54528800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr8:54522600-54523000	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr8:54522600-54528200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr8:54528000-54529000	Enhancers	Pancreas	Pancrea
50	chr8:54528200-54528400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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