Variant report

Variant	esv3324663
Chromosome Location	chr8:38990245-38992743
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35027560	chr8:38990271-38990272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534177029	chr8:38990282-38990283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549453093	chr8:38990298-38990299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4236756	chr8:38990415-38990416	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs77197638	chr8:38990448-38990449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541448352	chr8:38990504-38990505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555369217	chr8:38990515-38990516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111875454	chr8:38990533-38990534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143895639	chr8:38990539-38990540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564233580	chr8:38990617-38990618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540729452	chr8:38990660-38990661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533162654	chr8:38990676-38990677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540504928	chr8:38990677-38990678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560469340	chr8:38990757-38990758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372514355	chr8:38990764-38990765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529221961	chr8:38990783-38990784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549083595	chr8:38990794-38990795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7839715	chr8:38990965-38990966	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs12548879	chr8:38990976-38990977	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs374646725	chr8:38991023-38991024	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs551465910	chr8:38991052-38991053	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs571481974	chr8:38991064-38991065	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs534141823	chr8:38991164-38991165	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs75564218	chr8:38991187-38991188	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs567842839	chr8:38991211-38991212	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs146517031	chr8:38991269-38991270	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs138855238	chr8:38991275-38991276	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs575206217	chr8:38991281-38991282	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs546765770	chr8:38991370-38991371	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs537892412	chr8:38991378-38991379	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs115299535	chr8:38991390-38991391	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs184934169	chr8:38991396-38991397	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs540412285	chr8:38991407-38991408	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs560415041	chr8:38991426-38991427	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs149297144	chr8:38991435-38991436	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs542946604	chr8:38991437-38991438	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs144646892	chr8:38991438-38991439	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs148471264	chr8:38991501-38991502	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs141632058	chr8:38991509-38991510	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs375641125	chr8:38991548-38991549	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs57639467	chr8:38991629-38991630	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs547581933	chr8:38991636-38991637	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs567889713	chr8:38991659-38991660	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs35623805	chr8:38991660-38991661	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs150502859	chr8:38991690-38991691	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs6997278	chr8:38991720-38991721	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs538708899	chr8:38991828-38991829	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs568729828	chr8:38991849-38991850	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs537855512	chr8:38991850-38991851	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs148350283	chr8:38991861-38991862	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

Disease	PMID	Source
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	21979893	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	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
Acute lymphoblastic leukemia	21248843	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hepatocellular carcinoma	16750200	CNVD
Bladder cancer	19088036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17001308	CNVD
Breast cancer	17157792	CNVD
Cancer	17001308	CNVD
Cancer	18840272	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Chordoma	18071362	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21785460	CNVD
abnormal development	18461090	CNVD
Breast cancer	16620391	CNVD
Adrenocortical carcinoma	18281524	CNVD
Rhabdomyosarcoma	16790082	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21138945	CNVD
Lung cancer	21569311	CNVD
Prader-willi syndrome	20588305	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Cancer	20164919	CNVD
Adenocarcinoma	19001599	CNVD
Non-small cell lung cancer	19001599	CNVD
Squamous cell cancer	19001599	CNVD
Cone-rod dystrophy	22138850	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:38971200-39036400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr8:38979200-39001000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:38990800-38992000	ZNF genes & repeats	Esophagus	oesophagus
4	chr8:38991000-38991800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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