Variant report

Variant	esv3419730
Chromosome Location	chr8:34291060-34292208
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569962152	chr8:34291098-34291099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190052421	chr8:34291108-34291109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558507110	chr8:34291132-34291133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570467380	chr8:34291133-34291134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs79612963	chr8:34291155-34291156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553303453	chr8:34291199-34291200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76026069	chr8:34291207-34291208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182684683	chr8:34291220-34291221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186078590	chr8:34291224-34291225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190798854	chr8:34291375-34291376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183897899	chr8:34291377-34291378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368782266	chr8:34291378-34291379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201843968	chr8:34291379-34291380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200168747	chr8:34291380-34291381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201294212	chr8:34291382-34291383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558554547	chr8:34291386-34291387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs56995551	chr8:34291388-34291389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544730288	chr8:34291390-34291391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs79228894	chr8:34291392-34291393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs57260113	chr8:34291394-34291395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs78625072	chr8:34291398-34291399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs13279976	chr8:34291400-34291401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs78069279	chr8:34291424-34291425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10097642	chr8:34291426-34291427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs60711839	chr8:34291428-34291429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs71506545	chr8:34291432-34291433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs13252813	chr8:34291447-34291448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs36027906	chr8:34291452-34291453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34699760	chr8:34291454-34291455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35202108	chr8:34291456-34291457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111281979	chr8:34291475-34291476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539564148	chr8:34291536-34291537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148492855	chr8:34291544-34291545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545809170	chr8:34291582-34291583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556039620	chr8:34291588-34291589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10112929	chr8:34291602-34291603	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs192603004	chr8:34291628-34291629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182975518	chr8:34291632-34291633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187647556	chr8:34291655-34291656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142688879	chr8:34291673-34291674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191764672	chr8:34291728-34291729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557306724	chr8:34291739-34291740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530789826	chr8:34291778-34291779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184775929	chr8:34291809-34291810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558884581	chr8:34291817-34291818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs570389234	chr8:34291822-34291823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534315547	chr8:34291829-34291830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs371074994	chr8:34291859-34291860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs546724863	chr8:34291899-34291900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs567796899	chr8:34291916-34291917	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:117)

Disease	PMID	Source
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	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
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
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	21806811	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hepatocellular carcinoma	16750200	CNVD
Bladder cancer	19088036	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	20459607	CNVD
Renal cell carcinoma	18765545	CNVD
Colorectal cancer	16912164	CNVD
Neuroticism	17667963	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
Urothelial carcinoma	18382360	CNVD
Ductal carcinoma	18381933	CNVD
Breast cancer	21328542	CNVD
Squamous cell cancer	20885788	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Intellectual disability	22045946	CNVD
Lung cancer	17925434	CNVD
Uveal melanoma	20484589	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21364760	CNVD
Ewing''s sarcoma	17952124	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:34288000-34291800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:34291800-34292200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:34292200-34292600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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