Variant report

Variant	esv1847298
Chromosome Location	chr8:34356954-34376347
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 313 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:313 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546053324	chr8:34367021-34367022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs558015471	chr8:34367022-34367023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs114527570	chr8:34367027-34367028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540230437	chr8:34367029-34367030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190487545	chr8:34367040-34367041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs78403460	chr8:34367045-34367046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529330706	chr8:34367059-34367060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs4739575	chr8:34367081-34367082	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs145212583	chr8:34367097-34367098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181770998	chr8:34367150-34367151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs148721007	chr8:34367152-34367153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2028775	chr8:34367156-34367157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186939747	chr8:34367157-34367158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570753337	chr8:34367186-34367187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190087714	chr8:34367205-34367206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs376801972	chr8:34367227-34367228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566786955	chr8:34367235-34367236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs369548062	chr8:34367237-34367238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs546578863	chr8:34367262-34367263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs568976910	chr8:34367264-34367265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs2028776	chr8:34367265-34367266	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs4739576	chr8:34367267-34367268	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs182533936	chr8:34367268-34367269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs143557071	chr8:34367290-34367291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs146878926	chr8:34367318-34367319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs531510302	chr8:34367333-34367334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs140712436	chr8:34367337-34367338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs184922481	chr8:34367351-34367352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs369037915	chr8:34367353-34367354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs145844669	chr8:34367367-34367368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs578213194	chr8:34367375-34367376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs376103577	chr8:34367390-34367391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574103339	chr8:34367403-34367404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533768318	chr8:34367435-34367436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs189779853	chr8:34367439-34367440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs558591500	chr8:34367458-34367459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs373816714	chr8:34367469-34367470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs546007731	chr8:34367476-34367477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs200992779	chr8:34367488-34367489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs201819810	chr8:34367489-34367490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs200490137	chr8:34367492-34367493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs201069749	chr8:34367496-34367497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs371296641	chr8:34367497-34367498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs202169536	chr8:34367520-34367521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs564379792	chr8:34367528-34367529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs183146957	chr8:34367530-34367531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546596336	chr8:34367550-34367551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs576834261	chr8:34367602-34367603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs151084404	chr8:34367606-34367607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs528864888	chr8:34367689-34367690	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

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
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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:34367000-34367800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:34369200-34370000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr8:34371400-34371800	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr8:34371400-34371800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:34371600-34372800	Enhancers	Fetal Heart	heart
6	chr8:34371800-34372400	Enhancers	Stomach Mucosa	stomach
7	chr8:34372400-34372800	Enhancers	Liver	Liver
8	chr8:34372800-34379200	Weak transcription	Fetal Heart	heart
9	chr8:34374000-34374800	Enhancers	Brain Germinal Matrix	brain
10	chr8:34375200-34376400	Enhancers	Fetal Brain Male	brain
11	chr8:34375400-34375800	Enhancers	Fetal Brain Female	brain
12	chr8:34375800-34376200	Enhancers	Cortex derived primary cultured neurospheres	brain

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