Variant report

Variant	esv3391146
Chromosome Location	chr8:108379801-108382349
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 97 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559503846	chr8:108379850-108379851	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs530146255	chr8:108379860-108379861	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs73702053	chr8:108379931-108379932	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs183248959	chr8:108379950-108379951	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs571499230	chr8:108379971-108379972	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs75225575	chr8:108379973-108379974	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs115114848	chr8:108380001-108380002	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs2514859	chr8:108380002-108380003	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs562649897	chr8:108380066-108380067	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs370747562	chr8:108380075-108380076	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs536745032	chr8:108380100-108380101	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs2514860	chr8:108380240-108380241	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs186661651	chr8:108380241-108380242	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs10101822	chr8:108380309-108380310	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs114097569	chr8:108380333-108380334	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs542979020	chr8:108380422-108380423	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs531778022	chr8:108380445-108380446	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs138128404	chr8:108380475-108380476	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs386728631	chr8:108380533-108380534	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs573356045	chr8:108380535-108380536	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs2959351	chr8:108380632-108380633	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs570457867	chr8:108380651-108380652	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs371115968	chr8:108380668-108380669	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs564901861	chr8:108380676-108380677	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs80270457	chr8:108380691-108380692	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs528287856	chr8:108380706-108380707	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs374019921	chr8:108380721-108380722	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs544905332	chr8:108380722-108380723	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs565172136	chr8:108380727-108380728	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs530844788	chr8:108380731-108380732	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs550968406	chr8:108380733-108380734	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs567670108	chr8:108380752-108380753	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs530155174	chr8:108380756-108380757	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs547066330	chr8:108380758-108380759	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs201256343	chr8:108381070-108381071	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs201981790	chr8:108381073-108381074	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs200438982	chr8:108381075-108381076	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs202081026	chr8:108381077-108381078	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs143228257	chr8:108381078-108381079	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs566878761	chr8:108381091-108381092	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs71308726	chr8:108381121-108381122	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs372923822	chr8:108381164-108381165	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs539206638	chr8:108381176-108381177	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs186626248	chr8:108381201-108381202	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs569179897	chr8:108381240-108381241	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs78392449	chr8:108381271-108381272	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs192695038	chr8:108381301-108381302	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs1654703	chr8:108381339-108381340	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs183246515	chr8:108381354-108381355	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs1654704	chr8:108381389-108381390	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:99)

Disease	PMID	Source
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
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	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
abnormal development	18461090	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
Cancer	16751803	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
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Multiple myeloma	16461302	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Breast cancer	21364760	CNVD
Gastric cancer	22539939	CNVD
Non-small cell lung cancer	19010865	CNVD
Prostate cancer	22341455	CNVD
Colorectal cancer	21645411	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:108345200-108393200	Weak transcription	Aorta	Aorta
2	chr8:108370200-108381200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr8:108371200-108380400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr8:108371400-108389400	Weak transcription	Osteobl	bone
5	chr8:108372400-108384600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr8:108375600-108386400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr8:108375800-108381200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr8:108375800-108385000	Weak transcription	Fetal Heart	heart
9	chr8:108379200-108382800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:108379800-108382400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr8:108380000-108382000	Weak transcription	Left Ventricle	heart
12	chr8:108380400-108380600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:108380600-108388200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:108381200-108382200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
15	chr8:108381200-108382400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
16	chr8:108381400-108382200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr8:108382000-108382200	Enhancers	Ovary	ovary
18	chr8:108382200-108383800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr8:108382200-108392400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr8:108382200-108393000	Weak transcription	Ovary	ovary

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