Variant report

Variant	esv13350
Chromosome Location	chr8:115865417-115867698
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28488146	chr8:115865441-115865442	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs12680832	chr8:115865494-115865495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554083003	chr8:115865568-115865569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545129030	chr8:115865620-115865621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191981787	chr8:115865626-115865627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs527874175	chr8:115865654-115865655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184606031	chr8:115865736-115865737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188576493	chr8:115865746-115865747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531858644	chr8:115865799-115865800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs6985558	chr8:115865809-115865810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
11	rs568719475	chr8:115865883-115865884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528790570	chr8:115865918-115865919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181373811	chr8:115865975-115865976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556298169	chr8:115866002-115866003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185257806	chr8:115866028-115866029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541231204	chr8:115866097-115866098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577272001	chr8:115866098-115866099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2884258	chr8:115866116-115866117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145965951	chr8:115866158-115866159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575757342	chr8:115866181-115866182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189340943	chr8:115866208-115866209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182391230	chr8:115866213-115866214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529475010	chr8:115866228-115866229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140799288	chr8:115866242-115866243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556527619	chr8:115866246-115866247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186993666	chr8:115866247-115866248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369513049	chr8:115866282-115866283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373931427	chr8:115866315-115866316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543459464	chr8:115866319-115866320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561538948	chr8:115866321-115866322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192331343	chr8:115866323-115866324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573574240	chr8:115866325-115866326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181440370	chr8:115866328-115866329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542837565	chr8:115866346-115866347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540546443	chr8:115866347-115866348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531894888	chr8:115866365-115866366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550161332	chr8:115866380-115866381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373980179	chr8:115866413-115866414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369519396	chr8:115866585-115866586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568881617	chr8:115866613-115866614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532782000	chr8:115866648-115866649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs150117470	chr8:115866657-115866658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs34490977	chr8:115866695-115866696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138559738	chr8:115866701-115866702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs79355677	chr8:115866775-115866776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555616134	chr8:115866830-115866831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185973357	chr8:115866880-115866881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190041003	chr8:115866884-115866885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538144546	chr8:115866891-115866892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115964778	chr8:115866967-115866968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	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
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
Glioblastoma multiforme	21080181	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
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
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21364760	CNVD
Neuroticism	17667963	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:115863600-115866000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr8:115864400-115867800	Weak transcription	HSMMtube	muscle
3	chr8:115864600-115868000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:115866000-115867800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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