Variant report

Variant	esv1845726
Chromosome Location	chr8:117631352-117633257
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10105966	chr8:117631352-117631353	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs7011668	chr8:117631382-117631383	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs116503665	chr8:117631397-117631398	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188897321	chr8:117631400-117631401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572571447	chr8:117631429-117631430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542830524	chr8:117631446-117631447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs17805446	chr8:117631479-117631480	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs149279966	chr8:117631481-117631482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528382590	chr8:117631505-117631506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557288643	chr8:117631553-117631554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564886381	chr8:117631581-117631582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532475987	chr8:117631590-117631591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547454165	chr8:117631627-117631628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548534354	chr8:117631635-117631636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566353476	chr8:117631651-117631652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7822969	chr8:117631676-117631677	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs367806734	chr8:117631689-117631690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548890255	chr8:117631736-117631737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567593196	chr8:117631737-117631738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577188339	chr8:117631769-117631770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375786615	chr8:117631777-117631778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549806347	chr8:117631786-117631787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7823142	chr8:117631788-117631789	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs538759744	chr8:117631818-117631819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553936160	chr8:117631825-117631826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572030148	chr8:117631827-117631828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536888921	chr8:117631851-117631852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554859614	chr8:117631901-117631902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369254828	chr8:117631906-117631907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34915204	chr8:117631907-117631908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs74275538	chr8:117631920-117631921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs397727448	chr8:117631921-117631922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs386729073	chr8:117631960-117631961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6469653	chr8:117631964-117631965	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs142595861	chr8:117631965-117631966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543664854	chr8:117631972-117631973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369757169	chr8:117632009-117632010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115347414	chr8:117632067-117632068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576801810	chr8:117632092-117632093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs141729647	chr8:117632127-117632128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559457420	chr8:117632128-117632129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181312299	chr8:117632156-117632157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147221341	chr8:117632180-117632181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560872568	chr8:117632186-117632187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565055477	chr8:117632198-117632199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372471007	chr8:117632202-117632203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539193745	chr8:117632311-117632312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371003584	chr8:117632312-117632313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79988771	chr8:117632342-117632343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552539378	chr8:117632354-117632355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Neuroticism	17667963	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	20164920	CNVD
Breast cancer	20932292	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117630400-117631400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr8:117630400-117631400	Enhancers	Fetal Stomach	stomach
3	chr8:117630800-117631600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:117631000-117631400	Enhancers	Fetal Brain Female	brain
5	chr8:117631000-117631400	Enhancers	Fetal Kidney	kidney
6	chr8:117631000-117631600	Enhancers	Fetal Brain Male	brain
7	chr8:117631000-117631600	Enhancers	Left Ventricle	heart
8	chr8:117631200-117635400	Weak transcription	Fetal Lung	lung
9	chr8:117631200-117635400	Weak transcription	Right Atrium	heart
10	chr8:117631200-117641600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:117631400-117635400	Weak transcription	Fetal Stomach	stomach
12	chr8:117631600-117635600	Weak transcription	Left Ventricle	heart
13	chr8:117632400-117633000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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