Variant report

Variant	esv3481169
Chromosome Location	chr8:49093250-49094089
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114844650	chr8:49093260-49093261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190226122	chr8:49093269-49093270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs113203542	chr8:49093302-49093303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181939818	chr8:49093308-49093309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559909292	chr8:49093327-49093328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs3934735	chr8:49093329-49093330	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs567615938	chr8:49093353-49093354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536667728	chr8:49093354-49093355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs3934732	chr8:49093365-49093366	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs138136429	chr8:49093366-49093367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549987885	chr8:49093372-49093373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs370022916	chr8:49093387-49093388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs535966433	chr8:49093390-49093391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs34882026	chr8:49093417-49093418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143245959	chr8:49093446-49093447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs59429549	chr8:49093447-49093448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374110686	chr8:49093451-49093452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148314725	chr8:49093453-49093454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs377591744	chr8:49093500-49093501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs3934733	chr8:49093501-49093502	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs11991972	chr8:49093505-49093506	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs186755396	chr8:49093534-49093535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555563532	chr8:49093535-49093536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556358092	chr8:49093537-49093538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573861359	chr8:49093539-49093540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs3934734	chr8:49093540-49093541	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs560147852	chr8:49093561-49093562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190272866	chr8:49093567-49093568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545777342	chr8:49093609-49093610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201560691	chr8:49093621-49093622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142045408	chr8:49093625-49093626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181148204	chr8:49093654-49093655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550063246	chr8:49093679-49093680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185176065	chr8:49093689-49093690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs146364427	chr8:49093709-49093710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189791985	chr8:49093710-49093711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182409134	chr8:49093755-49093756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs4072343	chr8:49093831-49093832	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs369640709	chr8:49093880-49093881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111326351	chr8:49093894-49093895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575430959	chr8:49093977-49093978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544352630	chr8:49094051-49094052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113872578	chr8:49094053-49094054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115793217	chr8:49094075-49094076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
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
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	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
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	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
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
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
22q11 deletion syndrome	20357662	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49085200-49098400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:49089600-49094000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:49090200-49093400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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