Variant report

Variant	esv3326849
Chromosome Location	chr6:93286280-93299783
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EPHA7-2	chr6:93299040-93299050	XLOC_005783
2	lnc-EPHA7-2	chr6:93299496-93299804	XLOC_005783

Extended variants
information (count: 178 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:178 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145080379	chr6:93286473-93286474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs562644046	chr6:93286497-93286498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs783848	chr6:93286524-93286525	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs138800955	chr6:93286585-93286586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112153683	chr6:93286586-93286587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs533919881	chr6:93286591-93286592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547504492	chr6:93286607-93286608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs567328589	chr6:93286608-93286609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190440042	chr6:93286616-93286617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs536842018	chr6:93286633-93286634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556764875	chr6:93286661-93286662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs114709916	chr6:93286764-93286765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570799950	chr6:93286766-93286767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs140545316	chr6:93286805-93286806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572403648	chr6:93286823-93286824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541171220	chr6:93286879-93286880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561058182	chr6:93286916-93286917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574548100	chr6:93286926-93286927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558940077	chr6:93286976-93286977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs2183002	chr6:93286994-93286995	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs562669702	chr6:93287089-93287090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531544206	chr6:93287119-93287120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183083414	chr6:93287201-93287202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200819053	chr6:93287207-93287208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187632523	chr6:93287307-93287308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564766449	chr6:93287324-93287325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527289866	chr6:93287328-93287329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547368202	chr6:93287374-93287375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567391653	chr6:93287376-93287377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190902762	chr6:93287393-93287394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550141021	chr6:93287434-93287435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs570209283	chr6:93287450-93287451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs143798817	chr6:93287480-93287481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs1590771	chr6:93287540-93287541	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs565993627	chr6:93287553-93287554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs1590772	chr6:93287566-93287567	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs371625212	chr6:93287581-93287582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs375258643	chr6:93287591-93287592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs574477517	chr6:93287594-93287595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs554517461	chr6:93287595-93287596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs574611232	chr6:93287654-93287655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs543497588	chr6:93287657-93287658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs556115108	chr6:93287661-93287662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs183973592	chr6:93287691-93287692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544832989	chr6:93287759-93287760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs565185873	chr6:93287793-93287794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs187869694	chr6:93287795-93287796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs541043111	chr6:93287860-93287861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs560850784	chr6:93287874-93287875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554821053	chr6:93287924-93287925	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	21364760	CNVD
Developmental delay	19490664	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adrenocortical carcinoma	18281524	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Neuropathy	19664229	CNVD
Neurodevelopmental disorder	22521361	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Basal cell lymphoma	17170743	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:93286400-93287800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:93286600-93287000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr6:93286600-93287800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:93286800-93287800	Enhancers	HSMM	muscle
5	chr6:93286800-93287800	Enhancers	NH-A	brain
6	chr6:93287000-93287400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:93287000-93287400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr6:93287000-93287400	Enhancers	Hela-S3	cervix
9	chr6:93287400-93288000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr6:93296000-93296200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:93296800-93300200	Enhancers	Hela-S3	cervix

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