Variant report

Variant	esv1823121
Chromosome Location	chr6:161030133-161080991
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:161080728..161083245-chr6:161087740..161089889,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PLG-2	chr6:161039310-161039522	NONHSAT115908
2	lnc-PLG-2	chr6:161041576-161041654	NONHSAT115908

Extended variants
information (count: 1084 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:1084 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537612191	chr6:161030137-161030138	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs140260245	chr6:161030168-161030169	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190138293	chr6:161030187-161030188	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs9456554	chr6:161030202-161030203	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs557771154	chr6:161030230-161030231	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75692336	chr6:161030231-161030232	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369715315	chr6:161030242-161030243	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144038729	chr6:161030296-161030297	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374665056	chr6:161030300-161030301	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150967358	chr6:161030318-161030319	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552346265	chr6:161030343-161030344	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377720123	chr6:161030354-161030355	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182190043	chr6:161030361-161030362	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559721552	chr6:161030363-161030364	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528763058	chr6:161030365-161030366	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs115704782	chr6:161030408-161030409	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370331973	chr6:161030421-161030422	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370618430	chr6:161030447-161030448	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141033257	chr6:161030461-161030462	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs6455695	chr6:161030469-161030470	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs80147224	chr6:161030482-161030483	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150238459	chr6:161030493-161030494	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187223926	chr6:161030510-161030511	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574857179	chr6:161030542-161030543	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559435190	chr6:161030555-161030556	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190797053	chr6:161030562-161030563	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528536535	chr6:161030566-161030567	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570596346	chr6:161030572-161030573	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534907754	chr6:161030575-161030576	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558127686	chr6:161030584-161030585	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181076811	chr6:161030628-161030629	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185277307	chr6:161030635-161030636	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557009824	chr6:161030649-161030650	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548180428	chr6:161030656-161030657	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568069660	chr6:161030664-161030665	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113428210	chr6:161030679-161030680	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376036079	chr6:161030686-161030687	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542388467	chr6:161030708-161030709	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370399017	chr6:161030711-161030712	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550897481	chr6:161030716-161030717	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573400405	chr6:161030725-161030726	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141805598	chr6:161030735-161030736	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534903382	chr6:161030742-161030743	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147125516	chr6:161030743-161030744	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374662362	chr6:161030760-161030761	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561152988	chr6:161030776-161030777	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148114434	chr6:161030794-161030795	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539654424	chr6:161030799-161030800	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190381259	chr6:161030811-161030812	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs74655412	chr6:161030841-161030842	Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
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
Melanoma	18172304	CNVD
Cancer	21637783	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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chordoma	18071362	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Atherosclerosis	21956041	CNVD
Maculopathy	20981449	CNVD
Retinoblastoma	22278416	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Uveal melanoma	20484589	CNVD
Glioblastoma multiforme	19435819	CNVD
Carotid artery disease	21127300	CNVD
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:160990600-161032600	Strong transcription	Liver	Liver
2	chr6:161031200-161031800	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
3	chr6:161031800-161032000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr6:161032000-161032600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr6:161032600-161034200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr6:161032600-161034400	Weak transcription	Liver	Liver
7	chr6:161055600-161056000	Active TSS	Fetal Heart	heart
8	chr6:161055600-161056000	ZNF genes & repeats	Stomach Mucosa	stomach
9	chr6:161055600-161056200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
10	chr6:161055800-161056000	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
11	chr6:161055800-161056000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr6:161055800-161056000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
13	chr6:161055800-161056000	ZNF genes & repeats	Fetal Brain Male	brain
14	chr6:161055800-161056200	ZNF genes & repeats	Fetal Stomach	stomach
15	chr6:161056200-161069400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr6:161063400-161067800	Weak transcription	Liver	Liver
17	chr6:161067800-161072400	Strong transcription	Liver	Liver
18	chr6:161069400-161069800	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
19	chr6:161069800-161071600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr6:161071600-161077000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr6:161072400-161073400	Weak transcription	Liver	Liver
22	chr6:161073400-161074800	Enhancers	Liver	Liver
23	chr6:161074800-161077600	Weak transcription	Liver	Liver
24	chr6:161077000-161077200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
25	chr6:161080200-161083000	Enhancers	Liver	Liver

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