Variant report

Variant	nsv1018420
Chromosome Location	chr6:161024917-161068550
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:161022530..161025379-chr6:161026133..161029753,3	K562	blood:
2	chr6:161019352..161022051-chr6:161023813..161026327,2	K562	blood:
3	chr6:161022530..161025379-chr6:161026133..161029753,3	K562	blood:

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

Extended variants
information (count: 927 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:927 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562318254	chr6:161024994-161024995	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs575864812	chr6:161025007-161025008	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184929473	chr6:161025036-161025037	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs59760174	chr6:161025042-161025043	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs561692393	chr6:161025055-161025056	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112674811	chr6:161025059-161025060	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369598598	chr6:161025060-161025061	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189638292	chr6:161025063-161025064	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547037276	chr6:161025072-161025073	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs117540984	chr6:161025085-161025086	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549883366	chr6:161025095-161025096	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111366150	chr6:161025101-161025102	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114694418	chr6:161025107-161025108	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532510327	chr6:161025125-161025126	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs74536224	chr6:161025142-161025143	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549603189	chr6:161025143-161025144	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566338337	chr6:161025144-161025145	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs150705678	chr6:161025150-161025151	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557836086	chr6:161025175-161025176	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139688756	chr6:161025204-161025205	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369762229	chr6:161025219-161025220	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556742819	chr6:161025260-161025261	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541082980	chr6:161025276-161025277	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6902102	chr6:161025288-161025289	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs149360334	chr6:161025347-161025348	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs137912282	chr6:161025359-161025360	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575827571	chr6:161025439-161025440	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6930342	chr6:161025442-161025443	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs368895979	chr6:161025469-161025470	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs73785607	chr6:161025472-161025473	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561555063	chr6:161025493-161025494	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572211794	chr6:161025494-161025495	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs6930542	chr6:161025547-161025548	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs563911359	chr6:161025623-161025624	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532986031	chr6:161025625-161025626	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529612903	chr6:161025661-161025662	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558877956	chr6:161025676-161025677	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561047478	chr6:161025684-161025685	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549900456	chr6:161025707-161025708	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs41270986	chr6:161025712-161025713	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs529010031	chr6:161025717-161025718	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549568008	chr6:161025723-161025724	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79327486	chr6:161025741-161025742	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572272999	chr6:161025774-161025775	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78347018	chr6:161025797-161025798	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554353815	chr6:161025802-161025803	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552084191	chr6:161025825-161025826	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571540029	chr6:161025879-161025880	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537498342	chr6:161025888-161025889	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556937973	chr6:161025895-161025896	Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:160990600-161032600	Strong transcription	Liver	Liver
2	chr6:161022200-161025000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr6:161025000-161026200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr6:161026200-161029400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr6:161031200-161031800	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
6	chr6:161031800-161032000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr6:161032000-161032600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr6:161032600-161034200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr6:161032600-161034400	Weak transcription	Liver	Liver
10	chr6:161055600-161056000	Active TSS	Fetal Heart	heart
11	chr6:161055600-161056000	ZNF genes & repeats	Stomach Mucosa	stomach
12	chr6:161055600-161056200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
13	chr6:161055800-161056000	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
14	chr6:161055800-161056000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr6:161055800-161056000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
16	chr6:161055800-161056000	ZNF genes & repeats	Fetal Brain Male	brain
17	chr6:161055800-161056200	ZNF genes & repeats	Fetal Stomach	stomach
18	chr6:161056200-161069400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr6:161063400-161067800	Weak transcription	Liver	Liver
20	chr6:161067800-161072400	Strong transcription	Liver	Liver

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