Variant report

Variant	nsv970188
Chromosome Location	chr6:161119539-161121517
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOSL2	chr6:161120533-161121049	HepG2	liver:	n/a	n/a
2	FOXA1	chr6:161120687-161121182	HepG2	liver:	n/a	n/a
3	FOXA1	chr6:161120749-161121053	HepG2	liver:	n/a	n/a
4	HEY1	chr6:161119236-161119576	K562	blood:	n/a	n/a
5	HEY1	chr6:161119016-161119558	HepG2	liver:	n/a	n/a
6	JUND	chr6:161120868-161120971	HepG2	liver:	n/a	n/a
7	JUND	chr6:161120637-161121016	HepG2	liver:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PLG-1	chr6:161119525-161119567	ENSG00000224477

Variant related genes	Relation type
PLG	TF binding region

Extended variants
information (count: 107 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574046531	chr6:161119542-161119543	Flanking Active TSS Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs542773494	chr6:161119574-161119575	Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs9456575	chr6:161119578-161119579	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs573249978	chr6:161119628-161119629	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147402215	chr6:161119648-161119649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569176651	chr6:161119684-161119685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139710660	chr6:161119696-161119697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558153962	chr6:161119701-161119702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs202041837	chr6:161119751-161119752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543279030	chr6:161119789-161119790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562967900	chr6:161119825-161119826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188798045	chr6:161119826-161119827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181898290	chr6:161119832-161119833	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565806988	chr6:161119849-161119850	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528169925	chr6:161119856-161119857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552029901	chr6:161119861-161119862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186063163	chr6:161119877-161119878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376704182	chr6:161119880-161119881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145284170	chr6:161119893-161119894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539790677	chr6:161119900-161119901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113525646	chr6:161119901-161119902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572911519	chr6:161119926-161119927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371403418	chr6:161119930-161119931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553091281	chr6:161119948-161119949	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs9458006	chr6:161119974-161119975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553781595	chr6:161119988-161119989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs151018648	chr6:161119998-161119999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538733449	chr6:161120038-161120039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs78172932	chr6:161120053-161120054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7452732	chr6:161120058-161120059	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs543315817	chr6:161120067-161120068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112400110	chr6:161120070-161120071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573843791	chr6:161120071-161120072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375000354	chr6:161120075-161120076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs117979989	chr6:161120078-161120079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559062615	chr6:161120081-161120082	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528221800	chr6:161120096-161120097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551459395	chr6:161120120-161120121	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372801345	chr6:161120123-161120124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191945589	chr6:161120124-161120125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs9458007	chr6:161120138-161120139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181053603	chr6:161120147-161120148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs9458008	chr6:161120154-161120155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567999222	chr6:161120157-161120158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536525794	chr6:161120185-161120186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185888882	chr6:161120190-161120191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566720378	chr6:161120221-161120222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538770710	chr6:161120255-161120256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149658528	chr6:161120258-161120259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145461298	chr6:161120328-161120329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161117200-161119600	Enhancers	HepG2	liver
2	chr6:161117200-161120200	Enhancers	Fetal Intestine Large	intestine
3	chr6:161117600-161120200	Enhancers	Fetal Intestine Small	intestine
4	chr6:161119000-161119600	Flanking Active TSS	Liver	Liver
5	chr6:161119200-161119600	Enhancers	Esophagus	oesophagus
6	chr6:161119600-161120600	Enhancers	Liver	Liver
7	chr6:161119600-161120600	Weak transcription	Esophagus	oesophagus
8	chr6:161119600-161122600	Weak transcription	HepG2	liver
9	chr6:161120200-161122800	Weak transcription	Fetal Intestine Large	intestine
10	chr6:161120600-161120800	Enhancers	Esophagus	oesophagus
11	chr6:161120600-161121000	Flanking Active TSS	Liver	Liver
12	chr6:161121000-161122800	Enhancers	Liver	Liver

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