Variant report

Variant	nsv965783
Chromosome Location	chr6:161155868-161156865
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	ATF2	chr6:161156066-161157128	GM12878	blood:	n/a	n/a
2	ATF2	chr6:161156393-161157074	GM12878	blood:	n/a	n/a
3	BATF	chr6:161156225-161157003	GM12878	blood:	n/a	n/a
4	BATF	chr6:161156411-161156983	GM12878	blood:	n/a	n/a
5	BCL11A	chr6:161156439-161156943	GM12878	blood:	n/a	n/a
6	BCL3	chr6:161156386-161156997	GM12878	blood:	n/a	n/a
7	BCL3	chr6:161156575-161157006	GM12878	blood:	n/a	n/a
8	BCLAF1	chr6:161156207-161157052	GM12878	blood:	n/a	n/a
9	BHLHE40	chr6:161156617-161156923	GM12878	blood:	n/a	n/a
10	CREB1	chr6:161156552-161156961	GM12878	blood:	n/a	n/a
11	CTCF	chr6:161156540-161156690	GM06990	blood:	n/a	n/a
12	CTCF	chr6:161156580-161156730	GM12873	blood:	n/a	chr6:161156686-161156695
13	CTCF	chr6:161156420-161156570	GM12873	blood:	n/a	n/a
14	CTCF	chr6:161156600-161156750	GM06990	blood:	n/a	chr6:161156686-161156695
15	CTCF	chr6:161156520-161156670	GM12867	blood:	n/a	n/a
16	CTCF	chr6:161156560-161156710	GM12872	blood:	n/a	chr6:161156686-161156695
17	CTCF	chr6:161156080-161156230	GM12867	blood:	n/a	n/a
18	CUX1	chr6:161156585-161156741	GM12878	blood:	n/a	n/a
19	EBF1	chr6:161156305-161156748	GM12878	blood:	n/a	chr6:161156517-161156528
20	EBF1	chr6:161156363-161156832	GM12878	blood:	n/a	chr6:161156517-161156528
21	EBF1	chr6:161156369-161156720	GM12878	blood:	n/a	chr6:161156517-161156528
22	EP300	chr6:161156481-161156953	GM12878	blood:	n/a	chr6:161156772-161156786
23	EP300	chr6:161156519-161156896	GM12878	blood:	n/a	chr6:161156772-161156786
24	EP300	chr6:161156700-161156908	GM12878	blood:	n/a	chr6:161156772-161156786
25	EP300	chr6:161156766-161156860	GM12878	blood:	n/a	chr6:161156772-161156786
26	FOXM1	chr6:161156123-161157148	GM12878	blood:	n/a	n/a
27	FOXM1	chr6:161156360-161157073	GM12878	blood:	n/a	n/a
28	IKZF1	chr6:161156342-161156880	GM12878	blood:	n/a	n/a
29	IRF4	chr6:161156303-161156981	GM12878	blood:	n/a	n/a
30	IRF4	chr6:161156516-161157045	GM12878	blood:	n/a	n/a
31	JUND	chr6:161156537-161156992	GM12878	blood:	n/a	n/a
32	MAFF	chr6:161155668-161156027	HepG2	liver:	n/a	chr6:161155829-161155847
33	MAFF	chr6:161155689-161155985	K562	blood:	n/a	chr6:161155829-161155847
34	MAFK	chr6:161155673-161156019	HepG2	liver:	n/a	chr6:161155831-161155847 chr6:161155832-161155852 chr6:161155831-161155846
35	MAFK	chr6:161155670-161156010	IMR90	lung:	n/a	chr6:161155831-161155847 chr6:161155832-161155852 chr6:161155831-161155846
36	MAFK	chr6:161155674-161155949	K562	blood:	n/a	chr6:161155831-161155847 chr6:161155832-161155852 chr6:161155831-161155846
37	MAFK	chr6:161155658-161156028	HepG2	liver:	n/a	chr6:161155831-161155847 chr6:161155832-161155852 chr6:161155831-161155846
38	MAFK	chr6:161155709-161155880	Hela-S3	cervix:	n/a	chr6:161155831-161155847 chr6:161155832-161155852 chr6:161155831-161155846
39	MEF2A	chr6:161156389-161157113	GM12878	blood:	n/a	chr6:161156979-161156994
40	MEF2A	chr6:161156539-161156975	GM12878	blood:	n/a	n/a
41	MEF2C	chr6:161156516-161157028	GM12878	blood:	n/a	chr6:161156979-161156994
42	MTA3	chr6:161155995-161157089	GM12878	blood:	n/a	n/a
43	NFATC1	chr6:161156293-161157051	GM12878	blood:	n/a	n/a
44	NFIC	chr6:161156155-161157123	GM12878	blood:	n/a	n/a
45	NFIC	chr6:161156304-161157199	GM12878	blood:	n/a	n/a
46	PML	chr6:161156659-161156947	GM12878	blood:	n/a	n/a
47	POU2F2	chr6:161156755-161156919	GM12878	blood:	n/a	n/a
48	RUNX3	chr6:161156242-161157009	GM12878	blood:	n/a	n/a
49	RUNX3	chr6:161156303-161157071	GM12878	blood:	n/a	n/a
50	SRF	chr6:161156727-161156970	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:161154056..161155892-chr6:161501781..161503522,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LPA-5	chr6:161156572-161157283	NONHSAT115913

Variant related genes	Relation type
PLG	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369369069	chr6:161155888-161155889	Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs188541245	chr6:161155942-161155943	Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs575661029	chr6:161156005-161156006	Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs372855669	chr6:161156026-161156027	Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs200166896	chr6:161156031-161156032	Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs145303102	chr6:161156040-161156041	Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs7450435	chr6:161156043-161156044	Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs35192428	chr6:161156056-161156057	Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs59266595	chr6:161156070-161156071	Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs543643510	chr6:161156230-161156231	Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs6905971	chr6:161156231-161156232	Strong transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs573140652	chr6:161156240-161156241	Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs573867808	chr6:161156259-161156260	Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs9458020	chr6:161156296-161156297	Strong transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs35357019	chr6:161156309-161156310	Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs554472615	chr6:161156313-161156314	Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs149371473	chr6:161156328-161156329	Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs192271806	chr6:161156332-161156333	Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs544953044	chr6:161156368-161156369	Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs115082416	chr6:161156415-161156416	Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs530581583	chr6:161156417-161156418	Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs7744507	chr6:161156467-161156468	Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs575344972	chr6:161156527-161156528	Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs561186490	chr6:161156565-161156566	Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs147492830	chr6:161156666-161156667	Strong transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs56093624	chr6:161156667-161156668	Strong transcription Enhancers	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs551376656	chr6:161156799-161156800	Strong transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs184289327	chr6:161156816-161156817	Strong transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161140800-161175200	Strong transcription	Liver	Liver
2	chr6:161154200-161156000	Enhancers	GM12878-XiMat	blood
3	chr6:161156000-161156200	Flanking Active TSS	GM12878-XiMat	blood
4	chr6:161156200-161156400	Enhancers	GM12878-XiMat	blood
5	chr6:161156400-161156600	Flanking Active TSS	GM12878-XiMat	blood
6	chr6:161156600-161158600	Enhancers	GM12878-XiMat	blood

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