Variant report

Variant	rs60895247
Chromosome Location	chr16:75736363-75736364
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:67)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:67 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr16:75736195-75736569	K562	blood:	n/a	chr16:75736363-75736374
2	MYC	chr16:75736256-75736469	K562	blood:	n/a	n/a
3	MYC	chr16:75736175-75736568	K562	blood:	n/a	n/a
4	RCOR1	chr16:75736180-75736549	K562	blood:	n/a	n/a
5	CEBPB	chr16:75736059-75736453	K562	blood:	n/a	n/a
6	E2F6	chr16:75736197-75736476	K562	blood:	n/a	chr16:75736363-75736374
7	BHLHE40	chr16:75736172-75736583	K562	blood:	n/a	n/a
8	CBX3	chr16:75736125-75736537	K562	blood:	n/a	n/a
9	USF2	chr16:75736241-75736494	K562	blood:	n/a	n/a
10	E2F6	chr16:75736265-75736471	K562	blood:	n/a	chr16:75736363-75736374
11	ATF3	chr16:75736081-75736463	K562	blood:	n/a	n/a
12	EP300	chr16:75736168-75736543	K562	blood:	n/a	n/a
13	MAZ	chr16:75736173-75736512	K562	blood:	n/a	n/a
14	TBL1XR1	chr16:75736189-75736486	K562	blood:	n/a	n/a
15	TEAD4	chr16:75736061-75736585	K562	blood:	n/a	n/a
16	ELF1	chr16:75736191-75736603	K562	blood:	n/a	n/a
17	ATF1	chr16:75736223-75736529	K562	blood:	n/a	n/a
18	FOS	chr16:75736205-75736469	MCF10A-Er-Src	breast:	n/a	n/a
19	STAT5A	chr16:75736194-75736549	K562	blood:	n/a	n/a
20	GATA2	chr16:75736111-75736574	K562	blood:	n/a	n/a
21	USF1	chr16:75736167-75736585	K562	blood:	n/a	n/a
22	PML	chr16:75736074-75736554	K562	blood:	n/a	n/a
23	RCOR1	chr16:75736175-75736469	K562	blood:	n/a	n/a
24	FOS	chr16:75736127-75736443	MCF10A-Er-Src	breast:	n/a	n/a
25	CEBPB	chr16:75736051-75736568	K562	blood:	n/a	n/a
26	MXI1	chr16:75736222-75736438	K562	blood:	n/a	n/a
27	ARID3A	chr16:75736196-75736523	K562	blood:	n/a	n/a
28	CEBPD	chr16:75736111-75736580	K562	blood:	n/a	n/a
29	MAX	chr16:75736180-75736518	K562	blood:	n/a	n/a
30	STAT5A	chr16:75736105-75736562	K562	blood:	n/a	chr16:75736160-75736168
31	POLR2A	chr16:75736308-75736469	K562	blood:	n/a	n/a
32	POLR2A	chr16:75736131-75736492	K562	blood:	n/a	n/a
33	YY1	chr16:75736266-75736460	K562	blood:	n/a	n/a
34	GATA2	chr16:75736145-75736514	K562	blood:	n/a	n/a
35	FOS	chr16:75736137-75736475	MCF10A-Er-Src	breast:	n/a	n/a
36	FOSL1	chr16:75736199-75736401	K562	blood:	n/a	n/a
37	GATA2	chr16:75736214-75736549	K562	blood:	n/a	n/a
38	CCNT2	chr16:75736019-75736466	K562	blood:	n/a	n/a
39	SPI1	chr16:75736351-75736501	K562	blood:	n/a	n/a
40	FOSL1	chr16:75736231-75736434	K562	blood:	n/a	n/a
41	TBL1XR1	chr16:75736243-75736526	K562	blood:	n/a	n/a
42	CEBPB	chr16:75736103-75736430	Hela-S3	cervix:	n/a	n/a
43	GATA1	chr16:75736121-75736694	PBDE	blood:	n/a	n/a
44	CEBPD	chr16:75736102-75736520	K562	blood:	n/a	n/a
45	GATA1	chr16:75735621-75736641	K562	blood:	n/a	n/a
46	MAX	chr16:75736217-75736565	K562	blood:	n/a	n/a
47	FOS	chr16:75736146-75736417	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr16:75736226-75736433	K562	blood:	n/a	n/a
49	POLR2A	chr16:75736156-75736537	K562	blood:	n/a	n/a
50	MYC	chr16:75736168-75736526	K562	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:75730757..75732886-chr16:75734189..75736396,2	K562	blood:
2	chr16:75736237..75738500-chr16:75741844..75744257,2	K562	blood:

No data

Variant related genes	Relation type
RN7SL520P	TF binding region
ENSG00000214325	TF binding region
ENSG00000261424	Chromatin interaction
ENSG00000240199	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1030264	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10871314	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11643215	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12443899	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12596083	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12597472	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17764918	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1865493	0.86[EUR][1000 genomes]
rs2042406	0.82[ASN][1000 genomes]
rs2059261	0.80[AMR][1000 genomes]
rs2903096	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs35977374	0.81[AMR][1000 genomes]
rs4633754	0.81[AMR][1000 genomes]
rs4887835	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4887836	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4887837	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4888448	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4888449	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4888451	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4888452	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4888455	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs56954102	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs57208266	0.80[AMR][1000 genomes]
rs58091977	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs58264015	0.80[AMR][1000 genomes]
rs58533792	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs58846463	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs59449831	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs60775162	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61183686	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7187419	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7192453	0.80[ASN][1000 genomes]
rs8048533	0.81[AMR][1000 genomes]
rs8048806	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8053219	0.80[AMR][1000 genomes]
rs9921364	0.82[ASN][1000 genomes]
rs9930993	0.83[ASN][1000 genomes]
rs9931730	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv532562	chr16:75614947-76371158	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1062010	chr16:75628562-75825725	Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1064880	chr16:75628562-75895699	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv542960	chr16:75628562-75895699	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv1065543	chr16:75631306-75800170	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	esv3390407	chr16:75701870-75751074	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv906930	chr16:75728261-75872464	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75735000-75736800	Enhancers	K562	blood
2	chr16:75735000-75737600	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr16:75735600-75736400	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr16:75736200-75737800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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