Variant report

Variant	rs8054218
Chromosome Location	chr16:75252161-75252162
allele	A/G
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	EBF1	chr16:75252159-75252510	GM12878	blood:	n/a	n/a
2	RUNX3	chr16:75252031-75252628	GM12878	blood:	n/a	n/a
3	NFATC1	chr16:75252066-75252518	GM12878	blood:	n/a	n/a
4	BCL11A	chr16:75252105-75252539	GM12878	blood:	n/a	chr16:75252272-75252281 chr16:75252235-75252244 chr16:75252273-75252282
5	TCF12	chr16:75252115-75252668	GM12878	blood:	n/a	chr16:75252647-75252654
6	NFIC	chr16:75252030-75252622	GM12878	blood:	n/a	n/a
7	BATF	chr16:75252126-75252601	GM12878	blood:	n/a	chr16:75252274-75252284 chr16:75252239-75252247
8	PAX5	chr16:75252072-75252634	GM12878	blood:	n/a	chr16:75252235-75252244
9	STAT5A	chr16:75252121-75252612	GM12878	blood:	n/a	chr16:75252235-75252246 chr16:75252522-75252545 chr16:75252273-75252282 chr16:75252272-75252281
10	IRF4	chr16:75252013-75252597	GM12878	blood:	n/a	chr16:75252233-75252247
11	POLR2A	chr16:75252106-75252506	GM12891	blood:	n/a	n/a
12	IRF4	chr16:75252081-75252586	GM12878	blood:	n/a	chr16:75252233-75252247
13	YY1	chr16:75252042-75252370	GM12892	blood:	n/a	n/a
14	YY1	chr16:75252028-75252253	K562	blood:	n/a	n/a
15	BHLHE40	chr16:75252145-75252486	GM12878	blood:	n/a	n/a
16	YY1	chr16:75251933-75252453	GM12878	blood:	n/a	n/a
17	YY1	chr16:75251994-75252424	GM12891	blood:	n/a	n/a
18	YY1	chr16:75252020-75252575	GM12892	blood:	n/a	n/a
19	RUNX3	chr16:75252087-75252601	GM12878	blood:	n/a	n/a
20	ATF2	chr16:75252060-75252530	GM12878	blood:	n/a	n/a
21	MTA3	chr16:75252039-75252772	GM12878	blood:	n/a	n/a
22	YY1	chr16:75252012-75252481	GM12878	blood:	n/a	n/a
23	FOXM1	chr16:75252034-75252631	GM12878	blood:	n/a	n/a
24	BATF	chr16:75252093-75252423	GM12878	blood:	n/a	chr16:75252274-75252284 chr16:75252239-75252247
25	FOXM1	chr16:75252057-75252546	GM12878	blood:	n/a	n/a
26	TCF3	chr16:75252097-75252706	GM12878	blood:	n/a	chr16:75252544-75252558 chr16:75252345-75252358

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:75251309..75253963-chr16:75256152..75258523,2	K562	blood:

Variant related genes	Relation type
CTRB1	TF binding region
ENSG00000168925	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs13331385	0.94[EUR][1000 genomes]
rs13337017	0.85[EUR][1000 genomes]
rs13337397	0.83[EUR][1000 genomes]
rs2287990	0.94[EUR][1000 genomes]
rs28439846	0.85[EUR][1000 genomes]
rs28595463	0.85[EUR][1000 genomes]
rs28690217	0.94[EUR][1000 genomes]
rs2870463	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3743614	0.85[EUR][1000 genomes]
rs3826110	0.85[EUR][1000 genomes]
rs56787417	0.80[EUR][1000 genomes]
rs59409959	0.99[ASN][1000 genomes]
rs60470336	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60852020	0.83[EUR][1000 genomes]
rs60879082	0.81[EUR][1000 genomes]
rs61634868	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6564232	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6564233	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6564234	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6564235	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6564236	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6564237	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66473537	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66535165	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66881382	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67478528	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7185352	0.80[EUR][1000 genomes]
rs7195852	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7197389	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7197746	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7201955	0.83[ASN][1000 genomes]
rs7202844	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7202858	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7202877	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72802372	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72802375	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72804106	0.83[EUR][1000 genomes]
rs73605139	0.83[EUR][1000 genomes]
rs8046145	0.83[EUR][1000 genomes]
rs8048529	0.85[EUR][1000 genomes]
rs8052763	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs8053595	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8056797	0.84[ASN][1000 genomes]
rs8056814	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs8057846	0.83[ASN][1000 genomes]
rs8063014	0.83[EUR][1000 genomes]
rs9921586	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9921930	0.95[ASN][1000 genomes]
rs9924354	0.97[ASN][1000 genomes]
rs9927309	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9940370	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061095	chr16:74519718-75407020	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv532560	chr16:74692406-75411912	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
3	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
4	nsv1056082	chr16:75004990-75295847	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers 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	47 gene(s)	inside rSNPs	diseases
5	nsv833282	chr16:75154171-75330634	Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS 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	36 gene(s)	inside rSNPs	diseases
6	nsv516504	chr16:75223491-75306402	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv523405	chr16:75227969-75342846	Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	esv1806781	chr16:75235390-75307470	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv906909	chr16:75236154-75316074	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
10	esv1792587	chr16:75237936-75305783	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
11	nsv906910	chr16:75251299-75316074	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75243400-75252400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr16:75244400-75252200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr16:75246800-75261000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr16:75249400-75254000	Enhancers	Placenta	Placenta
5	chr16:75250200-75254000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr16:75251200-75252200	Enhancers	GM12878-XiMat	blood
7	chr16:75251400-75252400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr16:75251400-75252400	Weak transcription	Spleen	Spleen
9	chr16:75251400-75256200	Weak transcription	Right Atrium	heart
10	chr16:75251600-75252200	Bivalent Enhancer	HepG2	liver
11	chr16:75251600-75261600	Weak transcription	HMEC	breast
12	chr16:75251800-75252200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr16:75251800-75252200	Weak transcription	Pancreas	Pancrea
14	chr16:75252000-75252400	Enhancers	Brain Inferior Temporal Lobe	brain

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