Variant report

Variant	rs2213265
Chromosome Location	chr16:32651842-32651843
allele	C/T
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	RFX5	chr16:32651683-32651883	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000261111	TF binding region

Extended variants
information (count: 442 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1505126	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1505127	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1827714	0.85[AMR][1000 genomes]
rs1910815	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2312726	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs28452084	0.85[AMR][1000 genomes]
rs28501381	0.85[AMR][1000 genomes]
rs28505143	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs28537091	0.85[AMR][1000 genomes]
rs28576411	0.90[AFR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28582409	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28585634	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28633766	0.85[AMR][1000 genomes]
rs28634791	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28635672	0.85[AMR][1000 genomes]
rs28635947	0.85[AMR][1000 genomes]
rs28639935	0.85[AMR][1000 genomes]
rs28663424	0.90[AFR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28690075	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28700057	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28705167	0.85[AMR][1000 genomes]
rs28718722	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs28814662	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28818241	0.85[AMR][1000 genomes]
rs28850939	0.85[AMR][1000 genomes]
rs28896002	0.85[AMR][1000 genomes]
rs62044830	0.85[AMR][1000 genomes]
rs62044831	0.85[AMR][1000 genomes]
rs62044833	0.85[AMR][1000 genomes]
rs62046074	0.85[AMR][1000 genomes]
rs62046075	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62046096	0.85[AMR][1000 genomes]
rs62046116	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62046117	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9937978	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:407 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063470	chr16:31971508-32655511	Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv1063872	chr16:31974698-32956058	Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
3	nsv1067090	chr16:31998170-32907428	ZNF genes & repeats Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
4	nsv905766	chr16:32001824-32671819	Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	esv1845174	chr16:32001824-32815135	Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
6	esv1843257	chr16:32005800-32662900	Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	esv1843591	chr16:32005800-32734702	Bivalent/Poised TSS ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
8	nsv905768	chr16:32015746-32699321	Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
9	nsv1064388	chr16:32027966-32655283	Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
10	nsv1057254	chr16:32027966-32915501	ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
11	nsv1064971	chr16:32033374-32655511	ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
12	nsv1064003	chr16:32033374-32743469	ZNF genes & repeats Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
13	nsv1059261	chr16:32033374-32879772	ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
14	nsv1058855	chr16:32033374-32915501	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
15	nsv1064461	chr16:32033374-32956058	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
16	esv3401400	chr16:32054167-32993916	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
17	nsv1062296	chr16:32058483-32655511	Bivalent/Poised TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island lncRNA	26 gene(s)	inside rSNPs	diseases
18	nsv1056990	chr16:32058483-33013850	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
19	nsv1062667	chr16:32058483-33035996	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
20	nsv1065533	chr16:32058483-33054646	ZNF genes & repeats Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
21	nsv1065606	chr16:32080861-32655511	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island lncRNA	23 gene(s)	inside rSNPs	diseases
22	nsv1057227	chr16:32080861-32743469	ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island lncRNA	30 gene(s)	inside rSNPs	diseases
23	nsv1063972	chr16:32080861-32791257	Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription	TF binding region CpG island lncRNA	33 gene(s)	inside rSNPs	diseases
24	nsv1060799	chr16:32080861-32879772	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
25	nsv1067067	chr16:32080861-32915501	Bivalent/Poised TSS Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
26	nsv1060944	chr16:32080861-32954713	Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
27	nsv1064268	chr16:32080861-32956058	Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
28	nsv1063680	chr16:32080861-33054646	Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
29	nsv1061474	chr16:32092822-32907428	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
30	nsv1061520	chr16:32092822-32915501	Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
31	nsv1060168	chr16:32092822-32950241	Bivalent/Poised TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
32	nsv1063122	chr16:32092822-32954713	Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
33	nsv1056741	chr16:32092822-32956058	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
34	nsv1058069	chr16:32092822-33054646	ZNF genes & repeats Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
35	esv3337080	chr16:32100987-33041130	Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
36	esv3394991	chr16:32103119-33044376	ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
37	nsv905776	chr16:32103919-32671819	Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island lncRNA	25 gene(s)	inside rSNPs	diseases
38	esv3529103	chr16:32104939-33041147	ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
39	esv3529104	chr16:32104939-33041147	Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
40	nsv1062366	chr16:32113670-32655511	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island lncRNA	22 gene(s)	inside rSNPs	diseases
41	nsv1055488	chr16:32113670-32743469	ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription	TF binding region CpG island lncRNA	29 gene(s)	inside rSNPs	diseases
42	nsv1058828	chr16:32113670-32791257	ZNF genes & repeats Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island lncRNA	32 gene(s)	inside rSNPs	diseases
43	nsv1058970	chr16:32113670-33054646	Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
44	nsv1063843	chr16:32113670-33097410	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
45	nsv905780	chr16:32123984-32671819	Bivalent/Poised TSS ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Genic enhancers	TF binding region CpG island lncRNA	25 gene(s)	inside rSNPs	diseases
46	nsv905782	chr16:32137965-32671819	Enhancers ZNF genes & repeats Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island lncRNA	24 gene(s)	inside rSNPs	diseases
47	nsv905786	chr16:32139621-32671819	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island lncRNA	24 gene(s)	inside rSNPs	diseases
48	nsv1061721	chr16:32146874-32655283	ZNF genes & repeats Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island lncRNA	21 gene(s)	inside rSNPs	diseases
49	nsv1064674	chr16:32146874-32655511	ZNF genes & repeats Active TSS Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island lncRNA	21 gene(s)	inside rSNPs	diseases
50	nsv1066536	chr16:32146874-32743469	ZNF genes & repeats Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island lncRNA	28 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:32644800-32654400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell

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