Variant report

Variant	rs28638273
Chromosome Location	chr16:31433211-31433212
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	IRF4	chr16:31432939-31433335	GM12878	blood:	n/a	n/a
2	BATF	chr16:31432954-31433309	GM12878	blood:	n/a	n/a
3	TCF12	chr16:31432968-31433270	GM12878	blood:	n/a	n/a
4	NFIC	chr16:31432868-31433347	GM12878	blood:	n/a	n/a
5	CHD2	chr16:31433033-31433261	GM12878	blood:	n/a	n/a
6	EP300	chr16:31432983-31433244	GM12878	blood:	n/a	n/a
7	FOXM1	chr16:31432893-31433338	GM12878	blood:	n/a	n/a
8	BCLAF1	chr16:31432896-31433340	GM12878	blood:	n/a	n/a
9	PAX5	chr16:31432789-31433393	GM12878	blood:	n/a	n/a
10	BCL11A	chr16:31432936-31433218	GM12878	blood:	n/a	n/a
11	IRF4	chr16:31432974-31433283	GM12878	blood:	n/a	n/a
12	POU2F2	chr16:31432883-31433301	GM12878	blood:	n/a	n/a
13	ZNF274	chr16:31432583-31433342	GM08714	blood:	n/a	n/a
14	FOS	chr16:31432916-31433247	MCF10A-Er-Src	breast:	n/a	chr16:31433202-31433213
15	SP1	chr16:31432915-31433330	GM12878	blood:	n/a	n/a
16	BCL11A	chr16:31433016-31433296	GM12878	blood:	n/a	n/a
17	EP300	chr16:31432951-31433275	GM12878	blood:	n/a	n/a
18	BATF	chr16:31432988-31433283	GM12878	blood:	n/a	n/a
19	BHLHE40	chr16:31433002-31433227	GM12878	blood:	n/a	n/a
20	PAX5	chr16:31432932-31433281	GM12878	blood:	n/a	n/a
21	ELF1	chr16:31433012-31433406	GM12878	blood:	n/a	n/a
22	EP300	chr16:31432963-31433266	GM12878	blood:	n/a	n/a
23	ATF2	chr16:31432832-31433323	GM12878	blood:	n/a	n/a
24	PML	chr16:31432777-31433359	GM12878	blood:	n/a	n/a
25	SPI1	chr16:31432931-31433231	GM12878	blood:	n/a	n/a
26	RUNX3	chr16:31432864-31433315	GM12878	blood:	n/a	n/a
27	FOS	chr16:31432928-31433241	MCF10A-Er-Src	breast:	n/a	chr16:31433202-31433213
28	NFIC	chr16:31432763-31433243	GM12878	blood:	n/a	n/a
29	TBL1XR1	chr16:31432988-31433251	GM12878	blood:	n/a	n/a
30	FOXM1	chr16:31432819-31433424	GM12878	blood:	n/a	n/a
31	RUNX3	chr16:31432813-31433384	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:31431135..31433955-chr16:31436468..31439057,3	K562	blood:
2	chr16:31427995..31429732-chr16:31431451..31434412,2	K562	blood:

Variant related genes	Relation type
ITGAD	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11863224	1.00[EUR][1000 genomes]
rs13332937	1.00[EUR][1000 genomes]
rs13333019	1.00[EUR][1000 genomes]
rs13337777	1.00[EUR][1000 genomes]
rs17839495	1.00[AMR][1000 genomes]
rs2230427	1.00[EUR][1000 genomes]
rs28475579	1.00[EUR][1000 genomes]
rs28735967	1.00[EUR][1000 genomes]
rs4076526	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56032105	1.00[EUR][1000 genomes]
rs58260800	1.00[EUR][1000 genomes]
rs58585879	1.00[EUR][1000 genomes]
rs59137066	1.00[EUR][1000 genomes]
rs59843953	1.00[EUR][1000 genomes]
rs7184740	1.00[EUR][1000 genomes]
rs7192438	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7194219	1.00[EUR][1000 genomes]
rs7197892	1.00[EUR][1000 genomes]
rs74015528	1.00[EUR][1000 genomes]
rs74015530	1.00[EUR][1000 genomes]
rs74015540	1.00[EUR][1000 genomes]
rs8052027	1.00[EUR][1000 genomes]
rs9889047	1.00[AMR][1000 genomes]
rs9925472	1.00[EUR][1000 genomes]
rs9932709	1.00[EUR][1000 genomes]
rs9939859	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059459	chr16:31299088-31462251	Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv542901	chr16:31299088-31462251	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv3392534	chr16:31303038-31573066	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	104 gene(s)	inside rSNPs	diseases
4	nsv833194	chr16:31358179-31528545	Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
5	nsv905747	chr16:31394179-31888684	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	123 gene(s)	inside rSNPs	diseases
6	nsv1066280	chr16:31396464-31452067	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv905748	chr16:31427678-31559220	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	94 gene(s)	inside rSNPs	diseases
8	nsv905749	chr16:31427678-31565597	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	96 gene(s)	inside rSNPs	diseases
9	nsv905750	chr16:31427678-31587662	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	98 gene(s)	inside rSNPs	diseases
10	nsv905751	chr16:31431360-31489033	Bivalent Enhancer Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	82 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31411800-31438600	Weak transcription	Spleen	Spleen
2	chr16:31424400-31439000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr16:31428000-31438800	Weak transcription	Gastric	stomach
4	chr16:31430600-31434000	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr16:31430800-31435400	Enhancers	Primary T cells fromperipheralblood	blood
6	chr16:31431200-31435400	Enhancers	GM12878-XiMat	blood
7	chr16:31431400-31433800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr16:31432800-31433600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr16:31433200-31434000	Enhancers	Primary T killer memory cells from peripheral blood	blood

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