Variant report

Variant	rs9980152
Chromosome Location	chr21:15955779-15955780
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	MYC	chr21:15955434-15956573	K562	blood:	n/a	n/a
2	IRF1	chr21:15955367-15957712	K562	blood:	n/a	chr21:15955607-15955621
3	MAFK	chr21:15955636-15956393	K562	blood:	n/a	n/a
4	MXI1	chr21:15955636-15956401	K562	blood:	n/a	n/a
5	EP300	chr21:15955223-15956056	GM12878	blood:	n/a	n/a
6	ARID3A	chr21:15955288-15957571	K562	blood:	n/a	n/a
7	CUX1	chr21:15955332-15957848	K562	blood:	n/a	n/a
8	TAF1	chr21:15955601-15955859	K562	blood:	n/a	n/a
9	IRF1	chr21:15955376-15958002	K562	blood:	n/a	chr21:15955607-15955621
10	YY1	chr21:15955544-15955829	K562	blood:	n/a	n/a
11	POLR2A	chr21:15955596-15955840	K562	blood:	n/a	n/a
12	UBTF	chr21:15955495-15956412	K562	blood:	n/a	n/a
13	POLR2A	chr21:15955627-15955906	K562	blood:	n/a	n/a
14	TBP	chr21:15955585-15956149	K562	blood:	n/a	n/a
15	JUND	chr21:15955549-15955925	K562	blood:	n/a	n/a
16	MYC	chr21:15955558-15957705	K562	blood:	n/a	n/a
17	HEY1	chr21:15955561-15955867	K562	blood:	n/a	n/a
18	TBL1XR1	chr21:15955283-15956656	K562	blood:	n/a	n/a
19	EP300	chr21:15955225-15956554	K562	blood:	n/a	chr21:15956378-15956387
20	RFX5	chr21:15955287-15955912	K562	blood:	n/a	n/a
21	ZMIZ1	chr21:15955646-15956045	K562	blood:	n/a	n/a
22	UBTF	chr21:15955600-15956186	K562	blood:	n/a	n/a
23	GATA1	chr21:15953823-15957711	K562	blood:	n/a	chr21:15954420-15954427 chr21:15954420-15954427 chr21:15956379-15956388 chr21:15954420-15954427
24	MAFF	chr21:15955743-15956503	K562	blood:	n/a	n/a
25	ZNF384	chr21:15955684-15956788	K562	blood:	n/a	n/a
26	POLR2A	chr21:15955533-15955994	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:15916155..15921451-chr21:15952417..15958327,11	K562	blood:

Variant related genes	Relation type
SAMSN1	TF binding region
ENSG00000155307	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs2822783	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2822788	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2822790	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2822791	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.87[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2822793	0.85[TSI][hapmap]
rs2822795	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2822798	0.85[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2822799	0.85[TSI][hapmap]
rs2822800	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28441569	0.92[ASN][1000 genomes]
rs28452296	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7279839	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7280564	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7281036	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs73348050	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8132313	1.00[CHB][hapmap];0.88[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8132650	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059591	chr21:15835325-15969195	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1057934	chr21:15863224-15969195	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv834045	chr21:15900678-16112850	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv834046	chr21:15903792-16077369	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv470879	chr21:15946828-15964278	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv587049	chr21:15954103-15962331	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15954800-15956400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr21:15954800-15957200	Active TSS	K562	blood
3	chr21:15954800-15961400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr21:15954800-15961800	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr21:15954800-15962000	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr21:15955000-15957400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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