Variant report

Variant	rs7221553
Chromosome Location	chr17:17186682-17186683
allele	A/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	SPI1	chr17:17186440-17186818	GM12891	blood:	n/a	n/a
2	IRF1	chr17:17186502-17186731	K562	blood:	n/a	n/a
3	SPI1	chr17:17186467-17186887	GM12891	blood:	n/a	n/a
4	SPI1	chr17:17186490-17186812	GM12878	blood:	n/a	n/a
5	SPI1	chr17:17186495-17186685	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:17138280..17141930-chr17:17183181..17187644,4	MCF-7	breast:
2	chr17:17185180..17188227-chr17:17188770..17192072,3	K562	blood:
3	chr17:17185679..17187797-chr17:17192655..17194477,2	K562	blood:

Variant related genes	Relation type
COPS3	TF binding region
ENSG00000154803	Chromatin interaction
ENSG00000266498	Chromatin interaction
ENSG00000264187	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs12453455	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12600589	0.90[ASN][1000 genomes]
rs1630656	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1708617	0.92[ASN][1000 genomes]
rs1708621	0.92[ASN][1000 genomes]
rs1708624	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1708625	0.83[EUR][1000 genomes]
rs1708628	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1736204	0.81[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs1736205	0.89[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs1736208	0.94[ASN][1000 genomes]
rs1736209	0.94[ASN][1000 genomes]
rs1736211	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs1736212	0.92[ASN][1000 genomes]
rs1736216	0.92[ASN][1000 genomes]
rs1736217	0.92[ASN][1000 genomes]
rs1736221	0.90[ASN][1000 genomes]
rs2012954	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2018781	0.92[ASN][1000 genomes]
rs2292527	0.88[ASN][1000 genomes]
rs2472689	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36079048	0.88[ASN][1000 genomes]
rs3866959	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4985760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62066065	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62066066	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6502564	0.80[ASN][1000 genomes]
rs6502568	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6502569	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6502570	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6502571	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7217560	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7220577	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7220827	0.87[EUR][1000 genomes]
rs7224598	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7225876	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8066090	0.92[ASN][1000 genomes]
rs8080386	0.90[ASN][1000 genomes]
rs9892352	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9894565	0.92[ASN][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	nsv833380	chr17:17088416-17241206	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1065811	chr17:17104760-17225204	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv833382	chr17:17124329-17305683	Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv469777	chr17:17127385-17272698	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv482546	chr17:17127385-17272698	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv9499	chr17:17181611-17187670	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17185200-17186800	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr17:17185200-17187200	Weak transcription	Colon Smooth Muscle	Colon
3	chr17:17185400-17186800	Enhancers	GM12878-XiMat	blood
4	chr17:17185600-17187000	Enhancers	K562	blood
5	chr17:17185600-17189400	Weak transcription	HepG2	liver
6	chr17:17186000-17186800	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr17:17186000-17186800	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr17:17186600-17187000	Enhancers	Primary hematopoietic stem cells short term culture	blood

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