Variant report

Variant	rs9907565
Chromosome Location	chr17:46535345-46535346
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	CTCF	chr17:46535200-46535350	GM06990	blood:	n/a	n/a
2	CTCF	chr17:46534208-46535512	SK-N-SH	brain:	n/a	chr17:46534792-46534808 chr17:46534791-46534809 chr17:46534793-46534806
3	CTCF	chr17:46534032-46535649	A549	lung:	n/a	chr17:46534792-46534808 chr17:46534791-46534809 chr17:46534793-46534806
4	CTCF	chr17:46535240-46535390	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:46500936..46503842-chr17:46534803..46536418,2	K562	blood:
2	chr17:46523948..46525611-chr17:46533793..46535794,2	K562	blood:
3	chr17:46534407..46535828-chr17:46695754..46696608,3	K562	blood:

Variant related genes	Relation type
ENSG00000264451	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10514944	1.00[CEU][hapmap];0.82[JPT][hapmap]
rs1396869	0.88[ASN][1000 genomes]
rs16954937	1.00[YRI][hapmap]
rs16955293	1.00[YRI][hapmap]
rs16955495	1.00[YRI][hapmap]
rs16955960	1.00[CEU][hapmap];0.82[JPT][hapmap]
rs16956501	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16957085	1.00[CEU][hapmap];0.92[CHB][hapmap];0.88[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16957299	0.92[CHB][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs17621689	1.00[CEU][hapmap];0.80[JPT][hapmap]
rs17623416	1.00[CEU][hapmap];0.83[JPT][hapmap]
rs17623518	1.00[CEU][hapmap];0.82[JPT][hapmap]
rs17694404	1.00[CEU][hapmap]
rs2271264	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34463696	0.93[ASN][1000 genomes]
rs3809744	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55641965	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55751709	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55765969	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55912545	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56103412	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56311919	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56371910	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72827869	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72827873	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72827897	0.88[ASN][1000 genomes]
rs8074951	1.00[YRI][hapmap]
rs9899997	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9913716	0.85[CHB][hapmap];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833469	chr17:46491849-46709406	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
2	esv3420538	chr17:46504944-46861553	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	369 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46529000-46535400	Enhancers	Fetal Thymus	thymus
2	chr17:46534800-46535400	Enhancers	Primary T helper naive cells from peripheral blood	blood
3	chr17:46534800-46535400	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr17:46534800-46535400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr17:46534800-46535600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
6	chr17:46534800-46537000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr17:46535000-46537400	Enhancers	GM12878-XiMat	blood
8	chr17:46535000-46540800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr17:46535200-46536400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr17:46535200-46540200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr17:46535200-46540200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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