Variant report

Variant	rs9484553
Chromosome Location	chr6:142112455-142112456
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1015163	0.89[EUR][1000 genomes]
rs1016245	0.87[EUR][1000 genomes]
rs12192435	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12202995	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12209597	0.87[EUR][1000 genomes]
rs12210846	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2064481	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2207235	0.89[EUR][1000 genomes]
rs2223924	0.86[EUR][1000 genomes]
rs67686972	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6900990	1.00[ASN][1000 genomes]
rs6916415	0.91[CEU][hapmap];0.85[JPT][hapmap]
rs6916753	0.86[EUR][1000 genomes]
rs6917355	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6927997	0.86[EUR][1000 genomes]
rs6936548	0.89[EUR][1000 genomes]
rs6940233	0.89[EUR][1000 genomes]
rs7450452	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7750605	0.89[EUR][1000 genomes]
rs7755310	0.87[EUR][1000 genomes]
rs7762021	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9285495	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9321840	0.87[EUR][1000 genomes]
rs9321841	0.89[EUR][1000 genomes]
rs9484552	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9484557	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9484558	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9484559	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9484564	0.86[EUR][1000 genomes]
rs9484565	0.89[EUR][1000 genomes]
rs9496143	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9496146	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9496163	0.89[EUR][1000 genomes]
rs9496164	0.89[EUR][1000 genomes]
rs9496166	0.89[EUR][1000 genomes]
rs9496167	0.89[EUR][1000 genomes]
rs9496168	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015835	chr6:141713451-142233317	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv538455	chr6:141713451-142233317	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv2755719	chr6:141721907-142123546	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1025706	chr6:141909953-142131906	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv538456	chr6:141909953-142131906	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1032184	chr6:141909953-142234993	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1032444	chr6:142066183-142199093	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv604789	chr6:142074024-142112455	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv523425	chr6:142074024-142130009	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv525384	chr6:142074024-142130009	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv3474290	chr6:142110443-142115079	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv3474291	chr6:142110443-142115079	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv12451	chr6:142110591-142114931	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv830823	chr6:142111420-142305417	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9484553	CITED2	cis	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142111800-142112600	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr6:142111800-142112600	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr6:142111800-142112800	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr6:142112200-142112600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr6:142112200-142112600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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