Variant report

Variant	rs16973266
Chromosome Location	chr16:71537550-71537551
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:71515566..71517398-chr16:71536586..71538613,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000157429	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10500558	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs11640165	0.83[AMR][1000 genomes]
rs11643216	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11645711	0.83[AMR][1000 genomes]
rs11647749	0.88[AMR][1000 genomes]
rs1477386	0.82[JPT][hapmap]
rs1609868	0.85[AMR][1000 genomes]
rs1609869	1.00[ASW][hapmap];0.84[JPT][hapmap];0.81[MEX][hapmap];0.91[MKK][hapmap];0.85[TSI][hapmap];0.86[AMR][1000 genomes]
rs172649	0.82[JPT][hapmap]
rs172650	0.82[JPT][hapmap]
rs2288487	0.82[CHB][hapmap];0.86[AMR][1000 genomes]
rs2288488	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2303788	0.80[CHB][hapmap];0.81[MEX][hapmap];0.83[MKK][hapmap];0.82[TSI][hapmap];0.87[AMR][1000 genomes]
rs2432520	0.82[JPT][hapmap]
rs2432524	0.93[CHB][hapmap]
rs35373081	0.86[AMR][1000 genomes]
rs36063092	0.86[AMR][1000 genomes]
rs3813743	0.82[CHB][hapmap]
rs4149498	1.00[ASW][hapmap];0.82[CHB][hapmap];0.84[JPT][hapmap];1.00[LWK][hapmap];0.88[MKK][hapmap];0.88[TSI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs4503795	0.84[AMR][1000 genomes]
rs58134724	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes]
rs58452291	0.81[ASN][1000 genomes]
rs58719913	0.88[AMR][1000 genomes]
rs7184543	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs7186241	0.83[AMR][1000 genomes]
rs7187165	0.82[CHB][hapmap]
rs7187354	0.82[CHB][hapmap]
rs7188342	0.87[CHB][hapmap]
rs7199026	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs7200431	0.82[CHB][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7202662	0.82[CHB][hapmap];0.84[JPT][hapmap];0.85[TSI][hapmap];0.83[AMR][1000 genomes]
rs7202953	0.81[ASN][1000 genomes]
rs730470	0.87[AMR][1000 genomes]
rs74026831	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs74027246	0.86[AMR][1000 genomes]
rs8044561	0.82[CHB][hapmap]
rs8057748	1.00[YRI][hapmap]
rs8058294	0.87[CHB][hapmap];0.83[JPT][hapmap]
rs9926110	0.82[CHB][hapmap]
rs9928243	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs9933680	0.82[CHB][hapmap]
rs9935426	0.82[CHB][hapmap]
rs9936249	0.82[CHB][hapmap]
rs9940771	0.82[CHB][hapmap]

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	nsv949461	chr16:71196153-71579711	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv906892	chr16:71526720-71570413	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs16973266	SLC9A5	cis	cerebellum	SCAN
rs16973266	HSF4	cis	parietal	SCAN
rs16973266	SLC12A4	cis	parietal	SCAN
rs16973266	ATXN1L	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71536800-71537800	Enhancers	Pancreas	Pancrea

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