Variant report

Variant	rs11713312
Chromosome Location	chr3:54182242-54182243
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:54174187..54175829-chr3:54181314..54184200,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11130398	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11914927	0.95[ASN][1000 genomes]
rs11917010	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.94[ASN][1000 genomes]
rs11926147	0.81[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12635465	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17802213	0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2067581	0.95[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs28458274	0.81[ASN][1000 genomes]
rs28613537	0.95[ASN][1000 genomes]
rs4440155	0.80[ASN][1000 genomes]
rs4927999	0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs4928002	0.81[ASN][1000 genomes]
rs56349750	0.92[ASN][1000 genomes]
rs59072955	0.94[ASN][1000 genomes]
rs6445629	0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs6794229	1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs6799361	0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs6803515	0.83[JPT][hapmap];0.80[ASN][1000 genomes]
rs725993	1.00[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];0.83[YRI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73085924	0.94[ASN][1000 genomes]
rs73085925	0.92[ASN][1000 genomes]
rs73085931	0.83[ASN][1000 genomes]
rs73085965	0.80[ASN][1000 genomes]
rs7613759	0.95[CEU][hapmap];0.92[CHB][hapmap];0.88[JPT][hapmap];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7633430	1.00[CEU][hapmap];0.89[TSI][hapmap];0.83[YRI][hapmap];0.93[EUR][1000 genomes]
rs881700	0.90[JPT][hapmap]
rs9311526	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs9879718	1.00[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003621	chr3:53448934-54425322	Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1006990	chr3:53849510-54285212	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1014595	chr3:53944473-54846754	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1014157	chr3:54168755-54332321	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:54177200-54183000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr3:54180200-54183800	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr3:54181000-54195000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:54181400-54183200	Weak transcription	Right Atrium	heart
5	chr3:54181400-54183200	Weak transcription	Spleen	Spleen
6	chr3:54181600-54183400	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr3:54181600-54192000	Weak transcription	Stomach Smooth Muscle	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links