Variant report

Variant	rs13072597
Chromosome Location	chr3:134565134-134565135
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11706968	0.80[CHB][hapmap]
rs12489463	0.94[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13072762	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13073658	0.81[JPT][hapmap];0.93[MEX][hapmap]
rs13079457	0.87[CEU][hapmap];0.90[CHB][hapmap];0.93[CHD][hapmap];0.87[JPT][hapmap];0.93[MEX][hapmap];0.92[TSI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13091440	0.93[MEX][hapmap]
rs1399707	0.80[CHB][hapmap]
rs1515367	0.80[CHB][hapmap];0.81[JPT][hapmap]
rs2280156	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs34287501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34640730	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60531499	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6439529	0.86[CEU][hapmap];0.90[CHB][hapmap];0.82[EUR][1000 genomes]
rs6762261	0.87[CEU][hapmap];0.90[CHB][hapmap];0.86[CHD][hapmap];0.93[MEX][hapmap];0.92[TSI][hapmap];0.82[EUR][1000 genomes]
rs6772947	0.82[JPT][hapmap]
rs6782516	0.89[CHB][hapmap];0.93[JPT][hapmap]
rs6785725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6789763	0.80[CHB][hapmap];0.81[JPT][hapmap]
rs6793813	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6797353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7634094	0.90[CHB][hapmap]
rs885594	0.81[JPT][hapmap]

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	nsv877515	chr3:134460368-134591138	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1009634	chr3:134543259-134820208	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv536720	chr3:134543259-134820208	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1000277	chr3:134546080-134970837	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134549800-134569400	Weak transcription	Fetal Brain Male	brain
2	chr3:134558600-134565400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:134563600-134565600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr3:134564400-134566200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr3:134564400-134566800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr3:134564600-134566200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr3:134564600-134568200	Weak transcription	GM12878-XiMat	blood
8	chr3:134564600-134568600	Weak transcription	Psoas Muscle	Psoas
9	chr3:134564800-134566600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr3:134564800-134567200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr3:134565000-134566600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr3:134565000-134566800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr3:134565000-134567200	Enhancers	HUVEC	blood vessel

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