Variant report

Variant	rs6043570
Chromosome Location	chr20:15817106-15817107
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs12480694	0.87[CHB][hapmap];0.93[JPT][hapmap];0.93[ASN][1000 genomes]
rs12481296	0.88[CHB][hapmap];0.93[CHD][hapmap];0.87[JPT][hapmap];0.92[ASN][1000 genomes]
rs16996627	0.81[JPT][hapmap]
rs16996681	0.88[CHB][hapmap];0.93[CHD][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs175803	0.90[LWK][hapmap]
rs175810	0.90[LWK][hapmap]
rs175814	0.83[AFR][1000 genomes]
rs175815	0.83[AFR][1000 genomes]
rs175816	0.83[AFR][1000 genomes]
rs175817	0.83[AFR][1000 genomes]
rs175818	0.83[AFR][1000 genomes]
rs2041420	0.86[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2191516	0.83[AFR][1000 genomes]
rs2191517	0.83[AFR][1000 genomes]
rs2191518	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2191519	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2327968	0.88[CHB][hapmap];0.93[CHD][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs2876414	0.90[CHD][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs4555415	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.97[TSI][hapmap];0.85[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4814404	0.88[CHB][hapmap];0.93[CHD][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs4814405	0.92[ASN][1000 genomes]
rs4814406	0.90[ASN][1000 genomes]
rs6034299	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6034302	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6034303	0.83[AFR][1000 genomes]
rs6034304	0.83[AFR][1000 genomes]
rs6043561	0.89[CHB][hapmap];0.97[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6043569	0.94[CEU][hapmap];0.83[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6043571	0.83[AFR][1000 genomes]
rs6043572	0.83[AFR][1000 genomes]
rs6074955	0.83[AFR][1000 genomes]
rs6074956	0.83[AFR][1000 genomes]
rs6079982	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6079983	0.94[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6079985	0.83[AFR][1000 genomes]
rs6079986	0.83[AFR][1000 genomes]
rs6131728	0.81[JPT][hapmap]
rs6131729	0.94[JPT][hapmap]
rs6131731	0.87[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs6131733	0.81[JPT][hapmap]
rs6135567	0.84[ASN][1000 genomes]
rs6135568	0.89[ASN][1000 genomes]
rs6135570	0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs6135571	0.80[CHD][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs6135574	0.81[JPT][hapmap]
rs978767	0.86[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs978768	0.89[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869328	chr20:15325423-16213898	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv519883	chr20:15738086-15817106	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv833929	chr20:15765372-15977337	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv585645	chr20:15796051-15817106	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3447866	chr20:15799286-16115291	Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv585647	chr20:15802809-15817106	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
7	nsv585648	chr20:15807441-15829235	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv518011	chr20:15813644-15817106	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15814400-15817400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr20:15815800-15829600	Weak transcription	Fetal Brain Female	brain
3	chr20:15817000-15818200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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