Variant report

Variant	rs2878494
Chromosome Location	chr16:71864108-71864109
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	chr16:71841592..71843388-chr16:71864019..71865755,2	MCF-7	breast:
2	chr16:71841850..71845903-chr16:71861394..71864478,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166747	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10500567	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10852505	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10852507	0.84[EUR][1000 genomes]
rs11075906	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11075909	0.92[YRI][hapmap]
rs11075910	1.00[CHB][hapmap]
rs11639902	1.00[CHB][hapmap]
rs11640135	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11642529	1.00[CHB][hapmap]
rs11644740	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs11648557	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs11861296	1.00[JPT][hapmap]
rs11865456	0.95[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs12149307	0.95[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes]
rs12149325	0.95[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes]
rs12149460	1.00[JPT][hapmap]
rs12149917	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12445564	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.91[EUR][1000 genomes]
rs12445641	0.95[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes]
rs12448022	1.00[CHB][hapmap]
rs12448086	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12708919	1.00[CHB][hapmap]
rs12921279	0.86[EUR][1000 genomes]
rs12921459	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12927691	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12934512	0.95[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes]
rs13330178	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17357420	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17358402	0.95[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes]
rs2278030	1.00[CHB][hapmap]
rs2288030	1.00[CHB][hapmap]
rs28667298	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3088285	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34029919	0.87[EUR][1000 genomes]
rs34664834	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35028754	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35209006	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35404791	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs35535529	0.80[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs35595148	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3751820	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.96[YRI][hapmap];0.80[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs4528577	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.86[EUR][1000 genomes]
rs4788568	1.00[CHB][hapmap]
rs4788579	1.00[CHB][hapmap]
rs71384781	0.87[EUR][1000 genomes]
rs71384782	0.83[EUR][1000 genomes]
rs71386939	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs71386940	0.87[EUR][1000 genomes]
rs7185027	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7187418	0.92[YRI][hapmap]
rs7188591	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7191848	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7195988	0.95[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.87[EUR][1000 genomes]
rs7197486	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7198834	1.00[CEU][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7200447	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7202840	1.00[CHB][hapmap]
rs73586164	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8046044	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8049163	1.00[CHB][hapmap]
rs8049508	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs8050058	0.95[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes]
rs8051878	1.00[CHB][hapmap]
rs8052358	1.00[CEU][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8053906	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8054602	0.92[YRI][hapmap]
rs8063657	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9932707	0.82[JPT][hapmap]
rs9939404	0.92[YRI][hapmap]
rs9939911	0.82[JPT][hapmap]
rs9940234	0.95[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]

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	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71851200-71866400	Weak transcription	HSMMtube	muscle
2	chr16:71852200-71866000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr16:71863800-71864600	Enhancers	GM12878-XiMat	blood

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