Variant report

Variant	rs434157
Chromosome Location	chr5:112191642-112191643
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112191204..112194360-chr5:112195263..112198616,8	MCF-7	breast:
2	chr5:112186187..112188435-chr5:112189268..112191839,2	K562	blood:
3	chr5:112180694..112183270-chr5:112188278..112192219,3	K562	blood:

Variant related genes	Relation type
ENSG00000153037	Chromatin interaction
ENSG00000272869	Chromatin interaction

Extended variants
information (count: 111 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs10463643	0.84[GIH][hapmap]
rs1069061	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.90[LWK][hapmap];0.86[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1093611	0.84[CEU][hapmap];0.87[TSI][hapmap];0.81[EUR][1000 genomes]
rs1093677	1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1441375	0.84[CEU][hapmap]
rs151976	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs151977	1.00[CEU][hapmap];0.91[GIH][hapmap];0.86[MEX][hapmap];0.98[TSI][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs151978	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs153545	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs153546	0.96[CEU][hapmap];0.88[TSI][hapmap];0.81[EUR][1000 genomes]
rs153548	0.84[CEU][hapmap]
rs153571	0.86[MEX][hapmap];0.81[MKK][hapmap];0.82[TSI][hapmap]
rs1661035	0.88[CEU][hapmap]
rs1734243	0.82[ASN][1000 genomes]
rs193527	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2431238	0.85[CHB][hapmap];0.90[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.80[TSI][hapmap]
rs2439591	0.84[CEU][hapmap];0.87[GIH][hapmap];0.86[MEX][hapmap];0.82[TSI][hapmap]
rs2464805	0.84[CEU][hapmap];0.82[CHD][hapmap];0.87[GIH][hapmap];0.85[MEX][hapmap];0.85[TSI][hapmap]
rs2545159	0.81[ASN][1000 genomes]
rs2545162	0.88[CEU][hapmap];0.87[GIH][hapmap]
rs2545163	0.88[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2545166	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2545167	1.00[CEU][hapmap];0.97[GIH][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2545169	0.88[CEU][hapmap];0.85[CHB][hapmap];0.85[CHD][hapmap];0.87[GIH][hapmap];0.86[JPT][hapmap];0.93[MEX][hapmap];0.82[TSI][hapmap];0.83[ASN][1000 genomes]
rs2545751	0.87[ASN][1000 genomes]
rs2546111	0.89[ASN][1000 genomes]
rs2909904	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs351767	0.92[EUR][1000 genomes]
rs351769	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs351770	0.84[CEU][hapmap];0.86[EUR][1000 genomes]
rs351771	0.84[GIH][hapmap];0.80[MEX][hapmap]
rs35726351	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs372492	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs380144	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs382260	1.00[CEU][hapmap];0.97[GIH][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs386830	0.81[AMR][1000 genomes]
rs392907	0.88[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs395266	0.85[ASN][1000 genomes]
rs397768	0.82[AMR][1000 genomes]
rs401908	0.81[ASN][1000 genomes]
rs41115	0.87[GIH][hapmap];0.80[MEX][hapmap]
rs411356	0.88[CEU][hapmap];0.87[GIH][hapmap];0.93[MEX][hapmap];0.85[TSI][hapmap]
rs419632	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs42427	0.87[GIH][hapmap];0.80[MEX][hapmap]
rs429427	0.88[CEU][hapmap];0.97[GIH][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap];0.86[EUR][1000 genomes]
rs430665	0.84[CEU][hapmap];1.00[GIH][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes]
rs431287	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs433429	0.81[AMR][1000 genomes]
rs434090	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs438252	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs439456	0.82[EUR][1000 genomes]
rs442507	0.80[AMR][1000 genomes]
rs446567	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs448162	0.84[CEU][hapmap];0.85[TSI][hapmap]
rs454968	0.81[EUR][1000 genomes]
rs455412	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs455469	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs456313	0.96[CEU][hapmap];0.90[EUR][1000 genomes]
rs458451	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs458967	0.85[ASN][1000 genomes]
rs459102	0.82[EUR][1000 genomes]
rs459552	0.85[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs460301	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs460832	0.83[CEU][hapmap];0.82[EUR][1000 genomes]
rs461424	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs461866	0.84[CEU][hapmap];0.80[AMR][1000 genomes]
rs463229	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs464002	0.88[CEU][hapmap]
rs464708	0.88[CEU][hapmap];0.87[GIH][hapmap];0.93[MEX][hapmap];0.85[TSI][hapmap]
rs465454	0.96[CEU][hapmap];0.91[GIH][hapmap];0.93[TSI][hapmap];0.85[EUR][1000 genomes]
rs465899	0.87[GIH][hapmap];0.80[MEX][hapmap]
rs468101	0.82[AMR][1000 genomes]
rs468783	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs469663	0.80[AMR][1000 genomes]
rs469727	0.84[CEU][hapmap];1.00[GIH][hapmap];0.80[MEX][hapmap];0.84[TSI][hapmap];0.82[AMR][1000 genomes]
rs469760	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs469827	0.84[CEU][hapmap]
rs481789	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs495794	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs497844	0.84[CEU][hapmap];0.94[GIH][hapmap];0.86[MEX][hapmap];0.87[TSI][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs501250	0.85[CHB][hapmap];0.81[CHD][hapmap];0.87[GIH][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs514763	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs519397	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs529076	0.85[ASN][1000 genomes]
rs544243	0.85[CHB][hapmap];0.85[CHD][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs563556	0.84[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs565453	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs565603	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs580237	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs698405	0.84[CEU][hapmap];1.00[GIH][hapmap];0.80[MEX][hapmap];0.84[TSI][hapmap];0.82[AMR][1000 genomes]
rs712662	0.84[CEU][hapmap];1.00[GIH][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes]
rs712664	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs712665	0.84[CEU][hapmap];1.00[GIH][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes]
rs712668	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs712671	0.83[EUR][1000 genomes]
rs7213	0.96[CEU][hapmap];0.90[EUR][1000 genomes]
rs818423	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs818424	0.80[EUR][1000 genomes]
rs818425	0.96[CEU][hapmap];0.90[EUR][1000 genomes]
rs818427	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs818429	0.82[EUR][1000 genomes]
rs864682	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs866006	0.84[GIH][hapmap]
rs9011	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032464	chr5:112076061-112192380	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
2	nsv537862	chr5:112076061-112192380	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
3	esv33290	chr5:112110808-112238295	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv1029271	chr5:112113308-112325943	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv1034239	chr5:112161239-112194693	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
6	nsv529536	chr5:112174106-112269758	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv599394	chr5:112185491-112446323	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs434157	REEP5	cis	uninvolved skin	skin_eQTL
rs434157	NCRNA00219	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112189400-112196200	Weak transcription	Spleen	Spleen
2	chr5:112191400-112196400	Weak transcription	HepG2	liver
3	chr5:112191600-112192400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr5:112191600-112192600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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