Variant report

Variant	rs4760620
Chromosome Location	chr12:48559642-48559643
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48477561..48478652-chr12:48558658..48559651,7	MCF-7	breast:
2	chr12:48559402..48559905-chr12:48574920..48575635,2	MCF-7	breast:
3	chr12:48549808..48555740-chr12:48556420..48560606,6	K562	blood:
4	chr12:48239241..48242168-chr12:48557559..48560161,2	K562	blood:

Variant related genes	Relation type
ENSG00000177981	Chromatin interaction
ENSG00000258051	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs1018973	0.92[ASW][hapmap];0.93[CEU][hapmap];0.83[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.96[MEX][hapmap];0.94[MKK][hapmap];0.96[TSI][hapmap];0.90[YRI][hapmap]
rs10492080	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1074174	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs10783230	0.86[ASN][1000 genomes]
rs10783231	1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10783232	0.86[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.81[TSI][hapmap];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10783233	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10783237	0.83[AMR][1000 genomes]
rs10783239	0.81[AMR][1000 genomes]
rs10875751	0.83[ASN][1000 genomes]
rs11168449	0.89[ASN][1000 genomes]
rs11168451	1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs11168455	0.86[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.81[TSI][hapmap];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11609399	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11612578	0.87[CEU][hapmap];0.95[JPT][hapmap]
rs11613485	0.92[ASW][hapmap];0.93[CEU][hapmap];0.83[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.91[MEX][hapmap];0.94[MKK][hapmap];0.96[TSI][hapmap];0.91[YRI][hapmap]
rs11613781	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12581972	0.83[EUR][1000 genomes]
rs12822085	1.00[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1476608	0.92[ASW][hapmap];0.93[CEU][hapmap];0.83[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.96[MEX][hapmap];0.94[MKK][hapmap];0.96[TSI][hapmap];0.91[YRI][hapmap];0.85[EUR][1000 genomes]
rs1489111	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs17122565	0.90[GIH][hapmap];0.95[JPT][hapmap]
rs17122612	0.92[ASW][hapmap];0.93[CEU][hapmap];0.83[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.96[MEX][hapmap];0.94[MKK][hapmap];0.96[TSI][hapmap];0.90[YRI][hapmap]
rs17122651	0.92[ASW][hapmap];0.93[CEU][hapmap];0.83[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.95[MEX][hapmap];0.94[MKK][hapmap];0.92[TSI][hapmap];0.91[YRI][hapmap];0.85[EUR][1000 genomes]
rs1859441	0.91[ASW][hapmap];0.86[CEU][hapmap];0.96[TSI][hapmap]
rs1968071	0.92[ASW][hapmap];0.93[CEU][hapmap];0.83[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.96[MEX][hapmap];0.94[MKK][hapmap];0.96[TSI][hapmap];0.90[YRI][hapmap];0.85[EUR][1000 genomes]
rs2013956	0.80[AMR][1000 genomes]
rs2054902	0.82[GIH][hapmap];0.81[JPT][hapmap]
rs2258342	0.86[CHB][hapmap];0.84[GIH][hapmap];0.81[JPT][hapmap];0.83[MEX][hapmap];0.83[MKK][hapmap]
rs2409001	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2634679	0.82[GIH][hapmap];0.81[JPT][hapmap]
rs2634699	0.86[CHB][hapmap];0.80[JPT][hapmap]
rs2732455	0.85[CHB][hapmap];0.84[GIH][hapmap];0.81[JPT][hapmap];0.83[MEX][hapmap]
rs2732477	0.85[CHB][hapmap];0.82[GIH][hapmap];0.81[JPT][hapmap]
rs2732487	0.85[CHB][hapmap];0.84[GIH][hapmap];0.81[JPT][hapmap];0.83[MEX][hapmap];0.83[MKK][hapmap]
rs3742074	0.92[ASW][hapmap];0.93[CEU][hapmap];0.83[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.96[MEX][hapmap];0.94[MKK][hapmap];0.96[TSI][hapmap];0.91[YRI][hapmap]
rs3825404	0.88[TSI][hapmap]
rs4075913	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4141065	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4589362	0.85[EUR][1000 genomes]
rs4760611	0.82[ASW][hapmap];0.86[CEU][hapmap];0.84[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.84[LWK][hapmap];0.91[MEX][hapmap];0.84[MKK][hapmap];0.92[TSI][hapmap]
rs4760623	0.81[AMR][1000 genomes]
rs4760683	0.87[CEU][hapmap];0.81[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4760685	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4760692	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4760698	0.86[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.81[TSI][hapmap];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs57054831	0.85[EUR][1000 genomes]
rs57655233	0.80[AFR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58046797	0.85[EUR][1000 genomes]
rs58331734	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60567660	0.85[EUR][1000 genomes]
rs6580647	0.88[TSI][hapmap]
rs6580649	0.88[TSI][hapmap]
rs6580653	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6580656	0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6580657	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6580660	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs726354	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72644845	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72644846	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72644847	0.88[EUR][1000 genomes]
rs7294641	0.84[AMR][1000 genomes]
rs7296913	0.92[ASW][hapmap];0.93[CEU][hapmap];0.83[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.94[MKK][hapmap];0.92[TSI][hapmap];0.91[YRI][hapmap];0.85[EUR][1000 genomes]
rs7305418	0.84[CEU][hapmap];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7305954	0.88[TSI][hapmap]
rs7312326	0.85[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.85[EUR][1000 genomes]
rs7313023	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7315258	0.84[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7485057	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7485824	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs757556	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7953726	0.81[AMR][1000 genomes]
rs7959755	0.93[CEU][hapmap];0.91[YRI][hapmap]
rs7963934	0.93[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs7967762	0.80[CEU][hapmap];0.92[TSI][hapmap]
rs7969749	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7971668	0.93[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap]
rs879242	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs901962	0.82[GIH][hapmap];0.81[JPT][hapmap]
rs901963	0.81[JPT][hapmap]
rs901964	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs9805048	0.88[TSI][hapmap]

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	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv508673	chr12:48489786-48567138	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv8971	chr12:48536526-48758501	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS 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	39 gene(s)	inside rSNPs	diseases
5	esv34439	chr12:48541757-48779562	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	esv2757502	chr12:48547128-48779562	Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
7	nsv976608	chr12:48558446-48563571	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4760620	ASB8	cis	parietal	SCAN
rs4760620	ZNF641	cis	Whole Blood	GTEx

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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