Variant report

Variant	rs12075529
Chromosome Location	chr1:95043186-95043187
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1041041	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1041042	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1146473	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1146474	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1146476	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1146477	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1146480	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1146481	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1146482	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1146484	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1146485	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1146487	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1146489	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1146491	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1146492	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1146494	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1146496	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1146498	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1146500	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1146501	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11485356	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12354005	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1245215	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1303132	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1303134	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1303135	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1303137	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1303138	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1303139	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1324217	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1578535	0.82[EUR][1000 genomes]
rs1612481	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1772904	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1772911	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1778205	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1778206	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1778207	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1778208	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1778223	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1778226	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2093843	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2762509	0.87[EUR][1000 genomes]
rs2794475	0.86[EUR][1000 genomes]
rs2794476	0.87[EUR][1000 genomes]
rs2794479	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2985287	0.86[EUR][1000 genomes]
rs6668501	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs68169338	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs927633	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs927634	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs927635	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs927636	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs968661	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs968662	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531881	chr1:94937444-95053785	Weak transcription Bivalent Enhancer Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv870696	chr1:95005220-95081587	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv871391	chr1:95005220-95083836	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1001587	chr1:95027691-95318680	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
5	nsv871279	chr1:95028981-95083836	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr1:95028600-95043400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:95036800-95045200	Weak transcription	Stomach Mucosa	stomach
3	chr1:95038600-95046200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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