Variant report

Variant	rs12124282
Chromosome Location	chr1:193295328-193295329
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10732293	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs10801178	0.84[CEU][hapmap]
rs10801184	0.92[CEU][hapmap]
rs10801187	0.92[CEU][hapmap]
rs10801189	0.92[CEU][hapmap]
rs10801190	0.85[EUR][1000 genomes]
rs10801191	0.89[EUR][1000 genomes]
rs10801192	0.90[EUR][1000 genomes]
rs10921318	0.92[CEU][hapmap]
rs10921323	0.92[CEU][hapmap]
rs10921326	0.92[CEU][hapmap]
rs10921328	0.84[EUR][1000 genomes]
rs10921330	0.84[CEU][hapmap];0.83[EUR][1000 genomes]
rs10921334	0.89[EUR][1000 genomes]
rs10921343	0.92[ASN][1000 genomes]
rs10921344	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11577299	0.92[CEU][hapmap]
rs12034095	0.88[ASN][1000 genomes]
rs12037055	0.96[ASN][1000 genomes]
rs12040365	0.84[ASN][1000 genomes]
rs12041893	0.87[ASN][1000 genomes]
rs12047390	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs12064521	0.84[EUR][1000 genomes]
rs12078145	0.90[EUR][1000 genomes]
rs12090626	0.83[CEU][hapmap]
rs12125235	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12145057	0.92[CEU][hapmap]
rs12145954	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12410213	0.84[EUR][1000 genomes]
rs1339961	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1361404	0.96[CEU][hapmap];0.82[CHB][hapmap];0.87[JPT][hapmap];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1361405	0.82[CHB][hapmap];0.87[JPT][hapmap]
rs1408830	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs1416977	0.93[EUR][1000 genomes]
rs1536098	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs1536099	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs1539724	0.82[CEU][hapmap]
rs1578242	0.89[EUR][1000 genomes]
rs1578243	0.89[EUR][1000 genomes]
rs16835282	1.00[ASN][1000 genomes]
rs16835304	0.99[ASN][1000 genomes]
rs1749429	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1749430	0.87[ASN][1000 genomes]
rs1749431	0.99[ASN][1000 genomes]
rs1749432	1.00[ASN][1000 genomes]
rs1769999	0.99[ASN][1000 genomes]
rs1770000	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2181858	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2186016	0.92[CEU][hapmap]
rs2251699	0.84[EUR][1000 genomes]
rs2275507	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2370264	0.82[EUR][1000 genomes]
rs2486843	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3738244	0.84[CEU][hapmap]
rs4403612	0.86[AMR][1000 genomes]
rs4657744	0.92[CEU][hapmap]
rs4657854	1.00[ASN][1000 genomes]
rs4657855	0.99[ASN][1000 genomes]
rs474328	0.83[EUR][1000 genomes]
rs497362	0.99[ASN][1000 genomes]
rs515964	1.00[ASN][1000 genomes]
rs531327	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59264807	1.00[ASN][1000 genomes]
rs61082463	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61648161	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6428156	0.92[CEU][hapmap]
rs6428157	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs6428163	0.87[ASN][1000 genomes]
rs6428166	0.99[ASN][1000 genomes]
rs6662104	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6675827	0.89[EUR][1000 genomes]
rs6686065	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6689006	0.84[EUR][1000 genomes]
rs6693734	0.87[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs6697079	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs6702762	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7367986	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7514072	0.92[CEU][hapmap]
rs7515024	0.87[CEU][hapmap]
rs7528595	1.00[ASN][1000 genomes]
rs7534504	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7543029	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7544027	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7550521	0.99[ASN][1000 genomes]
rs7555466	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9887974	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872831	chr1:193152317-193322087	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1001174	chr1:193186758-193363372	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv997891	chr1:193271839-193566441	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193294800-193295800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:193294800-193296200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:193295200-193295800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:193295200-193297600	Weak transcription	HSMM	muscle

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