Variant report

Variant	rs12057558
Chromosome Location	chr1:150214530-150214531
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:150213534..150216403-chr1:150227957..150229503,2	K562	blood:
2	chr1:150213431..150215001-chr1:150217397..150220393,2	K562	blood:
3	chr1:150212531..150214773-chr1:150230839..150232375,2	MCF-7	breast:
4	chr1:150207267..150210686-chr1:150211392..150215070,6	MCF-7	breast:
5	chr1:150211638..150214973-chr1:150221344..150224358,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143401	Chromatin interaction
ENSG00000222222	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10888577	0.95[ASN][1000 genomes]
rs11205341	0.84[CEU][hapmap]
rs11205343	0.84[EUR][1000 genomes]
rs11205350	0.90[ASN][1000 genomes]
rs11205353	0.94[ASN][1000 genomes]
rs11205354	0.81[CEU][hapmap]
rs12121923	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12122277	0.90[ASN][1000 genomes]
rs12133235	0.88[CEU][hapmap]
rs13374013	0.92[ASN][1000 genomes]
rs13374483	0.92[ASN][1000 genomes]
rs1625468	1.00[YRI][hapmap]
rs1694377	1.00[YRI][hapmap]
rs1924549	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs2038752	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs2038753	0.84[EUR][1000 genomes]
rs2274127	1.00[YRI][hapmap]
rs2298161	0.96[CEU][hapmap];0.89[EUR][1000 genomes]
rs2794681	1.00[YRI][hapmap]
rs34908293	0.94[ASN][1000 genomes]
rs35938158	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3754048	0.87[ASN][1000 genomes]
rs3850839	0.89[ASN][1000 genomes]
rs4408187	0.81[EUR][1000 genomes]
rs4581308	1.00[YRI][hapmap]
rs6587753	0.84[EUR][1000 genomes]
rs6655935	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs6665499	0.83[CEU][hapmap];0.82[EUR][1000 genomes]
rs6668679	0.92[ASN][1000 genomes]
rs6680040	0.84[CEU][hapmap]
rs6682434	0.82[EUR][1000 genomes]
rs6694215	0.83[EUR][1000 genomes]
rs696616	1.00[YRI][hapmap]
rs7511649	1.00[YRI][hapmap]
rs7522034	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs7548543	0.88[CEU][hapmap];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529719	chr1:150006344-150311095	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv916014	chr1:150187139-150537483	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
3	nsv872415	chr1:150210538-150248046	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1009508	chr1:150211112-150270830	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 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	chr1:150209200-150215400	Weak transcription	Right Atrium	heart
2	chr1:150210000-150214800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:150212400-150214800	Weak transcription	HepG2	liver

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