Variant report

Variant	rs12133226
Chromosome Location	chr1:216764636-216764637
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:216764221..216767085-chr1:216773070..216774787,2	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10495031	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10863253	0.82[JPT][hapmap]
rs10863254	1.00[JPT][hapmap];0.91[AFR][1000 genomes]
rs10863255	1.00[AFR][1000 genomes]
rs10863257	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11117619	1.00[AFR][1000 genomes]
rs11117622	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs11117623	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs11117625	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11117632	1.00[AFR][1000 genomes]
rs11117633	1.00[AFR][1000 genomes]
rs11117637	1.00[AFR][1000 genomes]
rs11117638	0.91[AFR][1000 genomes]
rs11117639	0.91[AFR][1000 genomes]
rs11572727	0.82[AFR][1000 genomes]
rs11577409	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11581434	1.00[AFR][1000 genomes]
rs11585397	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11587086	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11590373	0.82[AFR][1000 genomes]
rs12122051	1.00[AFR][1000 genomes]
rs12123789	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12128352	0.91[AFR][1000 genomes]
rs12129039	1.00[AFR][1000 genomes]
rs12131827	0.91[AFR][1000 genomes]
rs12132004	0.91[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs12136640	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12140540	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12145447	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12354357	0.92[ASN][1000 genomes]
rs17669502	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17671012	1.00[AFR][1000 genomes]
rs1984137	0.92[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2030059	0.88[JPT][hapmap]
rs2047430	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs2173371	1.00[AFR][1000 genomes]
rs35079003	1.00[AFR][1000 genomes]
rs72737319	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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	nsv549199	chr1:216384908-216814702	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv1003815	chr1:216504235-216836498	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv535289	chr1:216504235-216836498	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv873178	chr1:216714314-216813244	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv4565	chr1:216720070-216765053	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216721800-216774000	Weak transcription	Placenta	Placenta
2	chr1:216755200-216767800	Weak transcription	Fetal Heart	heart
3	chr1:216757400-216773600	Weak transcription	Fetal Intestine Small	intestine
4	chr1:216764600-216764800	Enhancers	Brain Substantia Nigra	brain
5	chr1:216764600-216764800	ZNF genes & repeats	Left Ventricle	heart

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