Variant report

Variant	rs1568471
Chromosome Location	chr2:67744538-67744539
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	chr2:67742976..67744739-chr2:67803232..67804935,2	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11126130	0.88[ASW][hapmap];1.00[CEU][hapmap];0.91[GIH][hapmap];0.86[LWK][hapmap];0.84[MKK][hapmap];0.97[TSI][hapmap];0.80[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11126131	0.97[EUR][1000 genomes]
rs11679857	0.83[EUR][1000 genomes]
rs11682942	0.94[EUR][1000 genomes]
rs11685481	0.83[EUR][1000 genomes]
rs11689141	0.82[EUR][1000 genomes]
rs11690525	0.96[EUR][1000 genomes]
rs11691819	0.97[EUR][1000 genomes]
rs11694705	1.00[CEU][hapmap];0.80[YRI][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12386229	0.96[EUR][1000 genomes]
rs12463558	0.96[EUR][1000 genomes]
rs12476485	0.97[EUR][1000 genomes]
rs12476486	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs12476516	0.97[EUR][1000 genomes]
rs12478439	0.97[EUR][1000 genomes]
rs1402441	1.00[CHB][hapmap]
rs17033716	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2090799	0.83[EUR][1000 genomes]
rs2683680	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2683681	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2683683	1.00[CHB][hapmap]
rs2683684	1.00[CHB][hapmap]
rs28391396	0.88[EUR][1000 genomes]
rs2860517	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2861634	0.83[EUR][1000 genomes]
rs28840464	0.91[EUR][1000 genomes]
rs2969308	0.98[ASN][1000 genomes]
rs57485255	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58272443	0.83[EUR][1000 genomes]
rs60984719	0.83[EUR][1000 genomes]
rs61690466	0.97[EUR][1000 genomes]
rs62155320	0.83[EUR][1000 genomes]
rs62157933	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62157935	0.97[EUR][1000 genomes]
rs6546313	0.82[EUR][1000 genomes]
rs6739215	1.00[CEU][hapmap];0.91[GIH][hapmap];0.93[TSI][hapmap];0.97[EUR][1000 genomes]
rs6743509	0.82[EUR][1000 genomes]
rs726085	0.88[EUR][1000 genomes]
rs7591684	0.97[EUR][1000 genomes]
rs7591831	0.97[EUR][1000 genomes]
rs7606107	0.97[EUR][1000 genomes]
rs7608814	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534389	chr2:67388428-68225338	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	esv3335541	chr2:67577544-67773907	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1568471	PPP3R1	cis	parietal	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67741400-67745200	Enhancers	NHDF-Ad	bronchial
2	chr2:67741400-67745200	Enhancers	NHLF	lung
3	chr2:67742000-67747000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:67742800-67744600	Weak transcription	Colon Smooth Muscle	Colon
5	chr2:67742800-67745400	Enhancers	Fetal Lung	lung
6	chr2:67743600-67745200	Enhancers	Fetal Stomach	stomach
7	chr2:67743800-67744600	Enhancers	Fetal Muscle Leg	muscle
8	chr2:67743800-67745000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:67743800-67745000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:67743800-67745200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:67743800-67745200	Enhancers	Osteobl	bone
12	chr2:67744200-67745000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:67744200-67745000	Enhancers	Fetal Kidney	kidney
14	chr2:67744400-67744600	Enhancers	HSMMtube	muscle
15	chr2:67744400-67744800	Enhancers	Duodenum Mucosa	Duodenum
16	chr2:67744400-67745000	Enhancers	Stomach Smooth Muscle	stomach

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