Variant report

Variant	rs12386229
Chromosome Location	chr2:67755226-67755227
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:67749767..67751384-chr2:67754189..67756805,2	K562	blood:
2	chr2:67753670..67756396-chr2:67758038..67759731,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11126130	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11126131	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11679857	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11682942	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11683245	0.80[ASN][1000 genomes]
rs11685481	0.84[EUR][1000 genomes]
rs11689141	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11690525	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11691819	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11694705	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12463558	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12476485	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12476486	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12476516	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12478439	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1568471	0.96[EUR][1000 genomes]
rs17033716	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2090799	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28391396	0.89[EUR][1000 genomes]
rs2861634	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28840464	0.93[EUR][1000 genomes]
rs57485255	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58272443	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60984719	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61690466	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62155320	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62155325	0.86[ASN][1000 genomes]
rs62157933	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62157935	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546313	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6739215	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6743509	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs726085	0.89[EUR][1000 genomes]
rs7591684	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7591831	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7606107	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7608814	0.89[AMR][1000 genomes];0.98[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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67750400-67755600	Weak transcription	Pancreas	Pancrea
2	chr2:67751800-67755600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:67752000-67755400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:67754000-67757000	Weak transcription	Fetal Lung	lung

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