Variant report

Variant	rs12612929
Chromosome Location	chr2:11291910-11291911
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:11289895..11292620-chr2:11293697..11297329,4	MCF-7	breast:
2	chr2:11289560..11291933-chr2:11293311..11295693,2	K562	blood:

Variant related genes	Relation type
ENSG00000162976	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10929723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10929724	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11676692	0.88[ASN][1000 genomes]
rs12615623	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12617097	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12987119	0.86[ASN][1000 genomes]
rs12994920	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12995564	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13000987	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13022766	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13028675	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13030385	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13031027	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1828930	0.88[ASN][1000 genomes]
rs34315339	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34333866	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34344767	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34722769	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35536828	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs36026430	0.88[ASN][1000 genomes]
rs4668714	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4669695	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55691236	0.86[ASN][1000 genomes]
rs55975936	0.88[ASN][1000 genomes]
rs6744659	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6754718	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6754745	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71439048	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs727803	0.88[ASN][1000 genomes]
rs72785431	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7581322	0.84[ASN][1000 genomes]
rs7601782	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7605804	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7606827	0.87[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520789	chr2:11259067-11312224	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11273600-11294400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr2:11274000-11294600	Weak transcription	Right Atrium	heart
3	chr2:11284600-11294600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:11288000-11292000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:11288000-11294200	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr2:11288200-11294400	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr2:11288200-11294600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:11289600-11294600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:11289800-11294400	Weak transcription	Pancreas	Pancrea
10	chr2:11291200-11294200	Weak transcription	Hela-S3	cervix
11	chr2:11291400-11292200	Bivalent Enhancer	HepG2	liver
12	chr2:11291600-11294400	Weak transcription	Adipose Nuclei	Adipose
13	chr2:11291800-11294800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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