Variant report

Variant	rs1614219
Chromosome Location	chr12:56463140-56463141
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	chr12:56460906..56463443-chr12:56465823..56468206,2	K562	blood:

Extended variants
information (count: 70 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs1045435	1.00[ASN][1000 genomes]
rs10783777	1.00[ASN][1000 genomes]
rs10783778	1.00[ASN][1000 genomes]
rs10876867	1.00[ASN][1000 genomes]
rs1091527	1.00[ASN][1000 genomes]
rs11550558	1.00[ASN][1000 genomes]
rs11835310	1.00[ASN][1000 genomes]
rs11837075	0.87[ASN][1000 genomes]
rs12099979	0.98[EUR][1000 genomes]
rs12810011	0.98[EUR][1000 genomes]
rs12815302	0.93[EUR][1000 genomes]
rs12815387	0.91[EUR][1000 genomes]
rs12815488	0.98[EUR][1000 genomes]
rs12817471	0.83[EUR][1000 genomes]
rs12818756	0.98[EUR][1000 genomes]
rs12831468	0.98[EUR][1000 genomes]
rs1626158	1.00[ASN][1000 genomes]
rs1689511	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1689517	1.00[ASN][1000 genomes]
rs1689518	1.00[ASN][1000 genomes]
rs1701706	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17118262	0.98[EUR][1000 genomes]
rs2131569	0.91[EUR][1000 genomes]
rs2271193	1.00[ASN][1000 genomes]
rs2271195	1.00[ASN][1000 genomes]
rs2277340	1.00[ASN][1000 genomes]
rs2456972	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2640566	1.00[ASN][1000 genomes]
rs2658479	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2661728	1.00[ASN][1000 genomes]
rs2661729	1.00[ASN][1000 genomes]
rs2934152	1.00[ASN][1000 genomes]
rs34228181	0.98[EUR][1000 genomes]
rs34303864	0.98[EUR][1000 genomes]
rs34406511	0.98[EUR][1000 genomes]
rs34485293	0.89[EUR][1000 genomes]
rs34507011	0.89[EUR][1000 genomes]
rs34602183	0.94[EUR][1000 genomes]
rs34650555	0.98[EUR][1000 genomes]
rs34921584	0.98[EUR][1000 genomes]
rs35485002	0.94[EUR][1000 genomes]
rs35662491	0.84[EUR][1000 genomes]
rs35666826	0.87[EUR][1000 genomes]
rs35961650	0.96[EUR][1000 genomes]
rs4759022	0.98[EUR][1000 genomes]
rs4759239	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71459334	0.98[EUR][1000 genomes]
rs71459336	0.96[EUR][1000 genomes]
rs71459339	0.98[EUR][1000 genomes]
rs71459342	0.87[EUR][1000 genomes]
rs7298818	0.92[EUR][1000 genomes]
rs7300292	1.00[ASN][1000 genomes]
rs7300772	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7304690	1.00[ASN][1000 genomes]
rs73338377	1.00[ASN][1000 genomes]
rs73338385	1.00[ASN][1000 genomes]
rs73338396	0.87[ASN][1000 genomes]
rs772919	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs772922	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs772923	0.91[EUR][1000 genomes]
rs773115	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7963590	0.87[EUR][1000 genomes]
rs7970035	1.00[ASN][1000 genomes]
rs7977537	0.93[EUR][1000 genomes]
rs9738143	1.00[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	nsv1051961	chr12:56262220-56629427	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	284 gene(s)	inside rSNPs	diseases
2	nsv832424	chr12:56275226-56466917	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
3	nsv1043988	chr12:56348185-56534900	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
4	nsv832427	chr12:56392545-56512774	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
5	esv2585414	chr12:56461401-56463400	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1614219	LOC644166///LOC644191///LOC728937///RPS26	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56437000-56472800	Weak transcription	Right Atrium	heart
2	chr12:56454400-56467800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:56456000-56465800	Weak transcription	Placenta Amnion	Placenta Amnion

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