Variant report

Variant	rs4469953
Chromosome Location	chr12:44307349-44307350
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 112 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs1057486	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10736017	1.00[ASN][1000 genomes]
rs10748373	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs10748378	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10785462	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10785463	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10785466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10785468	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10785469	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10785481	0.81[EUR][1000 genomes]
rs10880573	0.87[ASN][1000 genomes]
rs10880574	1.00[JPT][hapmap]
rs10880578	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10880585	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10880587	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11182293	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11182302	1.00[JPT][hapmap]
rs11182324	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182325	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12231978	1.00[JPT][hapmap]
rs12298970	0.83[EUR][1000 genomes]
rs12311962	0.83[EUR][1000 genomes]
rs12314126	0.80[EUR][1000 genomes]
rs1358705	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1406787	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1609548	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1609549	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1610291	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1614042	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1621279	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1622590	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1623829	0.86[EUR][1000 genomes]
rs1675755	0.84[EUR][1000 genomes]
rs1675756	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1675758	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1675764	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1675765	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1675767	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1675769	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1675771	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs1675774	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1675776	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1675778	0.85[EUR][1000 genomes]
rs1675781	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1675782	0.84[EUR][1000 genomes]
rs1675783	0.85[EUR][1000 genomes]
rs1675784	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs1675785	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1675787	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1675788	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs1675789	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1675790	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1731423	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1731427	0.92[ASN][1000 genomes]
rs1731429	0.92[ASN][1000 genomes]
rs1731430	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1731431	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1731432	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1731434	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1731438	0.87[EUR][1000 genomes]
rs1731439	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1731440	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs1731442	0.85[EUR][1000 genomes]
rs1731447	0.85[ASN][1000 genomes]
rs1731448	0.84[EUR][1000 genomes]
rs1731452	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1731454	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1731456	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1731457	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1731458	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1731459	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1881926	0.81[EUR][1000 genomes]
rs1881927	0.83[EUR][1000 genomes]
rs2219629	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2407783	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2447113	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2447114	0.85[EUR][1000 genomes]
rs2447115	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2447116	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2614394	0.94[ASN][1000 genomes]
rs2951435	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2951436	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs4238089	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4238090	1.00[ASN][1000 genomes]
rs4238091	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4354753	0.97[ASN][1000 genomes]
rs4363674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4537822	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4572198	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4572199	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4609659	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768049	0.84[EUR][1000 genomes]
rs4768052	0.92[ASN][1000 genomes]
rs4768053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4768055	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4768536	0.85[AFR][1000 genomes]
rs4768538	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768539	0.82[AFR][1000 genomes]
rs4768543	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5019975	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6582490	0.81[EUR][1000 genomes]
rs7295151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7305609	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73096934	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7311847	0.83[EUR][1000 genomes]
rs7955615	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7965240	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7965330	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7972025	0.84[ASN][1000 genomes]
rs7974214	0.83[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	nsv899048	chr12:44209423-44307888	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
2	nsv526719	chr12:44298417-44315762	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44298800-44307800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:44307000-44315600	Weak transcription	NHDF-Ad	bronchial

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