Variant report

Variant	rs1675777
Chromosome Location	chr12:44264215-44264216
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1057486	0.85[EUR][1000 genomes]
rs10748373	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10785462	0.83[AFR][1000 genomes]
rs10785463	0.81[AFR][1000 genomes]
rs11182293	0.80[EUR][1000 genomes]
rs12298970	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12311962	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12314126	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1358705	0.86[AFR][1000 genomes]
rs1406787	0.81[EUR][1000 genomes]
rs1614042	0.86[AFR][1000 genomes]
rs1621279	0.85[EUR][1000 genomes]
rs1623829	0.83[EUR][1000 genomes]
rs1675756	0.86[AFR][1000 genomes]
rs1675765	0.85[EUR][1000 genomes]
rs1675767	0.83[EUR][1000 genomes]
rs1675769	0.85[EUR][1000 genomes]
rs1675771	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1675774	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1675776	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1675778	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1675781	0.85[AFR][1000 genomes]
rs1675782	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1675783	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1675784	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1675788	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1675789	0.86[AFR][1000 genomes]
rs1675790	0.86[AFR][1000 genomes]
rs1731423	0.80[EUR][1000 genomes]
rs1731430	0.85[AFR][1000 genomes]
rs1731434	0.81[EUR][1000 genomes]
rs1731438	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs1731439	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1731440	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1731442	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1731448	0.87[EUR][1000 genomes]
rs1731452	0.85[EUR][1000 genomes]
rs1731454	0.85[EUR][1000 genomes]
rs1731456	0.86[AFR][1000 genomes]
rs1731457	0.85[AFR][1000 genomes]
rs1731458	0.86[AFR][1000 genomes]
rs1731459	0.86[AFR][1000 genomes]
rs2407783	0.83[AFR][1000 genomes]
rs2447114	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2447115	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2447116	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2951436	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4238089	0.83[AFR][1000 genomes]
rs4238091	0.83[AFR][1000 genomes]
rs4572198	0.83[AFR][1000 genomes]
rs4572199	0.81[AFR][1000 genomes]
rs4609659	0.83[AFR][1000 genomes]
rs4768049	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4768538	0.83[AFR][1000 genomes]
rs5019975	0.82[AFR][1000 genomes]
rs7305609	0.83[EUR][1000 genomes]
rs73096934	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	nsv933142	chr12:44130156-44278300	Active TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	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

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44240400-44293000	Weak transcription	Aorta	Aorta
2	chr12:44256400-44285600	Weak transcription	HSMMtube	muscle
3	chr12:44258200-44273600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:44263400-44265200	Weak transcription	NHEK	skin
5	chr12:44263400-44273200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:44263600-44277000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:44263800-44277600	Weak transcription	Left Ventricle	heart

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