Variant report

Variant	rs12568237
Chromosome Location	chr1:219932850-219932851
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF263	chr1:219932580-219932944	HEK293-T-REx	kidney:	n/a	chr1:219932721-219932742 chr1:219932750-219932771

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:219930436..219934638-chr1:219937139..219939640,3	K562	blood:

Variant related genes	Relation type
RNA5SP76	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12022944	0.88[EUR][1000 genomes]
rs12027738	0.87[EUR][1000 genomes]
rs12028121	0.88[EUR][1000 genomes]
rs12028892	0.88[EUR][1000 genomes]
rs12035801	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12044048	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs12048116	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs12048880	0.87[EUR][1000 genomes]
rs12567261	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12568466	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1418748	0.87[EUR][1000 genomes]
rs1418749	0.87[EUR][1000 genomes]
rs1418750	0.87[EUR][1000 genomes]
rs17006547	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17006614	0.88[EUR][1000 genomes]
rs1890295	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2378320	0.87[EUR][1000 genomes]
rs2378321	0.87[EUR][1000 genomes]
rs2378322	0.87[EUR][1000 genomes]
rs2378323	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs36130413	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs36172598	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs4264002	0.87[EUR][1000 genomes]
rs4440861	0.87[EUR][1000 genomes]
rs61677257	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6662809	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6678855	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs6691756	0.86[EUR][1000 genomes]
rs6696853	0.87[EUR][1000 genomes]
rs6697094	0.87[EUR][1000 genomes]
rs6697171	0.87[EUR][1000 genomes]
rs6698185	0.87[EUR][1000 genomes]
rs7418846	1.00[AFR][1000 genomes]
rs7523475	0.88[EUR][1000 genomes]
rs7526289	1.00[AFR][1000 genomes];0.85[EUR][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	nsv1006393	chr1:219925261-220126458	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 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	chr1:219930200-219933000	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr1:219930400-219933200	Enhancers	Fetal Lung	lung
3	chr1:219931800-219934200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:219932800-219933000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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