Variant report

Variant	rs12311784
Chromosome Location	chr12:10800218-10800219
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11053888	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11053890	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11053891	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11836109	0.80[AMR][1000 genomes]
rs11836264	0.80[AMR][1000 genomes]
rs12297620	0.82[AFR][1000 genomes]
rs12299672	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12302213	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12304304	0.82[AFR][1000 genomes]
rs12304656	1.00[EUR][1000 genomes]
rs12315090	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12315191	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12319401	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs12321785	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12322404	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12322680	0.82[AFR][1000 genomes]
rs2198964	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs4763212	1.00[EUR][1000 genomes]
rs55785135	0.80[AMR][1000 genomes]
rs57035205	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs58677311	0.80[AMR][1000 genomes]
rs59613394	0.80[AMR][1000 genomes]
rs60461379	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs61473048	0.80[AMR][1000 genomes]
rs73256092	1.00[EUR][1000 genomes]
rs74060455	0.80[AMR][1000 genomes]
rs74060471	1.00[EUR][1000 genomes]
rs74060473	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7968001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv832329	chr12:10677094-10845946	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv607	chr12:10776867-10821535	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10797400-10800400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
2	chr12:10799400-10800600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
3	chr12:10799800-10800800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:10799800-10813800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:10800000-10809600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:10800200-10800600	ZNF genes & repeats	HUVEC	blood vessel

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