Variant report

Variant	rs12116751
Chromosome Location	chr1:193603084-193603085
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:193602279..193604026-chr1:193606853..193608371,2	K562	blood:
2	chr1:193596850..193598572-chr1:193600474..193603843,3	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12060042	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12079227	0.81[ASN][1000 genomes]
rs12131305	0.85[ASN][1000 genomes]
rs12134206	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12135345	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12138394	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12144307	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12726685	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12737948	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12747654	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12751433	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12756397	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1339319	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1887629	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34195829	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34597749	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35418296	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4657872	0.81[ASN][1000 genomes]
rs4657874	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60581324	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61831962	0.85[ASN][1000 genomes]
rs61831963	0.85[ASN][1000 genomes]
rs6428182	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6678275	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6689774	0.81[ASN][1000 genomes]
rs6695669	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6703565	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71642926	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7512670	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7524134	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7524872	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7541624	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7541925	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7550219	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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	nsv1008266	chr1:193550185-194481053	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr1:193586200-193603200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr1:193596800-193603800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr1:193599400-193603400	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr1:193600200-193603400	Weak transcription	Primary T cells from cord blood	blood
5	chr1:193602200-193603600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr1:193602400-193603400	Weak transcription	Colon Smooth Muscle	Colon

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