Variant report

Variant	rs4332578
Chromosome Location	chr12:42469016-42469017
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1074428	0.87[EUR][1000 genomes]
rs11611399	0.98[EUR][1000 genomes]
rs12812537	0.98[EUR][1000 genomes]
rs12812574	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12819341	0.94[EUR][1000 genomes]
rs12823639	0.94[EUR][1000 genomes]
rs12824122	0.93[EUR][1000 genomes]
rs12824857	1.00[AMR][1000 genomes]
rs1492364	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17224170	0.90[EUR][1000 genomes]
rs17224177	0.89[EUR][1000 genomes]
rs1732340	0.88[EUR][1000 genomes]
rs34064806	0.93[EUR][1000 genomes]
rs34152211	0.97[AMR][1000 genomes]
rs34619605	1.00[EUR][1000 genomes]
rs4264206	0.94[EUR][1000 genomes]
rs58891308	0.94[EUR][1000 genomes]
rs67420641	1.00[AMR][1000 genomes]
rs68185827	0.94[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	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1047830	chr12:42466192-42497603	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 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	chr12:42463800-42474600	Weak transcription	Left Ventricle	heart
2	chr12:42464600-42484000	Weak transcription	HSMM	muscle
3	chr12:42467400-42471200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr12:42468400-42490200	Weak transcription	Spleen	Spleen

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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