Variant report

Variant	rs9971912
Chromosome Location	chr12:47769839-47769840
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10785676	0.82[ASN][1000 genomes]
rs10881097	0.82[ASN][1000 genomes]
rs10881099	0.81[ASN][1000 genomes]
rs11183919	0.86[ASN][1000 genomes]
rs4768152	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58058166	0.83[ASN][1000 genomes]
rs6582705	0.82[ASN][1000 genomes]
rs7297927	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7956037	0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs929225	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[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	nsv558785	chr12:47740440-48044011	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47756200-47771000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:47762800-47771800	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr12:47763200-47770800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr12:47763200-47772200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr12:47763200-47772200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr12:47766200-47771200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr12:47766600-47772200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr12:47768200-47770800	Weak transcription	HUVEC	blood vessel

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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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