Variant report

Variant	rs9323530
Chromosome Location	chr14:70332304-70332305
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:18)

rs_ID	r²[population]
rs10162517	0.99[ASN][1000 genomes]
rs11158817	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12431570	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12435823	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1318485	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1952198	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1952199	0.80[ASN][1000 genomes]
rs1952200	0.81[ASN][1000 genomes]
rs4899317	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899318	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899319	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4902758	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4902759	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4902760	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7147790	0.81[ASN][1000 genomes]
rs7155074	0.81[ASN][1000 genomes]
rs749395	0.87[ASN][1000 genomes]
rs958056	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv832824	chr14:70320639-70511401	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70328400-70332600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:70329400-70340600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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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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