Variant report

Variant	rs6539191
Chromosome Location	chr12:105479562-105479563
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10861343	0.96[EUR][1000 genomes]
rs11112358	0.96[EUR][1000 genomes]
rs11112361	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11614837	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12310047	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1345094	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2374450	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6539185	0.95[EUR][1000 genomes]
rs7298218	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7954946	0.96[ASN][1000 genomes]
rs7962796	0.96[EUR][1000 genomes]
rs935247	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[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	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv832505	chr12:105315352-105497765	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv832506	chr12:105461274-105637561	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105478800-105479600	Enhancers	Fetal Brain Female	brain
2	chr12:105478800-105480200	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr12:105478800-105483200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:105478800-105483400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr12:105478800-105483600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr12:105478800-105483600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr12:105478800-105483800	Weak transcription	K562	blood
8	chr12:105478800-105486200	Weak transcription	Right Atrium	heart
9	chr12:105479200-105482800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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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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