Variant report

Variant	rs12543196
Chromosome Location	chr8:62066096-62066097
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13255501	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13257488	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2349923	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4551348	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4737577	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4737578	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4737579	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4738871	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6471930	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6471935	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6471937	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6985539	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948922	chr8:61818964-62475097	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv465698	chr8:62036793-62179465	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv611426	chr8:62036793-62179465	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1026243	chr8:62039073-62101123	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62063000-62066200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:62063000-62066200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr8:62063000-62084600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:62063400-62067400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:62063400-62067600	Weak transcription	GM12878-XiMat	blood
6	chr8:62063600-62067200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:62063800-62066200	Weak transcription	Fetal Brain Female	brain
8	chr8:62065400-62066800	Enhancers	H1 Cell Line	embryonic stem cell
9	chr8:62065400-62067800	Enhancers	Fetal Brain Male	brain
10	chr8:62065600-62068200	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr8:62065800-62067400	Enhancers	Brain Germinal Matrix	brain
12	chr8:62065800-62067800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr8:62065800-62068200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr8:62065800-62068400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr8:62065800-62068400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr8:62066000-62067800	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr8:62066000-62068200	Enhancers	iPS-18 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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