Variant report

Variant	rs1125592
Chromosome Location	chr12:33264805-33264806
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10772042	0.86[AMR][1000 genomes]
rs10772043	0.86[AMR][1000 genomes]
rs10844467	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10844470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10844482	0.85[AMR][1000 genomes]
rs11052432	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11052457	0.94[ASN][1000 genomes]
rs11052466	0.95[AMR][1000 genomes]
rs11052504	0.86[AMR][1000 genomes]
rs12426897	0.87[AMR][1000 genomes]
rs12426910	0.87[AMR][1000 genomes]
rs2166256	0.85[AMR][1000 genomes]
rs4931691	0.87[AMR][1000 genomes]
rs4931698	0.86[AMR][1000 genomes]
rs4931699	0.86[AMR][1000 genomes]
rs7305199	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs74075509	0.98[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530421	chr12:32825335-33465991	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv832367	chr12:33063644-33298967	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1053849	chr12:33132909-33279169	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1044931	chr12:33179957-33307362	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1046565	chr12:33252166-33294648	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:33261400-33265000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr12:33261400-33265000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr12:33261400-33265200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:33261600-33269200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr12:33264400-33265600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr12:33264600-33265200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr12:33264600-33265600	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr12:33264600-33265600	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr12:33264600-33265600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr12:33264600-33265600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:33264800-33265200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr12:33264800-33265800	Enhancers	ES-WA7 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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