Variant report

Variant	rs58309417
Chromosome Location	chr12:33264611-33264612
allele	C/T
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:6)

rs_ID	r²[population]
rs28836615	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs55700616	0.83[AMR][1000 genomes]
rs56774457	0.83[AMR][1000 genomes]
rs56886349	0.83[AMR][1000 genomes]
rs57025428	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73311515	0.93[AFR][1000 genomes];0.83[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:11 , 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	chr12:33264000-33264800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr12:33264400-33265600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr12:33264600-33265200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr12:33264600-33265600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr12:33264600-33265600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr12:33264600-33265600	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr12:33264600-33265600	Enhancers	ES-UCSF4 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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