Variant report

Variant	rs12306988
Chromosome Location	chr12:42655621-42655622
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:42631147..42633630-chr12:42655201..42657259,2	K562	blood:

Variant related genes	Relation type
ENSG00000015153	Chromatin interaction
ENSG00000134283	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11181316	1.00[AMR][1000 genomes]
rs11181323	1.00[AMR][1000 genomes]
rs11181352	1.00[AMR][1000 genomes]
rs11181358	1.00[AMR][1000 genomes]
rs11181365	1.00[AMR][1000 genomes]
rs12298117	1.00[AMR][1000 genomes]
rs12300748	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12300940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12306689	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12310121	1.00[AMR][1000 genomes]
rs12310800	1.00[AMR][1000 genomes]
rs12311173	1.00[AMR][1000 genomes]
rs12312552	1.00[AMR][1000 genomes]
rs12313439	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12313898	1.00[AMR][1000 genomes]
rs12322282	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12322316	1.00[AMR][1000 genomes]
rs12322344	1.00[AMR][1000 genomes]
rs12322394	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12385814	1.00[AMR][1000 genomes]
rs28599887	1.00[AMR][1000 genomes]
rs56736670	1.00[AMR][1000 genomes]
rs61023006	1.00[AMR][1000 genomes]
rs6582387	1.00[AMR][1000 genomes]
rs6582388	1.00[AMR][1000 genomes]
rs7306048	1.00[AMR][1000 genomes]
rs7959000	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7971397	1.00[AFR][1000 genomes];1.00[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	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv826351	chr12:42584218-42676281	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv826352	chr12:42593124-42675255	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	esv3397788	chr12:42636734-42665519	Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1048971	chr12:42651976-42801204	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 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	chr12:42654200-42660600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:42655600-42656000	Enhancers	Hela-S3	cervix

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