Variant report

Variant	rs1022320
Chromosome Location	chr12:124264319-124264320
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFF	chr12:124264147-124264458	HepG2	liver:	n/a	chr12:124264290-124264308
2	MAFK	chr12:124264193-124264425	IMR90	lung:	n/a	chr12:124264291-124264306
3	MAFK	chr12:124264141-124264410	K562	blood:	n/a	chr12:124264291-124264306
4	MAFF	chr12:124264132-124264411	K562	blood:	n/a	chr12:124264290-124264308
5	MAFK	chr12:124264116-124264462	HepG2	liver:	n/a	chr12:124264291-124264306
6	MAFK	chr12:124264131-124264456	HepG2	liver:	n/a	chr12:124264291-124264306

Variant related genes	Relation type
DNAH10	TF binding region

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1022321	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1050448	1.00[CHB][hapmap]
rs10744163	1.00[CHB][hapmap]
rs10846555	0.81[EUR][1000 genomes]
rs10846556	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10846559	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10846569	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11057353	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs11057355	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11057358	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1114628	0.95[CEU][hapmap];1.00[CHB][hapmap]
rs11832329	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11835233	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11835252	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12302651	1.00[CEU][hapmap]
rs12809853	1.00[CHB][hapmap]
rs15587	1.00[CHB][hapmap]
rs1568027	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1568029	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1568030	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs2340692	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2674504	1.00[ASN][1000 genomes]
rs2674506	1.00[ASN][1000 genomes]
rs3204541	1.00[CHB][hapmap]
rs34224739	1.00[ASN][1000 genomes]
rs34506612	1.00[ASN][1000 genomes]
rs34535130	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34705855	1.00[ASN][1000 genomes]
rs4930728	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4930732	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs55920625	1.00[ASN][1000 genomes]
rs56399357	1.00[ASN][1000 genomes]
rs61953572	1.00[ASN][1000 genomes]
rs67861770	1.00[ASN][1000 genomes]
rs7136121	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7137299	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7137310	1.00[ASN][1000 genomes]
rs71458816	1.00[ASN][1000 genomes]
rs7303002	1.00[ASN][1000 genomes]
rs7962448	0.83[EUR][1000 genomes]
rs7973103	1.00[CHB][hapmap];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124255600-124270800	Weak transcription	Brain Anterior Caudate	brain

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