Variant report

Variant	rs12713083
Chromosome Location	chr2:50254129-50254130
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1363052	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1369295	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1369297	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1421577	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1421598	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1469002	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1469003	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1477249	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1541642	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1592728	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1865490	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2193865	0.84[EUR][1000 genomes]
rs2351149	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2859977	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4583505	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4971632	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6545144	0.82[EUR][1000 genomes]
rs6706484	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6706613	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6712956	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6714990	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7562931	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7596020	0.84[AMR][1000 genomes]
rs930295	0.84[EUR][1000 genomes]
rs980794	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388948	chr2:50092667-50602681	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3399511	chr2:50092687-50602651	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv934303	chr2:50145598-50412189	Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv581837	chr2:50230334-50268616	Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1011144	chr2:50231111-50270096	Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv915588	chr2:50235306-50268306	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv431002	chr2:50243349-50259749	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1004550	chr2:50250335-50274067	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv581838	chr2:50250758-50274774	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 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	chr2:50252200-50254800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr2:50253800-50256200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links