Variant report

Variant	rs12993224
Chromosome Location	chr2:188977271-188977272
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10460382	0.82[ASN][1000 genomes]
rs12478374	0.82[ASN][1000 genomes]
rs12615631	0.82[ASN][1000 genomes]
rs12990029	0.87[ASN][1000 genomes]
rs13006933	0.87[ASN][1000 genomes]
rs13015608	0.82[ASN][1000 genomes]
rs13021054	0.82[ASN][1000 genomes]
rs13021984	0.82[ASN][1000 genomes]
rs13023212	0.82[ASN][1000 genomes]
rs13024023	0.82[ASN][1000 genomes]
rs13027989	0.82[ASN][1000 genomes]
rs1371527	0.82[ASN][1000 genomes]
rs1371528	0.82[ASN][1000 genomes]
rs1371529	0.82[ASN][1000 genomes]
rs1371530	0.82[ASN][1000 genomes]
rs1439898	0.82[ASN][1000 genomes]
rs1439900	0.82[ASN][1000 genomes]
rs1439901	0.82[ASN][1000 genomes]
rs1439909	0.82[ASN][1000 genomes]
rs16829839	0.82[ASN][1000 genomes]
rs2028374	0.82[ASN][1000 genomes]
rs2350563	0.82[ASN][1000 genomes]
rs34699014	0.87[ASN][1000 genomes]
rs34836837	0.82[ASN][1000 genomes]
rs35113537	0.82[ASN][1000 genomes]
rs35311707	0.82[ASN][1000 genomes]
rs4427987	0.82[ASN][1000 genomes]
rs4667212	0.82[ASN][1000 genomes]
rs55755436	0.82[ASN][1000 genomes]
rs62180847	0.82[ASN][1000 genomes]
rs6434262	0.82[ASN][1000 genomes]
rs6707652	0.82[ASN][1000 genomes]
rs67082838	0.87[ASN][1000 genomes]
rs6712945	0.82[ASN][1000 genomes]
rs6723998	0.82[ASN][1000 genomes]
rs67732490	0.87[ASN][1000 genomes]
rs67804711	0.82[ASN][1000 genomes]
rs68028976	0.82[ASN][1000 genomes]
rs72907984	0.87[ASN][1000 genomes]
rs72909886	0.87[ASN][1000 genomes]
rs7565935	0.87[ASN][1000 genomes]
rs920408	0.82[ASN][1000 genomes]
rs971268	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533353	chr2:188498301-189024655	Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv875602	chr2:188923773-189016215	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv875603	chr2:188923773-189025977	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv584044	chr2:188928433-189016215	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1002714	chr2:188934297-189025084	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv584045	chr2:188949715-189003106	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv875604	chr2:188957640-189043137	Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv584046	chr2:188967163-189006890	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	2 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	chr2:188944600-188988000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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