Variant report

Variant	rs11680607
Chromosome Location	chr2:188961145-188961146
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:188959333..188961890-chr2:188963831..188966080,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11674812	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11680615	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11685836	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1371525	0.85[EUR][1000 genomes]
rs1439877	0.87[EUR][1000 genomes]
rs1439878	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1439879	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17264870	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1821997	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1837456	0.86[EUR][1000 genomes]
rs2350560	0.87[EUR][1000 genomes]
rs2350561	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34938766	0.97[ASN][1000 genomes]
rs62180771	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62180775	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62180807	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62180809	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62180813	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62180836	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6724481	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6734493	0.82[EUR][1000 genomes]
rs72911727	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7563498	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7595927	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7596880	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs893747	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

Chromatin state (count:3 , 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
2	chr2:188960200-188968000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:188960600-188963000	Weak transcription	Fetal Lung	lung

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