Variant report

Variant	rs28969701
Chromosome Location	chr2:234574613-234574614
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs17862838	0.81[EUR][1000 genomes]
rs17862850	1.00[CEU][hapmap]
rs17862858	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17863755	1.00[CEU][hapmap]
rs17863757	0.87[EUR][1000 genomes]
rs17863763	0.87[EUR][1000 genomes]
rs17863777	1.00[CEU][hapmap]
rs17863783	1.00[CEU][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17863786	1.00[CEU][hapmap]
rs17864667	0.81[EUR][1000 genomes]
rs17864683	1.00[CEU][hapmap]
rs17864687	1.00[CEU][hapmap]
rs17864690	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17868304	0.87[EUR][1000 genomes]
rs17868309	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs17868315	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17868321	1.00[CEU][hapmap]
rs17868327	1.00[CEU][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28948068	1.00[CEU][hapmap]
rs28948382	0.81[EUR][1000 genomes]
rs28948385	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs4343459	0.87[EUR][1000 genomes]
rs45554333	1.00[ASN][1000 genomes]
rs45576241	0.87[EUR][1000 genomes]
rs4622711	0.87[EUR][1000 genomes]
rs7569014	1.00[CEU][hapmap];0.94[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	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv876013	chr2:234338227-234579915	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv428072	chr2:234393609-234624769	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	nsv876015	chr2:234518011-234579915	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
5	nsv1010936	chr2:234549011-234640221	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	esv17839	chr2:234569283-234575116	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234554600-234587800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr2:234559800-234592800	Weak transcription	Rectal Mucosa Donor 29	rectum

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