Variant report

Variant	rs2427800
Chromosome Location	chr1:158652252-158652253
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:158651114..158653909-chr1:158727740..158729801,2	K562	blood:
2	chr1:158651585..158653705-chr1:158746762..158749250,2	K562	blood:
3	chr1:158651218..158653402-chr1:158664730..158667068,2	K562	blood:
4	chr1:158649920..158652819-chr1:158694905..158696838,2	K562	blood:

Variant related genes	Relation type
ENSG00000188340	Chromatin interaction
ENSG00000231237	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10908689	1.00[AMR][1000 genomes]
rs10908690	1.00[AMR][1000 genomes]
rs13375717	1.00[AMR][1000 genomes]
rs167819	1.00[AMR][1000 genomes]
rs2427801	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2427802	1.00[AMR][1000 genomes]
rs2435284	1.00[AMR][1000 genomes]
rs2435285	1.00[AMR][1000 genomes]
rs2435286	1.00[AMR][1000 genomes]
rs2435287	1.00[AMR][1000 genomes]
rs2482950	1.00[AMR][1000 genomes]
rs2482951	1.00[AMR][1000 genomes]
rs2482953	1.00[AMR][1000 genomes]
rs2482954	1.00[AMR][1000 genomes]
rs2482955	1.00[AMR][1000 genomes]
rs2482956	1.00[AMR][1000 genomes]
rs2482967	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2511194	1.00[AMR][1000 genomes]
rs2511195	1.00[AMR][1000 genomes]
rs2511196	1.00[AMR][1000 genomes]
rs2511197	1.00[AMR][1000 genomes]
rs2564858	1.00[AMR][1000 genomes]
rs2564859	1.00[AMR][1000 genomes]
rs2779115	1.00[AMR][1000 genomes]
rs2852638	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2990516	1.00[AMR][1000 genomes]
rs3097413	1.00[AMR][1000 genomes]
rs3097414	1.00[AMR][1000 genomes]
rs326000	1.00[AMR][1000 genomes]
rs365037	1.00[AMR][1000 genomes]
rs366221	1.00[AMR][1000 genomes]
rs368029	1.00[AMR][1000 genomes]
rs378794	1.00[AMR][1000 genomes]
rs385096	1.00[AMR][1000 genomes]
rs399832	1.00[AMR][1000 genomes]
rs405879	1.00[AMR][1000 genomes]
rs414409	1.00[AMR][1000 genomes]
rs423141	1.00[AMR][1000 genomes]
rs428594	1.00[AMR][1000 genomes]
rs431295	1.00[AMR][1000 genomes]
rs435080	1.00[AMR][1000 genomes]
rs443386	1.00[AMR][1000 genomes]
rs448387	1.00[AMR][1000 genomes]
rs450889	1.00[AMR][1000 genomes]
rs452233	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3491788	chr1:158537183-158725907	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv3491789	chr1:158537242-158725858	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv872481	chr1:158625789-158712510	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
4	nsv872482	chr1:158635852-158698532	Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	nsv872483	chr1:158635852-158712510	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 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	chr1:158634400-158652800	Strong transcription	K562	blood
2	chr1:158652200-158656200	Weak transcription	Monocytes-CD14+_RO01746	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links