Variant report

Variant	rs28493849
Chromosome Location	chr12:49694626-49694627
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:49692836..49694938-chr12:49697087..49698984,2	K562	blood:
2	chr12:49694201..49698333-chr12:49759487..49762379,3	K562	blood:
3	chr12:49664091..49667882-chr12:49690109..49694759,4	K562	blood:

Variant related genes	Relation type
ENSG00000123352	Chromatin interaction
ENSG00000258232	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10400435	0.85[ASN][1000 genomes]
rs10400567	0.85[ASN][1000 genomes]
rs11168970	0.86[AFR][1000 genomes]
rs11168973	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11168974	0.92[ASN][1000 genomes]
rs11168975	0.92[ASN][1000 genomes]
rs11503617	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11835037	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11835303	0.89[ASN][1000 genomes]
rs12301545	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12313488	0.96[ASN][1000 genomes]
rs12315095	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12315130	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12317532	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12322335	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12322783	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12322798	0.85[AFR][1000 genomes]
rs12580931	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12822293	0.85[ASN][1000 genomes]
rs2070760	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2236746	0.84[EUR][1000 genomes]
rs28543370	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28691217	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28798494	0.84[EUR][1000 genomes]
rs28823960	0.83[EUR][1000 genomes]
rs28857010	0.85[EUR][1000 genomes]
rs3088008	0.89[ASN][1000 genomes]
rs4243545	0.89[ASN][1000 genomes]
rs4898504	0.96[ASN][1000 genomes]
rs4898515	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4898516	0.82[EUR][1000 genomes]
rs4898519	0.80[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs57241318	0.92[ASN][1000 genomes]
rs59575791	0.89[ASN][1000 genomes]
rs61023481	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs67236923	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67309388	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68030039	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7136538	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7136945	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7294873	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7295247	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73112143	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73309977	0.89[ASN][1000 genomes]
rs7342318	0.84[EUR][1000 genomes]
rs7342370	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7342384	0.82[EUR][1000 genomes]
rs7488343	1.00[ASN][1000 genomes]
rs7976060	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
2	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases
4	nsv428801	chr12:49536659-49744884	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
5	nsv1042122	chr12:49678529-49823168	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
6	nsv1039176	chr12:49678529-49832618	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 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	chr12:49692600-49695000	Weak transcription	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links