Variant report

Variant	rs249433
Chromosome Location	chr5:40812450-40812451
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:40802145..40803707-chr5:40812123..40813694,2	K562	blood:
2	chr5:40797904..40799994-chr5:40810976..40813570,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000132356	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs152374	0.94[ASN][1000 genomes]
rs152376	1.00[ASN][1000 genomes]
rs154269	0.94[ASN][1000 genomes]
rs154270	1.00[ASN][1000 genomes]
rs154271	1.00[ASN][1000 genomes]
rs154272	0.88[ASN][1000 genomes]
rs154276	0.94[ASN][1000 genomes]
rs154277	0.94[ASN][1000 genomes]
rs154278	0.94[ASN][1000 genomes]
rs154282	0.94[ASN][1000 genomes]
rs154283	0.94[ASN][1000 genomes]
rs1645509	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs166282	0.88[ASN][1000 genomes]
rs173618	1.00[ASN][1000 genomes]
rs173619	0.88[ASN][1000 genomes]
rs181818	0.89[ASN][1000 genomes]
rs181819	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs181820	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs181821	0.88[ASN][1000 genomes]
rs183138	1.00[ASN][1000 genomes]
rs185114	0.94[ASN][1000 genomes]
rs185115	0.94[ASN][1000 genomes]
rs185381	0.94[ASN][1000 genomes]
rs249408	0.81[ASN][1000 genomes]
rs249409	0.81[ASN][1000 genomes]
rs249411	0.81[ASN][1000 genomes]
rs249412	0.81[ASN][1000 genomes]
rs249421	0.94[ASN][1000 genomes]
rs249424	0.94[ASN][1000 genomes]
rs249426	0.94[ASN][1000 genomes]
rs249427	0.94[ASN][1000 genomes]
rs249431	0.94[ASN][1000 genomes]
rs249432	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs249434	1.00[ASN][1000 genomes]
rs249435	1.00[ASN][1000 genomes]
rs249439	0.88[ASN][1000 genomes]
rs29737	0.94[ASN][1000 genomes]
rs29741	0.94[ASN][1000 genomes]
rs34236150	0.88[ASN][1000 genomes]
rs370346	0.88[ASN][1000 genomes]
rs380334	0.94[ASN][1000 genomes]
rs382916	0.94[ASN][1000 genomes]
rs396412	0.88[ASN][1000 genomes]
rs4129381	0.81[ASN][1000 genomes]
rs424787	0.88[ASN][1000 genomes]
rs438604	0.88[ASN][1000 genomes]
rs441016	0.88[ASN][1000 genomes]
rs445367	0.88[ASN][1000 genomes]
rs455374	0.88[ASN][1000 genomes]
rs455519	0.94[ASN][1000 genomes]
rs456929	0.94[ASN][1000 genomes]
rs456995	0.94[ASN][1000 genomes]
rs457111	0.88[ASN][1000 genomes]
rs458884	0.88[ASN][1000 genomes]
rs459491	0.88[ASN][1000 genomes]
rs459794	0.88[ASN][1000 genomes]
rs460752	0.88[ASN][1000 genomes]
rs461612	0.94[ASN][1000 genomes]
rs463040	0.88[ASN][1000 genomes]
rs463675	0.88[ASN][1000 genomes]
rs463905	0.88[ASN][1000 genomes]
rs464045	0.88[ASN][1000 genomes]
rs464191	0.88[ASN][1000 genomes]
rs465467	0.88[ASN][1000 genomes]
rs467438	0.88[ASN][1000 genomes]
rs6495	1.00[AMR][1000 genomes]
rs6861744	1.00[AMR][1000 genomes]
rs704032	1.00[ASN][1000 genomes]
rs704033	1.00[ASN][1000 genomes]
rs7716239	1.00[AMR][1000 genomes]
rs837100	0.94[ASN][1000 genomes]
rs837105	0.94[ASN][1000 genomes]
rs837119	0.81[ASN][1000 genomes]
rs837267	0.94[ASN][1000 genomes]
rs837279	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881070	chr5:40753877-40827307	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv880438	chr5:40753877-40900717	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	160 gene(s)	inside rSNPs	diseases
3	nsv597877	chr5:40796746-40848803	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	158 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40808400-40826600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr5:40808600-40814000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:40808800-40825600	Weak transcription	HSMM	muscle
4	chr5:40809000-40813800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr5:40811400-40813200	Enhancers	K562	blood

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