Variant report

Variant	rs2408249
Chromosome Location	chr12:45935360-45935361
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:45932625..45935363-chr12:45935475..45937376,2	K562	blood:
2	chr12:45932018..45945296-chr12:46116937..46125620,30	MCF-7	breast:
3	chr12:45934191..45936111-chr12:45937786..45940550,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000273015	Chromatin interaction
ENSG00000189079	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10785581	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10880808	0.80[EUR][1000 genomes]
rs10880809	0.82[EUR][1000 genomes]
rs10880810	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10880813	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10880815	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11183092	0.80[EUR][1000 genomes]
rs11183094	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11183098	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11183099	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11183101	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11183103	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11514430	0.82[EUR][1000 genomes]
rs1806689	0.84[EUR][1000 genomes]
rs2897908	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3958762	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4450222	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4600280	0.90[AFR][1000 genomes]
rs4601849	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs4606536	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4768631	0.82[EUR][1000 genomes]
rs4768633	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4768635	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56295584	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61923980	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7296623	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7297465	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7303050	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7960483	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832395	chr12:45841765-46039297	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv691	chr12:45896295-45946455	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv1842210	chr12:45903118-45940761	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv3443760	chr12:45913734-45935783	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 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	chr12:45934800-45935400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:45935200-45937000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:45935200-45937200	Weak transcription	Fetal Thymus	thymus
4	chr12:45935200-45937200	Weak transcription	Dnd41	blood
5	chr12:45935200-45940400	Weak transcription	Thymus	Thymus

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