Variant report

Variant	rs2408267
Chromosome Location	chr12:45944322-45944323
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:45942458..45944629-chr12:45945848..45948154,2	K562	blood:
2	chr12:45939862..45941982-chr12:45942145..45944369,2	K562	blood:
3	chr12:45943439..45945382-chr12:46120675..46122919,3	MCF-7	breast:
4	chr12:45941297..45944696-chr12:46119825..46122754,3	K562	blood:
5	chr12:45932018..45945296-chr12:46116937..46125620,30	MCF-7	breast:
6	chr12:45937645..45942060-chr12:45942145..45945791,6	K562	blood:

Variant related genes	Relation type
ENSG00000189079	Chromatin interaction
ENSG00000273015	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10161233	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs10748428	0.88[EUR][1000 genomes]
rs11183104	0.89[CEU][hapmap];0.96[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs11183105	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183112	0.96[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12366804	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12368524	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2408262	0.85[CEU][hapmap];0.86[EUR][1000 genomes]
rs2408268	0.89[CEU][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2408269	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2408270	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4438105	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4444141	1.00[CHB][hapmap]
rs4550277	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4592483	0.83[ASN][1000 genomes]
rs4768636	1.00[CHB][hapmap];0.81[AMR][1000 genomes]
rs4768639	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768640	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7132173	1.00[CHB][hapmap]
rs7957597	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7976247	0.83[ASN][1000 genomes]
rs7979337	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45942600-45945200	Weak transcription	Esophagus	oesophagus
2	chr12:45943600-45945200	Weak transcription	Fetal Thymus	thymus
3	chr12:45943600-45945400	Weak transcription	Thymus	Thymus

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