Variant report

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1095573	0.88[AFR][1000 genomes]
rs11537523	0.95[AFR][1000 genomes]
rs1523119	0.80[AFR][1000 genomes]
rs1533918	0.88[AFR][1000 genomes]
rs1615648	0.82[AFR][1000 genomes]
rs1719833	0.84[AFR][1000 genomes]
rs1996879	0.88[AFR][1000 genomes]
rs55845087	1.00[EUR][1000 genomes]
rs56091726	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56310820	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60539249	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7136317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73269146	1.00[EUR][1000 genomes]
rs73269173	1.00[EUR][1000 genomes]
rs73271127	1.00[EUR][1000 genomes]
rs73273181	1.00[EUR][1000 genomes]
rs73274726	1.00[EUR][1000 genomes]
rs73274734	1.00[EUR][1000 genomes]
rs73274737	1.00[EUR][1000 genomes]
rs73274747	1.00[EUR][1000 genomes]
rs73274761	1.00[EUR][1000 genomes]
rs73274764	1.00[EUR][1000 genomes]
rs73274767	1.00[EUR][1000 genomes]
rs74087366	1.00[EUR][1000 genomes]
rs826861	0.84[AFR][1000 genomes]
rs826862	0.84[AFR][1000 genomes]
rs826867	0.84[AFR][1000 genomes]
rs862331	0.84[AFR][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	nsv469356	chr12:38242029-39187408	Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv558574	chr12:38242029-39187408	Strong transcription ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv676	chr12:39184359-39215822	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS	lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39153800-39188600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:39169400-39186600	Weak transcription	Hela-S3	cervix
3	chr12:39177400-39188600	Weak transcription	Lung	lung
4	chr12:39180200-39188600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr12:39182600-39202800	Weak transcription	Liver	Liver
6	chr12:39184200-39186400	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr12:39184200-39205800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:39185400-39185800	Enhancers	NHEK	skin

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