Variant report

Variant	rs1446715
Chromosome Location	chr2:77210992-77210993
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10186167	1.00[EUR][1000 genomes]
rs10193399	1.00[AMR][1000 genomes]
rs10202468	1.00[EUR][1000 genomes]
rs10209686	1.00[EUR][1000 genomes]
rs13382600	1.00[EUR][1000 genomes]
rs13389599	1.00[EUR][1000 genomes]
rs13394351	1.00[AMR][1000 genomes]
rs13405495	1.00[EUR][1000 genomes]
rs17013488	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17013539	1.00[EUR][1000 genomes]
rs17013579	0.89[YRI][hapmap];0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17013582	0.84[YRI][hapmap];1.00[EUR][1000 genomes]
rs17013625	1.00[EUR][1000 genomes]
rs17013686	1.00[AMR][1000 genomes]
rs17013711	1.00[EUR][1000 genomes]
rs17013729	1.00[EUR][1000 genomes]
rs17013732	1.00[EUR][1000 genomes]
rs17406084	0.90[YRI][hapmap]
rs1900343	0.86[LWK][hapmap];0.84[YRI][hapmap];1.00[EUR][1000 genomes]
rs56779577	1.00[AMR][1000 genomes]
rs56785892	1.00[AMR][1000 genomes]
rs57142792	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57175018	1.00[EUR][1000 genomes]
rs57523279	1.00[AMR][1000 genomes]
rs57595972	1.00[AMR][1000 genomes]
rs57624759	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58065105	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58720566	1.00[AMR][1000 genomes]
rs58936600	1.00[EUR][1000 genomes]
rs59910712	1.00[AMR][1000 genomes]
rs60029001	1.00[EUR][1000 genomes]
rs61332902	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72911821	1.00[AMR][1000 genomes]
rs72911822	1.00[AMR][1000 genomes]
rs72911827	1.00[AMR][1000 genomes]
rs72912512	1.00[EUR][1000 genomes]
rs72912528	1.00[EUR][1000 genomes]
rs72912539	1.00[EUR][1000 genomes]
rs72927322	1.00[AMR][1000 genomes]
rs72927330	1.00[AMR][1000 genomes]
rs72927334	1.00[AMR][1000 genomes]
rs72929360	1.00[AMR][1000 genomes]
rs72929366	1.00[AMR][1000 genomes]
rs7595836	1.00[EUR][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	esv2752990	chr2:77038541-77217310	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv834266	chr2:77120236-77287504	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv949670	chr2:77125218-77712607	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77206200-77211200	Weak transcription	HUVEC	blood vessel
2	chr2:77206600-77211600	Weak transcription	Fetal Lung	lung
3	chr2:77206800-77211600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:77210600-77214200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:77210600-77214200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr2:77210800-77212200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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