Variant report

Variant	rs60615254
Chromosome Location	chr2:209867517-209867518
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs55836807	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55984377	1.00[AMR][1000 genomes]
rs56784517	0.83[AMR][1000 genomes]
rs57099283	0.83[AMR][1000 genomes]
rs57820610	0.83[AMR][1000 genomes]
rs58494981	0.83[AMR][1000 genomes]
rs60788347	0.83[AMR][1000 genomes]
rs73983904	0.83[AMR][1000 genomes]
rs73985813	0.89[AFR][1000 genomes]
rs73985814	0.89[AFR][1000 genomes]
rs73985815	0.95[AFR][1000 genomes]
rs73985816	0.95[AFR][1000 genomes]
rs73985817	0.95[AFR][1000 genomes]
rs73985818	0.95[AFR][1000 genomes]
rs73985819	0.95[AFR][1000 genomes]
rs73985820	0.95[AFR][1000 genomes]
rs73985838	0.95[AFR][1000 genomes]
rs73986658	0.83[AMR][1000 genomes]
rs73986659	0.83[AMR][1000 genomes]
rs73986660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73986670	0.83[AMR][1000 genomes]
rs73986671	0.83[AMR][1000 genomes]
rs73986672	0.83[AMR][1000 genomes]
rs73986674	0.83[AMR][1000 genomes]
rs73986676	0.83[AMR][1000 genomes]
rs73986677	0.83[AMR][1000 genomes]
rs73986687	0.83[AMR][1000 genomes]
rs73986689	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73986695	0.83[AMR][1000 genomes]
rs73988637	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012184	chr2:209755847-210049331	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv536131	chr2:209755847-210049331	Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv3487576	chr2:209768379-209947296	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv3487577	chr2:209768379-209947296	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1009924	chr2:209805661-210042572	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv875760	chr2:209817526-209929978	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv1002578	chr2:209836205-210026339	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv536132	chr2:209836205-210026339	Bivalent Enhancer ZNF genes & repeats Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv526239	chr2:209864064-209877078	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209865200-209868800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:209866000-209868400	Weak transcription	Placenta Amnion	Placenta Amnion

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