Variant report

Variant	rs57817021
Chromosome Location	chr2:37038075-37038076
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10200515	0.92[ASN][1000 genomes]
rs10200548	0.93[ASN][1000 genomes]
rs11124546	0.82[ASN][1000 genomes]
rs11124547	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11124548	0.90[ASN][1000 genomes]
rs11892193	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11901202	0.98[ASN][1000 genomes]
rs11902881	0.81[ASN][1000 genomes]
rs12622304	0.81[ASN][1000 genomes]
rs13003338	0.88[ASN][1000 genomes]
rs13009450	0.88[ASN][1000 genomes]
rs13417089	0.94[ASN][1000 genomes]
rs13417363	0.94[ASN][1000 genomes]
rs17019854	0.81[ASN][1000 genomes]
rs2072525	0.86[ASN][1000 genomes]
rs2072526	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4670170	0.81[ASN][1000 genomes]
rs4670172	0.93[ASN][1000 genomes]
rs4670620	0.91[ASN][1000 genomes]
rs4670627	0.86[ASN][1000 genomes]
rs56740767	0.84[ASN][1000 genomes]
rs57032858	0.82[ASN][1000 genomes]
rs60390214	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62132498	0.81[EUR][1000 genomes]
rs62132499	0.81[EUR][1000 genomes]
rs62132503	0.81[EUR][1000 genomes]
rs72867896	0.81[EUR][1000 genomes]
rs72867902	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7563483	0.81[EUR][1000 genomes]
rs7592382	0.98[ASN][1000 genomes]
rs759435	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv428395	chr2:36990348-37300352	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv2682	chr2:37015550-37060432	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1011014	chr2:37027819-37095895	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv999465	chr2:37029347-37095895	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	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	chr2:37027400-37044200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr2:37034600-37042800	Weak transcription	Ovary	ovary
3	chr2:37036000-37042600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:37036200-37044200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:37036400-37039200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:37037800-37042800	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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