Variant report

Variant	rs624753
Chromosome Location	chr2:50487105-50487106
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10153791	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10183892	0.96[CEU][hapmap]
rs11886027	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13001290	0.96[CEU][hapmap]
rs13030223	0.96[CEU][hapmap]
rs13429626	0.96[CEU][hapmap];1.00[GIH][hapmap];0.80[MKK][hapmap];0.98[TSI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1400882	0.96[CEU][hapmap];0.87[JPT][hapmap]
rs1546656	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1712879	1.00[CEU][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];0.88[MKK][hapmap];0.98[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1712896	1.00[CEU][hapmap]
rs1712897	0.96[CEU][hapmap]
rs1712904	0.96[CEU][hapmap];1.00[GIH][hapmap];0.98[TSI][hapmap]
rs1712905	0.92[CEU][hapmap];1.00[GIH][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1715968	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1715971	0.96[CEU][hapmap]
rs1715972	0.96[CEU][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2056347	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2056348	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2678216	0.96[CEU][hapmap];0.93[JPT][hapmap]
rs2681998	0.96[CEU][hapmap]
rs2681999	0.96[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2682004	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28503958	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35208239	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs475787	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs480327	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs505449	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs523003	0.96[CEU][hapmap];1.00[GIH][hapmap];0.98[TSI][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs525115	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs548271	0.96[CEU][hapmap];0.93[JPT][hapmap]
rs557924	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs575480	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs585144	0.96[CEU][hapmap];0.80[CHB][hapmap];0.87[JPT][hapmap]
rs587928	0.96[CEU][hapmap];0.95[GIH][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap]
rs588263	0.96[CEU][hapmap]
rs594114	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60127636	0.85[EUR][1000 genomes]
rs604159	0.88[CEU][hapmap];0.93[GIH][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs648046	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap]
rs68019345	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs694010	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs694309	0.96[CEU][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7556989	0.96[CEU][hapmap]
rs9309179	0.92[CEU][hapmap];1.00[GIH][hapmap];0.98[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][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	esv3388948	chr2:50092667-50602681	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3399511	chr2:50092687-50602651	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv932915	chr2:50306630-50628415	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1002344	chr2:50326207-50518933	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv535692	chr2:50326207-50518933	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv492164	chr2:50399251-51029090	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1000653	chr2:50417660-51083470	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv535693	chr2:50417660-51083470	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv470459	chr2:50431752-50514027	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	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	chr2:50485400-50487400	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr2:50485800-50487600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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