Variant report

Variant	rs1521947
Chromosome Location	chr2:53670488-53670489
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:53669776..53671843-chr2:53678580..53680158,2	K562	blood:
2	chr2:53665612..53667595-chr2:53670041..53672897,2	K562	blood:
3	chr2:53649827..53650366-chr2:53669841..53670500,2	MCF-7	breast:
4	chr2:53669933..53670563-chr2:53942920..53943446,2	MCF-7	breast:

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs11125496	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11125497	0.81[ASN][1000 genomes]
rs11125498	0.84[ASN][1000 genomes]
rs11125499	0.81[ASN][1000 genomes]
rs11125500	0.83[ASN][1000 genomes]
rs11674306	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11680345	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11886009	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11888392	0.81[ASN][1000 genomes]
rs11888396	0.81[ASN][1000 genomes]
rs11888464	0.81[ASN][1000 genomes]
rs11888509	0.81[ASN][1000 genomes]
rs11888557	0.81[ASN][1000 genomes]
rs11890024	0.81[ASN][1000 genomes]
rs11891803	0.91[ASN][1000 genomes]
rs11894955	0.85[ASN][1000 genomes]
rs12465172	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12470776	0.86[ASN][1000 genomes]
rs12477071	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12613505	0.81[ASN][1000 genomes]
rs12616103	0.81[ASN][1000 genomes]
rs12619813	0.82[ASN][1000 genomes]
rs12999083	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13025722	0.91[ASN][1000 genomes]
rs13030553	0.86[ASN][1000 genomes]
rs1389572	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1402899	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1494021	0.84[ASN][1000 genomes]
rs1494022	0.84[ASN][1000 genomes]
rs1521924	0.89[ASN][1000 genomes]
rs1521925	0.89[ASN][1000 genomes]
rs1521927	0.89[ASN][1000 genomes]
rs1521928	0.89[ASN][1000 genomes]
rs1521932	0.89[CEU][hapmap];0.81[CHB][hapmap];0.87[JPT][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1521949	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1521950	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17044757	0.81[ASN][1000 genomes]
rs1879716	0.84[ASN][1000 genomes]
rs1879717	0.83[ASN][1000 genomes]
rs2357353	0.84[ASN][1000 genomes]
rs2357354	0.83[ASN][1000 genomes]
rs2357355	0.84[ASN][1000 genomes]
rs2357356	0.83[ASN][1000 genomes]
rs2357357	0.83[ASN][1000 genomes]
rs2357358	0.81[ASN][1000 genomes]
rs35278733	0.81[ASN][1000 genomes]
rs35423765	0.81[ASN][1000 genomes]
rs4330141	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4365499	0.82[ASN][1000 genomes]
rs4467313	0.83[ASN][1000 genomes]
rs4566397	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4671405	0.83[ASN][1000 genomes]
rs4672418	0.88[ASN][1000 genomes]
rs4672419	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4672420	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4672432	0.86[ASN][1000 genomes]
rs4672433	0.86[ASN][1000 genomes]
rs4672434	0.85[ASN][1000 genomes]
rs4672435	0.85[ASN][1000 genomes]
rs60013509	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs60179496	0.86[ASN][1000 genomes]
rs61691489	0.81[ASN][1000 genomes]
rs6419624	0.84[ASN][1000 genomes]
rs6545347	0.82[ASN][1000 genomes]
rs6545348	0.84[ASN][1000 genomes]
rs66734139	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6708142	0.84[ASN][1000 genomes]
rs6708820	0.81[ASN][1000 genomes]
rs6718796	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6719172	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6747348	0.86[ASN][1000 genomes]
rs6748128	0.88[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6748135	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6750492	0.84[ASN][1000 genomes]
rs6759201	0.81[ASN][1000 genomes]
rs7564138	0.80[ASN][1000 genomes]
rs7576429	0.89[ASN][1000 genomes]
rs7588880	0.89[ASN][1000 genomes]
rs7603213	0.80[ASN][1000 genomes]
rs882249	0.87[ASN][1000 genomes]
rs909050	0.81[ASN][1000 genomes]
rs909051	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs995151	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002145	chr2:53387912-53832213	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv535718	chr2:53387912-53832213	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv997401	chr2:53515629-53863347	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv3383918	chr2:53585059-53710179	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv984438	chr2:53649278-53685651	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53665600-53672800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:53665800-53672800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr2:53666000-53671400	Weak transcription	Hela-S3	cervix
4	chr2:53667800-53675000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:53669000-53670600	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr2:53669600-53679800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr2:53670000-53672200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr2:53670400-53671400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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