Variant report

Variant	rs4695369
Chromosome Location	chr4:48307307-48307308
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:48306919..48308985-chr4:48310815..48312658,2	MCF-7	breast:
2	chr4:48307128..48308921-chr4:48310432..48312338,2	K562	blood:
3	chr4:48306231..48309120-chr4:48316707..48318275,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11723080	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11947400	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1812667	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2271265	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs309868	0.83[ASN][1000 genomes]
rs309870	0.83[ASN][1000 genomes]
rs309871	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs309873	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.92[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.83[ASN][1000 genomes]
rs309875	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.92[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.83[ASN][1000 genomes]
rs309887	1.00[EUR][1000 genomes]
rs418214	0.83[ASN][1000 genomes]
rs55784928	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55860639	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62309366	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62309367	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62309371	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62309372	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62309393	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62309398	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62309399	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62309400	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62309401	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62309402	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62311477	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62311483	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62311497	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6833004	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482316	chr4:48151953-48338746	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv1006610	chr4:48209294-48415387	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv537085	chr4:48209294-48415387	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv470032	chr4:48251915-48312389	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48300400-48309800	Weak transcription	Fetal Brain Male	brain
2	chr4:48307000-48308200	Enhancers	Fetal Brain Female	brain
3	chr4:48307200-48307600	Enhancers	K562	blood

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