Variant report

Variant	rs4731427
Chromosome Location	chr7:127884389-127884390
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:127883949..127886357-chr7:127899008..127901184,2	K562	blood:
2	chr7:127882313..127884523-chr7:127888725..127892714,3	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10264361	0.84[EUR][1000 genomes]
rs10954174	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[ASN][1000 genomes]
rs13306517	0.86[ASN][1000 genomes]
rs1376349	0.82[EUR][1000 genomes]
rs2021808	0.82[EUR][1000 genomes]
rs2060713	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2122627	0.80[ASW][hapmap];0.85[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2167271	0.85[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs2278814	1.00[ASN][1000 genomes]
rs28954080	0.88[EUR][1000 genomes]
rs28954101	0.88[EUR][1000 genomes]
rs28954373	1.00[ASN][1000 genomes]
rs3793162	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs41528456	0.86[ASN][1000 genomes]
rs4236625	0.91[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4731424	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs59214919	1.00[ASN][1000 genomes]
rs6956510	0.82[ASN][1000 genomes]
rs72550733	1.00[ASN][1000 genomes]
rs72563752	1.00[ASN][1000 genomes]
rs72563765	1.00[ASN][1000 genomes]
rs7788818	1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7795794	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs791603	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs791604	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs791606	0.95[ASN][1000 genomes]
rs791616	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs791617	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs791620	0.96[AMR][1000 genomes];0.88[EUR][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	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	esv33413	chr7:127800064-127929303	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	nsv429811	chr7:127857891-127889049	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127878600-127887400	Weak transcription	Right Atrium	heart
2	chr7:127881400-127887400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:127881600-127885200	Enhancers	Placenta	Placenta
4	chr7:127882000-127887000	Weak transcription	HSMMtube	muscle
5	chr7:127883200-127885600	Flanking Active TSS	Adipose Nuclei	Adipose

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