Variant report

Variant	rs11939730
Chromosome Location	chr4:87800053-87800054
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:87799265..87800918-chr4:87810195..87812041,2	K562	blood:
2	chr4:87514088..87517377-chr4:87799089..87802650,3	MCF-7	breast:
3	chr4:87799011..87801836-chr4:87812116..87814217,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163633	Chromatin interaction
ENSG00000163629	Chromatin interaction
ENSG00000109339	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10017360	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11731586	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11935015	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12503661	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13128982	0.93[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs13137142	0.88[ASN][1000 genomes]
rs13141097	0.84[ASN][1000 genomes]
rs1374934	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1550931	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2594281	0.87[ASN][1000 genomes]
rs2594282	0.87[ASN][1000 genomes]
rs2594284	0.89[ASN][1000 genomes]
rs2705622	1.00[ASN][1000 genomes]
rs2705623	0.95[ASN][1000 genomes]
rs2705624	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2705626	0.89[ASN][1000 genomes]
rs2705627	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2904149	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2922234	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4508849	0.84[ASN][1000 genomes]
rs4693788	0.86[ASN][1000 genomes]
rs4693789	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56414102	0.87[ASN][1000 genomes]
rs57477100	0.93[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6531936	0.88[ASN][1000 genomes]
rs6531937	0.88[ASN][1000 genomes]
rs73838351	0.88[ASN][1000 genomes]
rs7656537	0.86[ASN][1000 genomes]
rs7663218	0.88[ASN][1000 genomes]
rs8180256	0.87[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	nsv594787	chr4:87221827-87888667	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1013308	chr4:87769694-87870168	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv508297	chr4:87778783-87868508	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv1009937	chr4:87795314-88008345	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87798800-87801200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr4:87800000-87800600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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