Variant report

Variant	rs4714020
Chromosome Location	chr6:36848049-36848050
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:36844707..36849057-chr6:36849516..36855847,7	K562	blood:
2	chr6:36841754..36844106-chr6:36846593..36850227,6	MCF-7	breast:
3	chr6:36827534..36831660-chr6:36847624..36850020,3	K562	blood:
4	chr6:36841727..36844607-chr6:36847192..36849305,3	MCF-7	breast:
5	chr6:36846821..36848533-chr6:36952651..36955287,2	K562	blood:
6	chr6:36846305..36850172-chr6:36852075..36854803,3	K562	blood:

Variant related genes	Relation type
ENSG00000137409	Chromatin interaction
ENSG00000198663	Chromatin interaction
ENSG00000137168	Chromatin interaction

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

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

rs_ID	r²[population]
rs11751790	0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs11754437	0.92[ASN][1000 genomes]
rs11756425	0.85[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs11758600	0.93[ASN][1000 genomes]
rs12111266	0.89[YRI][hapmap];0.81[AFR][1000 genomes]
rs12529769	0.81[AFR][1000 genomes]
rs12661551	0.85[ASN][1000 genomes]
rs12664239	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2071822	0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs2071823	0.84[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs4711471	0.85[ASN][1000 genomes]
rs4711472	0.93[ASN][1000 genomes]
rs4714019	0.91[ASN][1000 genomes]
rs56302344	0.81[AFR][1000 genomes]
rs62406642	0.80[ASN][1000 genomes]
rs62406644	0.84[ASN][1000 genomes]
rs6900068	0.84[CHB][hapmap]
rs6910582	0.93[ASN][1000 genomes]
rs6912602	0.84[CHB][hapmap];0.82[ASN][1000 genomes]
rs6912891	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6913047	0.92[ASN][1000 genomes]
rs72846083	0.93[ASN][1000 genomes]
rs7745555	0.81[AFR][1000 genomes]
rs9349015	0.84[ASN][1000 genomes]
rs9349017	0.85[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs9357229	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9357230	0.82[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap]
rs9368965	0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs9380614	0.84[CHB][hapmap];0.90[JPT][hapmap];0.91[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	nsv1023171	chr6:36686935-36880899	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv538202	chr6:36686935-36880899	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1030015	chr6:36818510-37104446	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv916833	chr6:36826524-37029833	Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36843600-36853000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:36843800-36853000	Weak transcription	Osteobl	bone
3	chr6:36847600-36853000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:36847800-36848600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:36847800-36852600	Weak transcription	Fetal Heart	heart
6	chr6:36848000-36853000	Weak transcription	K562	blood

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