Variant report

Variant	rs1446519
Chromosome Location	chr2:113822448-113822449
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	chr2:113820207..113823045-chr2:113825463..113827849,2	MCF-7	breast:
2	chr2:113819021..113821885-chr2:113822119..113824184,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136697	Chromatin interaction
ENSG00000136695	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10179714	0.94[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10184277	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10496448	1.00[CHB][hapmap];0.90[CHD][hapmap];0.92[GIH][hapmap];0.90[LWK][hapmap];1.00[TSI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1446520	1.00[CHB][hapmap];0.83[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17042709	0.87[CHB][hapmap]
rs17042735	0.87[CHB][hapmap]
rs17042786	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.91[ASN][1000 genomes]
rs17043031	1.00[AMR][1000 genomes]
rs28928271	1.00[AMR][1000 genomes]
rs28928286	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.89[ASN][1000 genomes]
rs28929173	1.00[AMR][1000 genomes]
rs28938772	1.00[AMR][1000 genomes]
rs34433610	1.00[AMR][1000 genomes]
rs34510646	1.00[AMR][1000 genomes]
rs35354222	1.00[AMR][1000 genomes]
rs35528124	1.00[AMR][1000 genomes]
rs35626718	1.00[AMR][1000 genomes]
rs35724334	1.00[AMR][1000 genomes]
rs35797500	1.00[AMR][1000 genomes]
rs35835383	1.00[AMR][1000 genomes]
rs35985961	1.00[AMR][1000 genomes]
rs36026956	1.00[AMR][1000 genomes]
rs36100241	1.00[AMR][1000 genomes]
rs3752739	0.87[CHB][hapmap]
rs3811049	1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3811050	0.83[CHB][hapmap]
rs45527538	1.00[AMR][1000 genomes]
rs45549331	1.00[AMR][1000 genomes]
rs6755354	0.82[CHB][hapmap]
rs6756735	0.81[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72944561	1.00[AMR][1000 genomes]
rs72944568	1.00[AMR][1000 genomes]
rs72944570	1.00[AMR][1000 genomes]
rs72944577	1.00[AMR][1000 genomes]
rs72944582	1.00[AMR][1000 genomes]
rs72952607	1.00[AMR][1000 genomes]
rs72952636	1.00[AMR][1000 genomes]
rs7558672	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7575934	0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.99[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	nsv532471	chr2:113682449-113862981	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv997348	chr2:113688093-113986508	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1007254	chr2:113726982-113887782	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv535894	chr2:113726982-113887782	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv2881	chr2:113800805-113846597	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113817000-113825400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:113817600-113826200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:113820600-113826600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:113822400-113823200	ZNF genes & repeats	Placenta	Placenta

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