Variant report

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11889422	0.91[EUR][1000 genomes]
rs17235072	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17726336	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34048155	0.87[EUR][1000 genomes]
rs4435391	0.83[EUR][1000 genomes]
rs56389925	0.90[EUR][1000 genomes]
rs6709711	0.83[AMR][1000 genomes]
rs72991868	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72991898	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72993710	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72993758	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72995630	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72995661	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72995674	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72995682	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72997604	0.83[AMR][1000 genomes]
rs73006162	0.83[AMR][1000 genomes]
rs7587613	1.00[EUR][1000 genomes]
rs7606091	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs992029	1.00[CEU][hapmap];0.89[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	nsv1000214	chr2:209987607-210308626	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv536133	chr2:209987607-210308626	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1003864	chr2:210063871-210308626	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv834518	chr2:210204958-210372744	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210246800-210248000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr2:210247200-210248600	Enhancers	HMEC	breast
3	chr2:210247200-210249000	Enhancers	Placenta Amnion	Placenta Amnion
4	chr2:210247400-210248600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:210247400-210248600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr2:210247400-210248800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:210247400-210248800	Enhancers	NHEK	skin

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