Variant report

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

rs_ID	r²[population]
rs1997077	0.83[EUR][1000 genomes]
rs57278894	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60047991	0.94[EUR][1000 genomes]
rs60260944	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61374054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72975021	0.95[AMR][1000 genomes]
rs72975031	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs72975033	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72975034	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72975035	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs72975037	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72975041	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72975043	0.95[AMR][1000 genomes]
rs72975048	0.97[AFR][1000 genomes]
rs72975064	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72981063	0.92[EUR][1000 genomes]
rs72991755	0.94[EUR][1000 genomes]
rs72991765	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72991770	0.94[EUR][1000 genomes]
rs72991775	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv583198	chr2:141510791-142150620	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv875208	chr2:141657878-141795620	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1014208	chr2:141707558-141790148	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv817518	chr2:141714174-142287302	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv875210	chr2:141764693-141818657	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv875211	chr2:141764693-141846346	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:141773600-141806800	Weak transcription	Brain Angular Gyrus	brain
2	chr2:141774200-141785000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr2:141777400-141780400	Enhancers	HMEC	breast
4	chr2:141777600-141780600	Enhancers	HUVEC	blood vessel
5	chr2:141778200-141780400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:141778400-141780200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr2:141778800-141780200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:141779200-141780400	Enhancers	Muscle Satellite Cultured Cells	--
9	chr2:141779400-141782200	Weak transcription	NHDF-Ad	bronchial
10	chr2:141779800-141780400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr2:141780000-141780200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:141780000-141780200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:141780000-141780400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:141780000-141780400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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