Variant report

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

rs_ID	r²[population]
rs1016379	0.96[EUR][1000 genomes]
rs12031206	0.97[EUR][1000 genomes]
rs12035258	0.97[EUR][1000 genomes]
rs2139931	0.96[EUR][1000 genomes]
rs2642181	0.96[EUR][1000 genomes]
rs2642182	0.91[EUR][1000 genomes]
rs2642183	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2642184	0.96[EUR][1000 genomes]
rs2642185	0.89[EUR][1000 genomes]
rs2684911	0.97[EUR][1000 genomes]
rs2684914	0.98[EUR][1000 genomes]
rs2684916	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2811998	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2811999	0.91[EUR][1000 genomes]
rs2812001	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2812447	0.91[EUR][1000 genomes]
rs2812451	0.94[EUR][1000 genomes]
rs2812452	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72710880	0.91[EUR][1000 genomes]
rs72711180	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv546689	chr1:84531117-84670816	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv546690	chr1:84562265-84655238	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84569000-84585000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:84569200-84581400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr1:84569200-84587400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:84569200-84599600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr1:84569400-84579800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:84569400-84587400	Weak transcription	Ovary	ovary
7	chr1:84569800-84583600	Weak transcription	HSMM	muscle
8	chr1:84573800-84582400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr1:84574000-84583600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:84574000-84583600	Weak transcription	HMEC	breast
11	chr1:84574000-84587400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:84574800-84585600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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