Variant report

Variant	rs28585422
Chromosome Location	chr2:188054955-188054956
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10174402	1.00[AMR][1000 genomes]
rs10174460	1.00[AMR][1000 genomes]
rs10176533	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10203685	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10208253	1.00[AMR][1000 genomes]
rs10221846	1.00[AMR][1000 genomes]
rs10931287	1.00[AMR][1000 genomes]
rs13391909	1.00[AMR][1000 genomes]
rs13399503	1.00[AMR][1000 genomes]
rs13401664	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13409677	1.00[AMR][1000 genomes]
rs13414158	1.00[AMR][1000 genomes]
rs13427655	1.00[AMR][1000 genomes]
rs13432027	1.00[AMR][1000 genomes]
rs28363963	1.00[AMR][1000 genomes]
rs28458997	1.00[AMR][1000 genomes]
rs6434212	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6721057	1.00[AMR][1000 genomes]
rs6724725	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6747392	1.00[AMR][1000 genomes]
rs7578599	1.00[AMR][1000 genomes]
rs7583999	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7596332	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949700	chr2:187713412-188361211	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv875553	chr2:187856937-188067355	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv431857	chr2:187930023-188098798	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1003061	chr2:187950057-188282330	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1000617	chr2:187950057-188290511	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv875555	chr2:188023107-188143677	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv2751839	chr2:188035947-188141690	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	esv2763652	chr2:188042583-188153257	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1004711	chr2:188044247-188142073	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv997699	chr2:188052351-188142073	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188052200-188055600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:188053200-188055000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:188054600-188055400	Enhancers	Stomach Mucosa	stomach

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