Variant report

Variant	rs2252654
Chromosome Location	chr2:145801113-145801114
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10206585	0.87[EUR][1000 genomes]
rs10928241	0.88[EUR][1000 genomes]
rs12474485	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12476764	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12995180	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13384504	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1819055	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1830318	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1830320	0.88[EUR][1000 genomes]
rs1852686	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1881409	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1881410	0.81[EUR][1000 genomes]
rs2252383	0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34372836	0.87[EUR][1000 genomes]
rs35462154	0.81[EUR][1000 genomes]
rs6747171	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6749506	0.88[EUR][1000 genomes]
rs7423637	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7604735	0.87[EUR][1000 genomes]
rs7607110	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs957293	0.81[AMR][1000 genomes];0.88[EUR][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	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv932113	chr2:145515124-145844491	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv834398	chr2:145659419-145830156	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv431768	chr2:145741527-145981491	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr2:145789200-145802400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:145796000-145808600	Weak transcription	Ovary	ovary
3	chr2:145796200-145802400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:145799000-145801600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:145799400-145802400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:145799600-145801600	Enhancers	Brain Substantia Nigra	brain
7	chr2:145800200-145801800	Weak transcription	NHDF-Ad	bronchial
8	chr2:145800600-145801400	Enhancers	Brain Hippocampus Middle	brain
9	chr2:145800800-145802400	Enhancers	A549	lung
10	chr2:145801000-145801200	Enhancers	Aorta	Aorta
11	chr2:145801000-145801400	Enhancers	Left Ventricle	heart
12	chr2:145801000-145801600	Enhancers	Brain Cingulate Gyrus	brain

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