Variant report

Variant	rs1976974
Chromosome Location	chr2:145806096-145806097
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10192407	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10201197	0.87[ASN][1000 genomes]
rs10209654	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10928240	0.92[EUR][1000 genomes]
rs12476764	0.82[AFR][1000 genomes]
rs12691705	0.87[EUR][1000 genomes]
rs13028626	0.87[EUR][1000 genomes]
rs1819055	0.85[AFR][1000 genomes]
rs1830319	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1830321	0.87[EUR][1000 genomes]
rs1852683	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1852684	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1852685	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1852686	0.80[AFR][1000 genomes]
rs1852687	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2252641	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2381686	0.82[EUR][1000 genomes]
rs4662414	0.81[EUR][1000 genomes]
rs6725803	0.87[EUR][1000 genomes]
rs7592365	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145796000-145808600	Weak transcription	Ovary	ovary
2	chr2:145801600-145807000	Weak transcription	Brain Substantia Nigra	brain
3	chr2:145803000-145815800	Weak transcription	NHDF-Ad	bronchial
4	chr2:145805200-145806200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:145805800-145806200	Enhancers	Esophagus	oesophagus
6	chr2:145806000-145807000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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