Variant report

Variant	rs2984260
Chromosome Location	chr20:23961742-23961743
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1806743	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2379307	0.97[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2983542	0.90[AFR][1000 genomes]
rs2984251	0.97[AFR][1000 genomes]
rs2984252	0.94[AFR][1000 genomes]
rs2984254	0.97[AFR][1000 genomes]
rs2984255	0.97[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2984256	0.97[AFR][1000 genomes]
rs2984257	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2984258	0.91[AFR][1000 genomes]
rs2984262	0.84[ASN][1000 genomes]
rs3004166	0.97[AFR][1000 genomes]
rs3004167	0.97[AFR][1000 genomes]
rs3004171	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4009421	0.86[ASN][1000 genomes]
rs58368992	0.86[ASN][1000 genomes]
rs60371959	0.92[ASN][1000 genomes]
rs7260970	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491876	chr20:23436633-24031374	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv833944	chr20:23806288-24021865	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1063474	chr20:23918394-24048069	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv9793	chr20:23939613-24734850	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv1056491	chr20:23955040-24105080	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv15775	chr20:23955662-23977093	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv820636	chr20:23956042-23976910	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	esv18738	chr20:23956042-23994680	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	esv1806279	chr20:23956609-23980100	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv962566	chr20:23956974-23967112	Enhancers ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
11	nsv962565	chr20:23956974-23976574	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23959000-23963400	Enhancers	Fetal Muscle Trunk	muscle
2	chr20:23959400-23962200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr20:23960200-23963200	Weak transcription	A549	lung
4	chr20:23960200-23963400	Enhancers	Fetal Muscle Leg	muscle
5	chr20:23960400-23963400	Enhancers	Fetal Stomach	stomach
6	chr20:23960600-23961800	Enhancers	Fetal Heart	heart
7	chr20:23960600-23962400	Enhancers	HepG2	liver
8	chr20:23960800-23962000	Enhancers	Right Ventricle	heart
9	chr20:23961000-23961800	Enhancers	Fetal Thymus	thymus
10	chr20:23961000-23962800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr20:23961000-23963000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
12	chr20:23961200-23961800	Enhancers	Fetal Lung	lung
13	chr20:23961400-23962200	Weak transcription	Pancreas	Pancrea
14	chr20:23961400-23963000	Weak transcription	Esophagus	oesophagus
15	chr20:23961400-23965800	Weak transcription	Lung	lung

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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