Variant report

Variant	rs2142857
Chromosome Location	chr1:210220901-210220902
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1016479	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1099864	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2205990	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs227185	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs227192	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs227208	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs227214	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs227215	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2357211	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2451693	0.81[AMR][1000 genomes]
rs2484029	0.81[AMR][1000 genomes]
rs2494187	0.87[AMR][1000 genomes]
rs2494188	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2743892	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61820393	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6540571	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs719034	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs846547	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs923561	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv873140	chr1:210068117-210335644	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv1821002	chr1:210108473-210291476	ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv947218	chr1:210214297-210221111	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210193400-210221000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:210195000-210221200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr1:210213000-210221800	Weak transcription	Brain Germinal Matrix	brain
4	chr1:210213000-210223800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:210215000-210221200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:210216800-210223000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:210217000-210221600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:210219200-210222400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:210220600-210221200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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