Variant report

Variant	rs2845764
Chromosome Location	chr21:37848811-37848812
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs13047783	0.86[ASN][1000 genomes]
rs170182	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs219759	0.83[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs219765	0.89[ASN][1000 genomes]
rs2249115	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2633334	0.98[ASN][1000 genomes]
rs2845766	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2845769	0.98[ASN][1000 genomes]
rs2850102	0.92[ASN][1000 genomes]
rs2850108	0.96[ASN][1000 genomes]
rs2850110	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35599107	0.88[ASN][1000 genomes]
rs35857368	0.89[ASN][1000 genomes]
rs55666618	0.87[ASN][1000 genomes]
rs59059205	0.91[ASN][1000 genomes]
rs59285877	0.91[ASN][1000 genomes]
rs59724458	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834090	chr21:37812545-38009542	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv33286	chr21:37827016-37861556	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv587470	chr21:37834641-37872447	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:37838000-37850800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr21:37838200-37849200	Weak transcription	Right Atrium	heart
3	chr21:37843400-37851000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr21:37843800-37849200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr21:37844400-37850000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr21:37844800-37849200	Weak transcription	NH-A	brain
7	chr21:37844800-37849200	Weak transcription	Osteobl	bone
8	chr21:37845000-37850000	Weak transcription	GM12878-XiMat	blood
9	chr21:37845400-37849000	Weak transcription	A549	lung
10	chr21:37846600-37849400	Weak transcription	HUVEC	blood vessel
11	chr21:37847400-37849800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr21:37848200-37849200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr21:37848400-37849200	Enhancers	HepG2	liver
14	chr21:37848400-37850400	Transcr. at gene 5' and 3'	Liver	Liver

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

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