Variant report

Variant	rs2022718
Chromosome Location	chr14:37423709-37423710
allele	A/T
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]
rs1156170	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11844605	0.88[ASN][1000 genomes]
rs12887020	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1367030	0.92[ASN][1000 genomes]
rs1429842	0.88[ASN][1000 genomes]
rs1429843	0.88[ASN][1000 genomes]
rs1429844	0.88[ASN][1000 genomes]
rs17105735	0.88[ASN][1000 genomes]
rs17105737	0.88[ASN][1000 genomes]
rs17105755	0.88[ASN][1000 genomes]
rs17105763	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2022719	0.84[EUR][1000 genomes]
rs2022720	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2022721	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59381342	0.88[ASN][1000 genomes]
rs61989472	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7141518	0.88[ASN][1000 genomes]
rs7156730	0.88[ASN][1000 genomes]
rs8015869	0.91[ASN][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	nsv1047290	chr14:36564568-37445157	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
2	nsv534288	chr14:37254539-37697745	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1050254	chr14:37400173-37445157	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
4	esv2830246	chr14:37417440-37424770	Enhancers Weak transcription	TF binding region Chromatin interactive region miRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:37413800-37437400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:37414200-37424800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr14:37420400-37425200	Enhancers	Muscle Satellite Cultured Cells	--
4	chr14:37421000-37424800	Enhancers	HSMMtube	muscle
5	chr14:37421200-37425000	Enhancers	HSMM	muscle
6	chr14:37421800-37424200	Enhancers	NHDF-Ad	bronchial
7	chr14:37422600-37425000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:37422800-37424200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr14:37423400-37424000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr14:37423600-37426600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr14:37423600-37428400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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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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