Variant report

Variant	rs172725
Chromosome Location	chr5:96421026-96421027
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11739416	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11739448	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11749186	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11958159	0.81[ASN][1000 genomes]
rs13154242	0.80[ASN][1000 genomes]
rs13167931	0.81[ASN][1000 genomes]
rs13173677	0.81[ASN][1000 genomes]
rs186414	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs221970	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2544775	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs316187	0.82[ASN][1000 genomes]
rs316188	0.82[ASN][1000 genomes]
rs316189	0.82[ASN][1000 genomes]
rs316220	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs316221	0.81[ASN][1000 genomes]
rs316225	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs316226	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs316227	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs316228	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[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	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv598962	chr5:96057891-96893164	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv4924	chr5:96391451-96437233	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv969966	chr5:96418895-96427787	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv3401398	chr5:96419846-96422344	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96414600-96421400	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr5:96415400-96422800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:96420800-96421400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:96420800-96421400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr5:96420800-96421800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
6	chr5:96420800-96421800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:96420800-96423200	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr5:96421000-96421200	Weak transcription	Primary B cells from peripheral blood	blood
9	chr5:96421000-96421600	Enhancers	Primary B cells from cord blood	blood

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

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