Variant report

Variant	rs4958942
Chromosome Location	chr5:177361679-177361680
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:177361640-177361790	GM12873	blood:	n/a	n/a
2	CTCF	chr5:177361400-177361690	HCFaa	heart:	n/a	n/a
3	CTCF	chr5:177361540-177361690	HCM	heart:	n/a	n/a
4	CTCF	chr5:177361620-177361770	HRE	kidney:	n/a	n/a
5	CTCF	chr5:177361560-177361710	RPTEC	kidney:	n/a	n/a
6	CTCF	chr5:177361400-177361690	BJ	skin:	n/a	n/a
7	CTCF	chr5:177361400-177361790	HPF	lung:	n/a	n/a
8	CTCF	chr5:177361620-177361770	AoAF	blood vessel:	n/a	n/a
9	CTCF	chr5:177361400-177361690	HCPEpiC	choroid plexus:	n/a	n/a
10	CTCF	chr5:177361400-177361690	HRPEpiC	eye:	n/a	n/a
11	CTCF	chr5:177361640-177361790	HPAF	blood vessel:	n/a	n/a
12	CTCF	chr5:177361400-177361690	HPAF	blood vessel:	n/a	n/a

Variant related genes	Relation type
ENSG00000250101	TF binding region

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10464113	0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs11738026	0.81[ASN][1000 genomes]
rs11740972	0.84[AFR][1000 genomes]
rs11742168	0.81[AFR][1000 genomes]
rs4246052	0.86[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs4318803	0.87[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs4318804	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4327608	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4428434	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4958980	0.88[AFR][1000 genomes]
rs4958982	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4958983	0.88[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs4958984	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4958992	0.81[ASN][1000 genomes]
rs4958995	0.80[AFR][1000 genomes]
rs4959000	0.81[ASN][1000 genomes]
rs6601187	0.88[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs6601188	0.91[AFR][1000 genomes]
rs6864280	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6866295	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6875120	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6875636	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6880829	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs6881018	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6891157	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6896989	0.80[AFR][1000 genomes]
rs6898992	0.82[AFR][1000 genomes]
rs7703493	0.81[ASN][1000 genomes]
rs9764397	0.81[AFR][1000 genomes]
rs9764398	0.91[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs9765519	0.90[AFR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024444	chr5:176751921-177427715	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	142 gene(s)	inside rSNPs	diseases
2	esv2752795	chr5:176898619-177488281	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv1033211	chr5:177133646-177383386	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1030383	chr5:177310325-177571254	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv883184	chr5:177311043-177488281	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv883185	chr5:177357964-177401509	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177357400-177365400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:177357800-177365600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:177358000-177365800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr5:177358000-177365800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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