Variant report

Variant	rs58216749
Chromosome Location	chr11:93858878-93858879
allele	C/G
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	NFYA	chr11:93858484-93858950	K562	blood:	n/a	chr11:93858701-93858719
2	NFYB	chr11:93858486-93859037	K562	blood:	n/a	chr11:93858722-93858737 chr11:93858746-93858761
3	SP1	chr11:93858480-93858896	GM12878	blood:	n/a	n/a
4	CBX3	chr11:93858423-93858990	K562	blood:	n/a	n/a
5	NFYB	chr11:93858583-93858962	Hela-S3	cervix:	n/a	chr11:93858722-93858737 chr11:93858746-93858761
6	SP1	chr11:93858496-93858960	K562	blood:	n/a	n/a
7	NFYB	chr11:93858512-93859157	GM12878	blood:	n/a	chr11:93858722-93858737 chr11:93858746-93858761

Variant related genes	Relation type
PANX1	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11828881	0.93[ASN][1000 genomes]
rs56723829	0.94[ASN][1000 genomes]
rs58049964	0.90[ASN][1000 genomes]
rs58863592	0.90[ASN][1000 genomes]
rs58965645	0.94[ASN][1000 genomes]
rs59768849	0.90[ASN][1000 genomes]
rs61671722	1.00[EUR][1000 genomes]
rs67060752	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7102046	0.90[ASN][1000 genomes]
rs7120920	0.90[ASN][1000 genomes]
rs72968735	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs72968739	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs72968751	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs72968770	0.94[ASN][1000 genomes]
rs72968772	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72968780	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72968785	0.94[ASN][1000 genomes]
rs72968788	0.97[ASN][1000 genomes]
rs72968791	0.88[ASN][1000 genomes]
rs72970708	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72970709	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72970719	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72970727	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73512252	0.90[ASN][1000 genomes]
rs7925027	0.93[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	nsv898183	chr11:93725384-93906735	Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv898184	chr11:93741612-93969726	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1046092	chr11:93833446-93964452	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv523082	chr11:93834223-93866147	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv508651	chr11:93834300-93880470	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv898185	chr11:93851048-93927529	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93843400-93860600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:93852000-93860600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr11:93854600-93860800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:93854600-93861000	Weak transcription	NH-A	brain
5	chr11:93855000-93860800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr11:93857800-93861000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:93858400-93861200	Weak transcription	Right Atrium	heart
8	chr11:93858800-93860200	Weak transcription	Fetal Intestine Small	intestine

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