Variant report

Variant	rs11930756
Chromosome Location	chr4:122690701-122690702
allele	G/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	TBL1XR1	chr4:122690634-122690804	K562	blood:	n/a	n/a
2	GATA3	chr4:122690583-122690897	T-47D	breast:	n/a	n/a
3	GATA3	chr4:122690573-122690837	T-47D	breast:	n/a	n/a

Variant related genes	Relation type
TMEM155	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11930245	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11933339	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11934168	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11942369	1.00[EUR][1000 genomes]
rs17005269	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17005276	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3217770	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4132552	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61639241	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6845842	1.00[EUR][1000 genomes]
rs72915930	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72915936	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72915942	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72915943	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72915957	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72915958	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72917987	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72917996	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72918000	1.00[EUR][1000 genomes]
rs72919903	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72919909	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs769235	0.88[AFR][1000 genomes];1.00[EUR][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	nsv817261	chr4:122085173-123020068	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv997539	chr4:122544104-123274266	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv530157	chr4:122557302-123248756	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv461635	chr4:122633535-122720999	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv595357	chr4:122633535-122720999	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122687600-122695200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr4:122689400-122695400	Weak transcription	Fetal Heart	heart

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