Variant report

Variant	rs17148332
Chromosome Location	chr11:85377707-85377708
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr11:85377640-85378149	HepG2	liver:	n/a	n/a
2	ZEB1	chr11:85377632-85378136	HepG2	liver:	n/a	chr11:85377826-85377833
3	FOXA1	chr11:85377557-85378084	HepG2	liver:	n/a	n/a
4	FOXA2	chr11:85377588-85378092	HepG2	liver:	n/a	n/a
5	HNF4A	chr11:85377707-85378064	HepG2	liver:	n/a	n/a
6	POLR2A	chr11:85377591-85377983	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:85373551..85376887-chr11:85377014..85379944,4	K562	blood:
2	chr11:85375518..85379282-chr11:85955454..85957196,3	K562	blood:
3	chr11:85337740..85341959-chr11:85373645..85377756,6	MCF-7	breast:
4	chr11:85375414..85378030-chr11:85406861..85408546,2	MCF-7	breast:
5	chr11:85374551..85377717-chr11:85388541..85395552,6	MCF-7	breast:

No data

Variant related genes	Relation type
CREBZF	TF binding region
ENSG00000137504	Chromatin interaction
ENSG00000171204	Chromatin interaction
ENSG00000150672	Chromatin interaction
ENSG00000137501	Chromatin interaction
ENSG00000074266	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12099145	1.00[MEX][hapmap]
rs12099352	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17148267	0.95[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap]
rs17148301	0.86[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap]
rs17148316	1.00[MEX][hapmap]
rs17148370	1.00[ASW][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.94[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17148398	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs17148484	1.00[AMR][1000 genomes]
rs3168151	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4570600	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55951903	1.00[AMR][1000 genomes]
rs6592249	1.00[AMR][1000 genomes]
rs6592257	1.00[MEX][hapmap]
rs6592261	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs7108539	1.00[AMR][1000 genomes]
rs7116307	0.86[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap]
rs73502601	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73518849	1.00[AMR][1000 genomes]
rs7931532	1.00[AMR][1000 genomes]
rs7946536	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][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	nsv1051155	chr11:85006564-85721261	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv541110	chr11:85006564-85721261	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv898047	chr11:85180409-85377707	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	esv2758279	chr11:85180480-85603988	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	esv2759845	chr11:85180480-85603988	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
6	nsv898048	chr11:85206156-85404138	Flanking Active TSS Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17148332	IFT46	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85376200-85384000	Weak transcription	Small Intestine	intestine
2	chr11:85376600-85380200	Weak transcription	Right Atrium	heart
3	chr11:85376800-85377800	Enhancers	A549	lung
4	chr11:85376800-85378200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr11:85377000-85381800	Weak transcription	Liver	Liver
6	chr11:85377000-85382200	Weak transcription	Fetal Intestine Large	intestine
7	chr11:85377000-85383800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:85377200-85378000	Enhancers	HepG2	liver
9	chr11:85377200-85382000	Weak transcription	Rectal Mucosa Donor 31	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links