Variant report

Variant	rs470725
Chromosome Location	chr11:119997599-119997600
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr11:119997212-119997689	K562	blood:	n/a	n/a
2	TBL1XR1	chr11:119997369-119997633	K562	blood:	n/a	n/a
3	JUND	chr11:119997432-119997629	K562	blood:	n/a	n/a
4	GATA1	chr11:119997199-119997959	K562	blood:	n/a	n/a
5	GATA2	chr11:119997440-119997799	SH-SY5Y	brain:	n/a	n/a
6	CUX1	chr11:119997413-119997604	K562	blood:	n/a	n/a
7	PML	chr11:119997267-119997687	K562	blood:	n/a	n/a
8	PML	chr11:119997245-119997746	K562	blood:	n/a	n/a
9	CEBPD	chr11:119997211-119997666	K562	blood:	n/a	n/a
10	CCNT2	chr11:119997356-119997722	K562	blood:	n/a	n/a
11	TEAD4	chr11:119997142-119997831	K562	blood:	n/a	n/a
12	ATF1	chr11:119997357-119997642	K562	blood:	n/a	n/a
13	TAL1	chr11:119997266-119997739	K562	blood:	n/a	chr11:119997636-119997645
14	RCOR1	chr11:119997306-119997669	K562	blood:	n/a	n/a
15	CEBPD	chr11:119997254-119997717	K562	blood:	n/a	n/a
16	GATA1	chr11:119997240-119997902	PBDE	blood:	n/a	n/a
17	STAT5A	chr11:119997258-119997749	K562	blood:	n/a	n/a
18	EP300	chr11:119997322-119997750	K562	blood:	n/a	n/a
19	ARID3A	chr11:119997367-119997645	K562	blood:	n/a	n/a
20	GATA2	chr11:119997225-119997751	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:119990218..119993185-chr11:119994723..119998416,4	K562	blood:

No data

Variant related genes	Relation type
TRIM29	TF binding region
ENSG00000137699	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1790476	0.85[EUR][1000 genomes]
rs470373	0.83[ASN][1000 genomes]
rs470411	0.84[EUR][1000 genomes]
rs470941	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs471001	0.82[ASN][1000 genomes]
rs488672	0.80[EUR][1000 genomes]
rs531260	0.80[EUR][1000 genomes]
rs550164	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs561498	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs605374	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs670855	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1050132	chr11:119976310-120010437	Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs470725	TRIM29	cis	Artery Tibial	GTEx

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119991200-119999000	Genic enhancers	HMEC	breast
2	chr11:119993400-119998800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr11:119993400-119998800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr11:119993400-119999800	Weak transcription	Fetal Thymus	thymus
5	chr11:119993400-120000000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:119993800-120001800	Weak transcription	Pancreas	Pancrea
7	chr11:119994200-119997600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr11:119994400-119998800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr11:119994600-119998600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr11:119994600-119998800	Weak transcription	Fetal Intestine Large	intestine
11	chr11:119995200-120000200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:119996000-119998800	Weak transcription	Stomach Mucosa	stomach
13	chr11:119996200-119998400	Strong transcription	NHEK	skin
14	chr11:119996200-119998800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr11:119996200-119998800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr11:119996200-119999000	Enhancers	Hela-S3	cervix
17	chr11:119996800-119997800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr11:119996800-119998000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr11:119996800-119998000	Strong transcription	Esophagus	oesophagus
20	chr11:119996800-119998400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr11:119997000-119998600	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr11:119997200-119998000	Strong transcription	Placenta	Placenta
23	chr11:119997400-119998200	Enhancers	K562	blood

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