Variant report

Variant	rs12719001
Chromosome Location	chr7:56606645-56606646
allele	A/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	ZNF143	chr7:56606225-56606645	GM12878	blood:	n/a	n/a
2	SIN3A	chr7:56606334-56606692	H1-hESC	embryonic stem cell:	n/a	n/a
3	REST	chr7:56606631-56606836	SK-N-SH	brain:	n/a	chr7:56606730-56606750 chr7:56606730-56606737 chr7:56606731-56606749 chr7:56606736-56606750 chr7:56606730-56606750 chr7:56606730-56606750
4	BRCA1	chr7:56606505-56606701	GM12878	blood:	n/a	n/a
5	TBL1XR1	chr7:56606503-56606702	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000233288	TF binding region

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10227533	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10235554	1.00[ASN][1000 genomes]
rs10237260	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10249720	1.00[CEU][hapmap]
rs10254119	1.00[ASN][1000 genomes]
rs10267521	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10268081	1.00[ASN][1000 genomes]
rs10277759	1.00[ASN][1000 genomes]
rs12216692	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12691394	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13222842	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13225892	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13242360	1.00[AFR][1000 genomes]
rs13243690	1.00[AFR][1000 genomes]
rs28565075	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34057393	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34182096	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34948923	1.00[AFR][1000 genomes]
rs35197541	1.00[ASN][1000 genomes]
rs35731875	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35856805	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57564696	1.00[ASN][1000 genomes]
rs60032740	1.00[ASN][1000 genomes]
rs68153262	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68157893	1.00[ASN][1000 genomes]
rs6948200	1.00[CEU][hapmap]
rs71549102	1.00[ASN][1000 genomes]
rs71550919	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71550920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73349476	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526294	chr7:56171489-56622630	Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv1016771	chr7:56174828-56643856	Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv538862	chr7:56174828-56643856	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv1033163	chr7:56307057-56677865	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv538863	chr7:56307057-56677865	ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
6	nsv427783	chr7:56334626-56983646	Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
7	nsv1022563	chr7:56383876-57318888	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	54 gene(s)	inside rSNPs	diseases
8	nsv1016255	chr7:56453095-56835595	ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	nsv888066	chr7:56466740-56693762	ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv1028678	chr7:56511649-56795206	ZNF genes & repeats Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	nsv538864	chr7:56511649-56795206	ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
12	nsv1020833	chr7:56511848-57323499	ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
13	nsv538865	chr7:56511848-57323499	ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
14	nsv8090	chr7:56511877-56772523	ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
15	nsv1017561	chr7:56512618-57334136	Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
16	esv3432	chr7:56561673-56611316	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	nsv831009	chr7:56566629-56754313	ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56604800-56607000	ZNF genes & repeats	Pancreas	Pancrea
2	chr7:56604800-56609600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:56605000-56606800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
4	chr7:56605000-56611400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:56605200-56606800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
6	chr7:56605200-56606800	Active TSS	Stomach Smooth Muscle	stomach
7	chr7:56605200-56607200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
8	chr7:56605200-56612600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
9	chr7:56605400-56606800	ZNF genes & repeats	Adipose Nuclei	Adipose
10	chr7:56605600-56607000	ZNF genes & repeats	Lung	lung
11	chr7:56605600-56608000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr7:56605600-56610600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:56606200-56606800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
14	chr7:56606200-56606800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:56606200-56609200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
16	chr7:56606400-56606800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
17	chr7:56606400-56606800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr7:56606400-56606800	ZNF genes & repeats	Fetal Muscle Trunk	muscle
19	chr7:56606600-56606800	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr7:56606600-56606800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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