Variant report

Variant	rs13146881
Chromosome Location	chr4:122296366-122296367
allele	C/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	FOSL1	chr4:122296354-122296916	HCT-116	colon:	n/a	chr4:122296646-122296655 chr4:122296646-122296653 chr4:122296645-122296654 chr4:122296646-122296654 chr4:122296821-122296832 chr4:122296647-122296658
2	TCF7L2	chr4:122296015-122296870	HCT-116	colon:	n/a	chr4:122296645-122296654
3	MYC	chr4:122296347-122296867	MCF10A-Er-Src	breast:	n/a	chr4:122296645-122296654 chr4:122296856-122296865
4	CEBPB	chr4:122296277-122296972	HCT-116	colon:	n/a	n/a
5	JUND	chr4:122296265-122296837	HCT-116	colon:	n/a	chr4:122296646-122296655 chr4:122296646-122296653 chr4:122296645-122296654 chr4:122296644-122296655 chr4:122296646-122296654 chr4:122296821-122296832 chr4:122296647-122296658
6	FOSL1	chr4:122296262-122296913	HCT-116	colon:	n/a	chr4:122296646-122296655 chr4:122296646-122296653 chr4:122296645-122296654 chr4:122296646-122296654 chr4:122296821-122296832 chr4:122296647-122296658
7	CEBPB	chr4:122296251-122296905	HCT-116	colon:	n/a	n/a
8	SP1	chr4:122296340-122296903	HCT-116	colon:	n/a	n/a

Variant related genes	Relation type
ENSG00000213480	TF binding region

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11729700	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11732033	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13119176	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13120526	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13120639	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13139657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13140392	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1398908	1.00[JPT][hapmap]
rs17371707	1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs17371804	1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs17372496	0.85[JPT][hapmap]
rs17437630	1.00[JPT][hapmap]
rs17438865	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17438900	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17439459	0.95[ASN][1000 genomes]
rs1828725	0.95[ASN][1000 genomes]
rs2063682	0.95[ASN][1000 genomes]
rs34480116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34662155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34821968	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35097879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35100097	0.83[EUR][1000 genomes]
rs35292409	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35469175	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35623795	0.83[EUR][1000 genomes]
rs35738071	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35870436	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35964783	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6842600	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs71602333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71602335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7678003	0.89[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7688947	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7696277	0.84[EUR][1000 genomes]
rs964305	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998094	chr4:121504565-122374203	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1009395	chr4:121841442-122557363	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv537235	chr4:121841442-122557363	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv879859	chr4:121892490-122438312	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	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
6	nsv508308	chr4:122278897-122312719	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1003477	chr4:122281973-122297539	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1001654	chr4:122282456-122297539	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1012376	chr4:122282456-122299460	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv10560	chr4:122293497-122297590	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122294800-122298800	Enhancers	NHEK	skin
2	chr4:122295200-122297600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr4:122295200-122299000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr4:122295400-122297600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:122295600-122299400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:122295800-122297000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:122295800-122297600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr4:122296000-122296400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:122296000-122296600	Enhancers	Right Ventricle	heart
10	chr4:122296200-122296400	Enhancers	Fetal Intestine Large	intestine
11	chr4:122296200-122296400	Enhancers	HMEC	breast
12	chr4:122296200-122296400	Bivalent Enhancer	NHDF-Ad	bronchial
13	chr4:122296200-122296800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr4:122296200-122296800	Enhancers	Muscle Satellite Cultured Cells	--
15	chr4:122296200-122297200	Enhancers	Hela-S3	cervix

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