Variant report

Variant	rs17115681
Chromosome Location	chr14:45365009-45365010
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	JUND	chr14:45364915-45365383	SK-N-SH	brain:	n/a	chr14:45365294-45365306
2	CEBPB	chr14:45364951-45365320	IMR90	lung:	n/a	n/a
3	FOS	chr14:45364978-45365228	MCF10A-Er-Src	breast:	n/a	n/a
4	FOSL2	chr14:45364958-45365411	SK-N-SH	brain:	n/a	chr14:45365294-45365306

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:45362182..45365110-chr19:13049447..13051333,2	MCF-7	breast:
2	chr14:45364937..45368444-chr14:45721075..45725396,9	MCF-7	breast:

Variant related genes	Relation type
C14orf28	TF binding region
ENSG00000129534	Chromatin interaction
ENSG00000179218	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11846891	1.00[CEU][hapmap]
rs11847071	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[TSI][hapmap]
rs11847933	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11851764	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17115679	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17115680	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs45550535	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56988712	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57494105	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58152153	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58557583	1.00[EUR][1000 genomes]
rs59698927	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60595870	0.83[AFR][1000 genomes]
rs60713065	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6572288	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs73347154	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73347158	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73347179	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73347182	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73347199	1.00[EUR][1000 genomes]
rs73348920	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73348927	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73348928	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869289	chr14:44752382-45447415	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv901832	chr14:44847444-45415597	Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv995092	chr14:44973489-45393462	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
4	nsv1047886	chr14:45189653-45543182	Strong transcription Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv542079	chr14:45189653-45543182	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv901841	chr14:45198196-45719643	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh 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	66 gene(s)	inside rSNPs	diseases
7	nsv1053437	chr14:45232269-45424222	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	esv1795667	chr14:45361680-45721052	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45359400-45365800	Weak transcription	Fetal Kidney	kidney
2	chr14:45359800-45365600	Weak transcription	Fetal Heart	heart
3	chr14:45360000-45365600	Weak transcription	Duodenum Mucosa	Duodenum
4	chr14:45360400-45365800	Weak transcription	Fetal Lung	lung
5	chr14:45361400-45365600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr14:45364600-45365200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr14:45364600-45365400	Enhancers	NHDF-Ad	bronchial
8	chr14:45364600-45366200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr14:45364800-45365400	Enhancers	NH-A	brain
10	chr14:45364800-45365400	Enhancers	Osteobl	bone
11	chr14:45365000-45365200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr14:45365000-45365200	Enhancers	HepG2	liver
13	chr14:45365000-45365800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr14:45365000-45365800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr14:45365000-45365800	Enhancers	HMEC	breast
16	chr14:45365000-45368800	Active TSS	Stomach Smooth Muscle	stomach

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