Variant report

Variant	rs58113812
Chromosome Location	chr14:47125043-47125044
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	E2F4	chr14:47124912-47125303	MCF10A-Er-Src	breast:	n/a	n/a
2	NFYA	chr14:47124918-47125068	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
RPL10L	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10134458	1.00[EUR][1000 genomes]
rs11157518	1.00[AMR][1000 genomes]
rs1494085	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17117514	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17117518	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56025319	1.00[EUR][1000 genomes]
rs57044634	1.00[EUR][1000 genomes]
rs57167567	1.00[EUR][1000 genomes]
rs57253420	1.00[EUR][1000 genomes]
rs58252727	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58713876	1.00[AMR][1000 genomes]
rs61181705	1.00[AMR][1000 genomes]
rs73239998	1.00[AMR][1000 genomes]
rs73241705	1.00[AMR][1000 genomes]
rs73241788	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73241790	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73241800	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73244875	1.00[EUR][1000 genomes]
rs73245412	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73247028	1.00[EUR][1000 genomes]
rs73247029	1.00[EUR][1000 genomes]
rs73248930	1.00[EUR][1000 genomes]
rs73248952	1.00[EUR][1000 genomes]
rs73248955	1.00[EUR][1000 genomes]
rs73248956	1.00[EUR][1000 genomes]
rs73248958	1.00[EUR][1000 genomes]
rs73248967	1.00[EUR][1000 genomes]
rs73250850	1.00[EUR][1000 genomes]
rs73250858	1.00[EUR][1000 genomes]
rs73250859	1.00[EUR][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	esv2751278	chr14:46718250-47225891	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv901863	chr14:46797353-47247399	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv2829996	chr14:46799990-47344432	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv901870	chr14:46825242-47125523	Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1040847	chr14:46905206-47869359	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv542085	chr14:46905206-47869359	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv542086	chr14:46905406-47662394	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1049865	chr14:46905406-47869220	Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv542087	chr14:46905406-47869220	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv517764	chr14:47083005-47419867	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:47121400-47125200	Weak transcription	Fetal Intestine Small	intestine
2	chr14:47123200-47125600	Strong transcription	Rectal Mucosa Donor 29	rectum
3	chr14:47124600-47125200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:47124800-47142000	Weak transcription	Rectal Mucosa Donor 31	rectum

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