Variant report

Variant	rs3007054
Chromosome Location	chr14:47041458-47041459
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs12888967	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1381636	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1462384	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1564065	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1870885	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs189658	1.00[AMR][1000 genomes]
rs2600803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2600806	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2600807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2600822	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2600823	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2642071	1.00[AMR][1000 genomes]
rs2642073	1.00[AMR][1000 genomes]
rs2642082	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2642087	1.00[AMR][1000 genomes]
rs2817525	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2817531	1.00[AMR][1000 genomes]
rs2817534	1.00[AMR][1000 genomes]
rs2817535	1.00[AMR][1000 genomes]
rs2924075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2924092	1.00[AMR][1000 genomes]
rs2924093	1.00[AMR][1000 genomes]
rs2924094	1.00[AMR][1000 genomes]
rs2934581	1.00[AMR][1000 genomes]
rs2934582	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2934584	1.00[AMR][1000 genomes]
rs2934590	1.00[AMR][1000 genomes]
rs2934594	1.00[AMR][1000 genomes]
rs3007043	1.00[AMR][1000 genomes]
rs3007052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3007056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs360171	1.00[AMR][1000 genomes]
rs360173	1.00[AMR][1000 genomes]
rs360174	1.00[AMR][1000 genomes]
rs360176	1.00[AMR][1000 genomes]
rs360187	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs420472	1.00[AMR][1000 genomes]
rs421932	1.00[AMR][1000 genomes]
rs4313729	1.00[AMR][1000 genomes]
rs4372604	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs443130	1.00[AMR][1000 genomes]
rs4900708	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57608962	1.00[AMR][1000 genomes]
rs6572387	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73239909	1.00[AMR][1000 genomes]
rs73239914	1.00[AMR][1000 genomes]
rs73239919	1.00[AMR][1000 genomes]
rs73244199	1.00[AMR][1000 genomes]
rs73245807	1.00[AMR][1000 genomes]
rs73245843	1.00[AMR][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	nsv901862	chr14:46797353-47083005	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:47039000-47055000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr14:47040400-47041800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr14:47040600-47043600	Enhancers	HUVEC	blood vessel
4	chr14:47041200-47042600	Weak transcription	A549	lung
5	chr14:47041200-47042600	Weak transcription	NH-A	brain

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