Variant report

Variant	rs11848659
Chromosome Location	chr14:47223945-47223946
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10129937	1.00[ASN][1000 genomes]
rs10132701	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10134490	1.00[ASN][1000 genomes]
rs10147543	1.00[ASN][1000 genomes]
rs10150933	1.00[ASN][1000 genomes]
rs10162317	1.00[ASN][1000 genomes]
rs10162470	1.00[ASN][1000 genomes]
rs10162586	1.00[ASN][1000 genomes]
rs10162594	1.00[ASN][1000 genomes]
rs10162595	1.00[ASN][1000 genomes]
rs10444711	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11157525	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11622854	1.00[ASN][1000 genomes]
rs11627479	1.00[ASN][1000 genomes]
rs12147083	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12147656	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13379084	1.00[ASN][1000 genomes]
rs1350935	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1381640	1.00[ASN][1000 genomes]
rs1462393	1.00[ASN][1000 genomes]
rs17674427	1.00[ASN][1000 genomes]
rs17743255	1.00[ASN][1000 genomes]
rs1954235	1.00[ASN][1000 genomes]
rs28610560	1.00[ASN][1000 genomes]
rs28710205	1.00[ASN][1000 genomes]
rs28728204	1.00[ASN][1000 genomes]
rs28805289	1.00[ASN][1000 genomes]
rs28808418	1.00[ASN][1000 genomes]
rs28883026	1.00[ASN][1000 genomes]
rs72676628	1.00[ASN][1000 genomes]
rs8014571	1.00[ASN][1000 genomes]
rs9806013	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	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
5	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
6	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
7	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
8	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
9	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
10	nsv901873	chr14:47136591-47366340	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv1045878	chr14:47150432-47227537	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv1038382	chr14:47150432-47393565	Enhancers Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv1047429	chr14:47153329-47227537	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv564754	chr14:47162140-47633066	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:47221200-47224200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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