Variant report

Variant	rs17118216
Chromosome Location	chr14:47694161-47694162
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10483578	0.88[ASN][1000 genomes]
rs10483579	0.88[ASN][1000 genomes]
rs10484193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12433937	0.88[ASN][1000 genomes]
rs1571104	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17118145	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17118150	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17118178	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17118182	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17118191	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17118197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17118222	0.94[ASN][1000 genomes]
rs17118298	0.88[ASN][1000 genomes]
rs17653818	0.94[ASN][1000 genomes]
rs17670956	0.94[ASN][1000 genomes]
rs17671662	0.88[ASN][1000 genomes]
rs17671826	0.88[ASN][1000 genomes]
rs17671953	0.88[ASN][1000 genomes]
rs17672024	0.88[ASN][1000 genomes]
rs17739532	0.88[ASN][1000 genomes]
rs17739605	0.88[ASN][1000 genomes]
rs17739629	0.88[ASN][1000 genomes]
rs17739979	0.88[ASN][1000 genomes]
rs2899997	0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36117017	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55682943	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55928353	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56159600	0.84[ASN][1000 genomes]
rs6572410	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6572411	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7142595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7151248	0.88[ASN][1000 genomes]
rs7152122	0.88[ASN][1000 genomes]
rs7152633	0.88[ASN][1000 genomes]
rs7160311	1.00[JPT][hapmap]
rs72680230	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72680232	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72680241	0.94[ASN][1000 genomes]
rs72680244	0.91[ASN][1000 genomes]
rs72680246	0.91[ASN][1000 genomes]
rs72680257	0.94[ASN][1000 genomes]
rs72680268	0.94[ASN][1000 genomes]
rs72680273	0.94[ASN][1000 genomes]
rs72680274	0.94[ASN][1000 genomes]
rs72680276	0.94[ASN][1000 genomes]
rs72680278	0.94[ASN][1000 genomes]
rs72680280	0.94[ASN][1000 genomes]
rs72680281	0.94[ASN][1000 genomes]
rs72682175	0.88[ASN][1000 genomes]
rs72682176	0.88[ASN][1000 genomes]
rs72682179	0.85[ASN][1000 genomes]
rs72682197	0.88[ASN][1000 genomes]
rs72683805	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv1048316	chr14:47297113-47885723	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv901889	chr14:47594099-47694161	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv901890	chr14:47594099-47729711	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv901891	chr14:47620548-47708397	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv901892	chr14:47620548-47729711	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1046326	chr14:47629646-47845903	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv901893	chr14:47633066-47715509	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv456302	chr14:47650921-47715621	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv564772	chr14:47650921-47715621	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:47690000-47695200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr14:47692400-47695000	Weak transcription	Primary hematopoietic stem cells	blood

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