Variant report

Variant	rs12514216
Chromosome Location	chr5:17085100-17085101
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10050750	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12109054	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12519524	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12520008	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12521131	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs13189103	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2086607	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2101149	0.83[ASN][1000 genomes]
rs2128311	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2128312	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2170526	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs28412452	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs34398449	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs34738571	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs35725865	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4702194	0.83[ASN][1000 genomes]
rs6554967	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6863571	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6872871	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6874789	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6889105	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6896287	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025225	chr5:16714512-17234866	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1015247	chr5:16748966-17133274	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv880277	chr5:16829442-17316288	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	esv3510797	chr5:16966764-17125849	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv3510798	chr5:16966764-17125849	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1017222	chr5:17001819-17133274	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1021972	chr5:17011758-17091878	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1026025	chr5:17039665-17195440	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1027435	chr5:17068441-17095350	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	nsv969212	chr5:17070735-17098476	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv327670	chr5:17078843-17085787	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17081400-17086800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr5:17082200-17087200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:17082200-17090000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:17085000-17090000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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