Variant report

Variant	rs12516655
Chromosome Location	chr5:117784597-117784598
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12513603	1.00[ASN][1000 genomes]
rs12514288	1.00[ASN][1000 genomes]
rs12515772	1.00[ASN][1000 genomes]
rs12515952	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12518663	1.00[ASN][1000 genomes]
rs12518766	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12522494	0.98[ASN][1000 genomes]
rs12522602	0.91[ASN][1000 genomes]
rs4131760	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4131761	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6595130	0.98[ASN][1000 genomes]
rs6595131	0.98[ASN][1000 genomes]
rs6595132	0.98[ASN][1000 genomes]
rs6595133	1.00[ASN][1000 genomes]
rs6878216	0.98[ASN][1000 genomes]
rs6878391	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6878509	0.96[ASN][1000 genomes]
rs72793511	1.00[ASN][1000 genomes]
rs72793514	1.00[ASN][1000 genomes]
rs72793518	1.00[ASN][1000 genomes]
rs72793577	1.00[ASN][1000 genomes]
rs72793579	0.96[ASN][1000 genomes]
rs72793582	0.96[ASN][1000 genomes]
rs72793584	0.93[ASN][1000 genomes]
rs72793590	0.91[ASN][1000 genomes]
rs7442876	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7729729	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027428	chr5:117072745-118036353	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv537877	chr5:117072745-118036353	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1067621	chr5:117102544-118036352	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv531292	chr5:117102544-118036352	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	esv2422395	chr5:117442806-117887910	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv432802	chr5:117612408-117921244	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	esv2758013	chr5:117664725-117942247	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	esv2759373	chr5:117664725-117942247	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv462422	chr5:117740545-118020706	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	nsv599529	chr5:117740545-118020706	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	nsv599530	chr5:117748700-117870746	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv599531	chr5:117754697-117870746	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv599532	chr5:117770863-117831913	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv599533	chr5:117770863-117870746	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	esv2760967	chr5:117778941-117809332	Enhancers Weak transcription Flanking Active TSS	lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv599534	chr5:117780062-117870746	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
17	nsv427731	chr5:117781143-118023504	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:117779000-117786200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:117779400-117785400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:117781400-117785400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr5:117781800-117785200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr5:117782000-117785000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr5:117782200-117785200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr5:117782200-117785400	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr5:117782200-117785600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr5:117782400-117785000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr5:117782400-117785000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr5:117782600-117785200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr5:117783600-117807000	Weak transcription	Left Ventricle	heart

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