Variant report

Variant	rs1482192
Chromosome Location	chr8:3412135-3412136
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10081482	0.92[EUR][1000 genomes]
rs10087794	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10095714	0.83[EUR][1000 genomes]
rs10100507	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10100847	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10100964	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10100985	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10101348	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12056919	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12691303	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12716596	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13248762	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13257973	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13328366	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13328375	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6558792	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6558793	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7004293	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7844793	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][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	nsv1025209	chr8:3067655-3754882	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1026998	chr8:3102679-3593264	Weak transcription Enhancers Strong transcription 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	4 gene(s)	inside rSNPs	diseases
3	nsv1034076	chr8:3168033-3989947	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv539351	chr8:3168033-3989947	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1017164	chr8:3174168-4026811	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv539352	chr8:3174168-4026811	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1018218	chr8:3180287-4089011	Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1034838	chr8:3307014-3413573	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv1028926	chr8:3318340-3667389	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	nsv539353	chr8:3318340-3667389	Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
11	nsv427813	chr8:3339350-3501515	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv465345	chr8:3392200-3423848	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv609738	chr8:3392200-3423848	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv889899	chr8:3394470-3423848	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv1032514	chr8:3396338-3423073	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
16	nsv1024323	chr8:3401210-3423073	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
17	esv14984	chr8:3411237-3412987	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3411600-3412800	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr8:3411600-3412800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:3411600-3413000	Enhancers	Liver	Liver
4	chr8:3411800-3412200	Enhancers	Lung	lung
5	chr8:3411800-3412400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:3411800-3412800	Enhancers	Fetal Heart	heart
7	chr8:3412000-3412200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr8:3412000-3412400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr8:3412000-3412600	Enhancers	H1 Cell Line	embryonic stem cell
10	chr8:3412000-3412600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:3412000-3412800	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr8:3412000-3412800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr8:3412000-3413000	Enhancers	H9 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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