Variant report

Variant	rs1686329
Chromosome Location	chr1:79339033-79339034
allele	A/C/G/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:21)

rs_ID	r²[population]
rs1021322	1.00[AMR][1000 genomes]
rs10747359	1.00[AMR][1000 genomes]
rs1117463	1.00[AMR][1000 genomes]
rs12094808	0.81[AFR][1000 genomes]
rs1352553	1.00[AMR][1000 genomes]
rs1472013	1.00[AMR][1000 genomes]
rs1489385	1.00[AMR][1000 genomes]
rs1489389	1.00[AMR][1000 genomes]
rs1489390	1.00[AMR][1000 genomes]
rs1489399	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs1780774	1.00[AMR][1000 genomes]
rs2035723	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2130196	1.00[AMR][1000 genomes]
rs2130197	1.00[AMR][1000 genomes]
rs2882992	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs2996692	0.89[AFR][1000 genomes]
rs6424617	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6665993	1.00[AMR][1000 genomes]
rs6701533	1.00[AMR][1000 genomes]
rs7532041	1.00[AMR][1000 genomes]
rs9970416	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871835	chr1:78528803-79501129	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv491784	chr1:79146141-79853482	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv526221	chr1:79197624-79487080	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv817535	chr1:79203834-79473089	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv999624	chr1:79230028-79448222	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv535013	chr1:79230028-79448222	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv546619	chr1:79233493-79614989	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1003295	chr1:79303750-79344930	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv2830430	chr1:79310760-79555593	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv998900	chr1:79319633-79346059	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
11	nsv1010441	chr1:79320299-79555315	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv871700	chr1:79325216-79350364	Enhancers Weak transcription ZNF genes & repeats	lncRNA	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	chr1:79338200-79339200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:79338200-79339200	Enhancers	Muscle Satellite Cultured Cells	--
3	chr1:79338200-79339200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:79338800-79339200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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