Variant report

Variant	rs2744917
Chromosome Location	chr1:71483627-71483628
allele	G/T
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:22)

rs_ID	r²[population]
rs17090676	1.00[AMR][1000 genomes]
rs2639342	1.00[AMR][1000 genomes]
rs2744910	1.00[AMR][1000 genomes]
rs2744912	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2744913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2796191	1.00[AMR][1000 genomes]
rs2796193	1.00[AMR][1000 genomes]
rs2796194	1.00[AMR][1000 genomes]
rs2796205	1.00[AMR][1000 genomes]
rs2817856	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2817859	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2817861	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2817862	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2817863	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4146734	1.00[AMR][1000 genomes]
rs5689	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6424416	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6424417	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6661368	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6667630	1.00[AMR][1000 genomes]
rs7539573	1.00[AMR][1000 genomes]
rs9425056	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1845198	chr1:71274759-71514969	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv830148	chr1:71310366-71483932	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv871313	chr1:71391646-71489438	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1008902	chr1:71417926-71488139	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv534989	chr1:71417926-71488139	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv546472	chr1:71432984-71541003	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	555 gene(s)	inside rSNPs	diseases
7	nsv461851	chr1:71442626-71507541	Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
8	nsv546473	chr1:71442626-71507541	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
9	esv1850593	chr1:71444149-71514969	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv870843	chr1:71465292-71489438	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
11	nsv870734	chr1:71469583-71485036	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
12	nsv870576	chr1:71469583-71489438	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
13	nsv871812	chr1:71481050-71489438	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
14	nsv871242	chr1:71481050-71519326	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71465800-71485000	Weak transcription	Pancreas	Pancrea
2	chr1:71480600-71484400	Weak transcription	Fetal Heart	heart
3	chr1:71481800-71501000	Weak transcription	K562	blood
4	chr1:71482600-71483800	Enhancers	Aorta	Aorta
5	chr1:71482800-71484000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:71483000-71483800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:71483000-71483800	Enhancers	Placenta	Placenta
8	chr1:71483200-71484000	Enhancers	Adipose Nuclei	Adipose
9	chr1:71483400-71483800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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