Variant report

Variant	rs17126791
Chromosome Location	chr1:85854370-85854371
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10489509	1.00[AMR][1000 genomes]
rs10489512	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10873699	1.00[AMR][1000 genomes]
rs11161596	1.00[AMR][1000 genomes]
rs11799987	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11802126	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11805144	1.00[AMR][1000 genomes]
rs11805470	1.00[AMR][1000 genomes]
rs11806483	1.00[AMR][1000 genomes]
rs11807361	0.89[AFR][1000 genomes]
rs11809053	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11811186	1.00[AMR][1000 genomes]
rs12059670	1.00[AMR][1000 genomes]
rs12071648	1.00[AMR][1000 genomes]
rs12082194	1.00[AMR][1000 genomes]
rs17126044	1.00[AMR][1000 genomes]
rs182845	1.00[AMR][1000 genomes]
rs20862	1.00[AMR][1000 genomes]
rs233063	1.00[AMR][1000 genomes]
rs233064	1.00[AMR][1000 genomes]
rs233122	1.00[AMR][1000 genomes]
rs233126	1.00[AMR][1000 genomes]
rs233129	1.00[AMR][1000 genomes]
rs2474121	1.00[AMR][1000 genomes]
rs41438644	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4399206	1.00[AMR][1000 genomes]
rs57053091	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57527592	1.00[AMR][1000 genomes]
rs57769466	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60176254	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60202981	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61473029	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv830470	chr1:85820775-86014080	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1008877	chr1:85843238-85897570	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85839800-85864200	Weak transcription	Aorta	Aorta
2	chr1:85841200-85859800	Weak transcription	NH-A	brain
3	chr1:85845000-85870000	Weak transcription	HSMMtube	muscle
4	chr1:85845800-85859800	Weak transcription	NHLF	lung
5	chr1:85849400-85861600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr1:85849400-85863400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:85850200-85854400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:85850800-85863600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:85851600-85854600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:85852400-85863400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:85852400-85864200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:85852600-85860000	Weak transcription	Gastric	stomach
13	chr1:85852800-85858800	Weak transcription	HSMM	muscle
14	chr1:85852800-85859800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:85853200-85861800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:85853400-85854400	Weak transcription	HepG2	liver
17	chr1:85853600-85861800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:85853800-85854800	Enhancers	Fetal Lung	lung
19	chr1:85853800-85858800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:85853800-85861600	Weak transcription	NHDF-Ad	bronchial
21	chr1:85853800-85864200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:85854000-85854600	Enhancers	Liver	Liver
23	chr1:85854000-85861800	Weak transcription	Osteobl	bone
24	chr1:85854200-85854600	Genic enhancers	HUVEC	blood vessel

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