Variant report

Variant	rs28369794
Chromosome Location	chr1:171154303-171154304
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12691471	0.92[ASN][1000 genomes]
rs12691472	0.89[ASN][1000 genomes]
rs12730113	0.89[ASN][1000 genomes]
rs12752688	1.00[ASN][1000 genomes]
rs13376335	0.89[ASN][1000 genomes]
rs1883166	0.89[ASN][1000 genomes]
rs2307492	0.89[ASN][1000 genomes]
rs28369829	0.89[ASN][1000 genomes]
rs28369833	0.89[ASN][1000 genomes]
rs28369864	0.89[ASN][1000 genomes]
rs28369870	0.89[ASN][1000 genomes]
rs28369882	0.89[ASN][1000 genomes]
rs34425609	0.92[ASN][1000 genomes]
rs35092378	1.00[ASN][1000 genomes]
rs35473668	1.00[ASN][1000 genomes]
rs35627685	1.00[ASN][1000 genomes]
rs3754493	1.00[ASN][1000 genomes]
rs4916183	0.89[ASN][1000 genomes]
rs4916243	0.89[ASN][1000 genomes]
rs4916414	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4916415	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56726407	0.92[ASN][1000 genomes]
rs6660641	0.89[ASN][1000 genomes]
rs6678123	1.00[ASN][1000 genomes]
rs66893691	0.92[ASN][1000 genomes]
rs6697122	1.00[ASN][1000 genomes]
rs67794719	0.82[ASN][1000 genomes]
rs73028690	0.92[ASN][1000 genomes]
rs7516877	0.89[ASN][1000 genomes]
rs7545752	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7548111	1.00[ASN][1000 genomes]
rs7886546	0.92[ASN][1000 genomes]
rs7890067	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001228	chr1:170885787-171452579	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1005902	chr1:171036690-171254916	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv535203	chr1:171036690-171254916	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	esv10193	chr1:171128845-171414611	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs28369794	RP1-127D3.4	cis	Artery Tibial	GTEx

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171153400-171159000	Active TSS	Aorta	Aorta
2	chr1:171153600-171155000	Enhancers	Fetal Stomach	stomach
3	chr1:171153800-171154800	Enhancers	Brain Germinal Matrix	brain
4	chr1:171154000-171154600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:171154000-171159600	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr1:171154200-171154600	Enhancers	Osteobl	bone
7	chr1:171154200-171154800	Active TSS	Brain Anterior Caudate	brain
8	chr1:171154200-171155000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:171154200-171155000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr1:171154200-171155200	Flanking Active TSS	Fetal Lung	lung
11	chr1:171154200-171156600	Active TSS	Stomach Smooth Muscle	stomach
12	chr1:171154200-171156600	Active TSS	NHLF	lung
13	chr1:171154200-171157400	Active TSS	Adipose Nuclei	Adipose
14	chr1:171154200-171158800	Active TSS	Psoas Muscle	Psoas
15	chr1:171154200-171159000	Active TSS	Left Ventricle	heart
16	chr1:171154200-171160800	Active TSS	Right Atrium	heart

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