Variant report

Variant	rs1724725
Chromosome Location	chr3:157902396-157902397
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:157889742..157892494-chr3:157900682..157903082,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs1095625	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1095631	0.85[CEU][hapmap];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1095632	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1103981	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1193519	1.00[ASN][1000 genomes]
rs1520657	0.85[CEU][hapmap];1.00[ASN][1000 genomes]
rs1520662	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1520666	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1589522	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1608099	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1724650	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1730038	0.82[CEU][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4680416	0.82[CEU][hapmap];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6441191	1.00[ASN][1000 genomes]
rs6779266	0.82[CEU][hapmap];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6788695	0.85[CEU][hapmap];1.00[ASN][1000 genomes]
rs6804180	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs698978	0.85[CEU][hapmap];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7651712	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs827103	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs827105	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs827107	1.00[ASN][1000 genomes]
rs827115	0.85[CEU][hapmap];1.00[ASN][1000 genomes]
rs827116	0.85[CEU][hapmap];1.00[ASN][1000 genomes]
rs827117	0.82[CEU][hapmap];1.00[ASN][1000 genomes]
rs827119	1.00[ASN][1000 genomes]
rs827133	1.00[ASN][1000 genomes]
rs827138	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs827152	0.85[CEU][hapmap];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs827182	0.82[CEU][hapmap];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs827183	0.85[CEU][hapmap];1.00[ASN][1000 genomes]
rs827189	0.85[CEU][hapmap];1.00[ASN][1000 genomes]
rs9845600	0.95[AMR][1000 genomes];1.00[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	nsv1013391	chr3:157505943-158115553	Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv536775	chr3:157505943-158115553	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1002378	chr3:157715428-158673414	Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv829768	chr3:157832878-158012070	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv877689	chr3:157858930-158133307	Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1724725	RSRC1	cis	lesional skin	skin_eQTL
rs1724725	RSRC1	cis	normal skin	skin_eQTL
rs1724725	RSRC1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:157854600-157911800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr3:157868200-157916200	Weak transcription	Primary B cells from cord blood	blood
3	chr3:157887000-157916400	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr3:157887200-157902600	Weak transcription	Gastric	stomach
5	chr3:157889800-157918600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:157902000-157902400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr3:157902000-157902600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr3:157902000-157902600	Enhancers	NHDF-Ad	bronchial
9	chr3:157902200-157902400	Enhancers	Adipose Nuclei	Adipose
10	chr3:157902200-157903000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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