Variant report

Variant	rs426221
Chromosome Location	chr15:93200397-93200398
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:93188112..93190385-chr15:93199041..93201879,2	K562	blood:
2	chr15:93199083..93200722-chr17:17739000..17741179,2	MCF-7	breast:
3	chr15:93197891..93200562-chr3:14219402..14221003,2	MCF-7	breast:
4	chr15:93187167..93190385-chr15:93197959..93201879,3	K562	blood:

Variant related genes	Relation type
ENSG00000185442	Chromatin interaction
ENSG00000072310	Chromatin interaction
ENSG00000154767	Chromatin interaction
ENSG00000170860	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12593636	1.00[ASN][1000 genomes]
rs16947098	1.00[ASN][1000 genomes]
rs16947102	1.00[ASN][1000 genomes]
rs2254142	1.00[ASN][1000 genomes]
rs285754	1.00[ASN][1000 genomes]
rs285755	1.00[ASN][1000 genomes]
rs285757	1.00[ASN][1000 genomes]
rs285758	1.00[ASN][1000 genomes]
rs285772	1.00[ASN][1000 genomes]
rs366789	1.00[ASN][1000 genomes]
rs375744	0.84[AFR][1000 genomes]
rs426191	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs444954	0.98[AFR][1000 genomes]
rs451268	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs501381	0.88[AFR][1000 genomes]
rs72758232	1.00[ASN][1000 genomes]
rs72758234	1.00[ASN][1000 genomes]
rs72758301	1.00[ASN][1000 genomes]
rs73454725	1.00[ASN][1000 genomes]
rs73454730	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	nsv1037972	chr15:92804908-93270761	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv904499	chr15:92914795-93472582	Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	163 gene(s)	inside rSNPs	diseases
3	nsv948738	chr15:93070742-93728147	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
4	nsv1049490	chr15:93134405-93591660	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS 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	151 gene(s)	inside rSNPs	diseases
5	nsv1040501	chr15:93177153-93286393	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs426221	C15orf58	cis	parietal	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:93199200-93200600	Enhancers	Gastric	stomach
2	chr15:93199200-93201000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr15:93199600-93200400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr15:93199600-93200600	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr15:93199600-93202400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr15:93199600-93210000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr15:93200000-93200400	Bivalent Enhancer	Placenta	Placenta
8	chr15:93200000-93200400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
9	chr15:93200000-93207600	Weak transcription	Stomach Mucosa	stomach
10	chr15:93200200-93200400	Enhancers	Stomach Smooth Muscle	stomach
11	chr15:93200200-93201000	Weak transcription	Ovary	ovary
12	chr15:93200200-93202400	Weak transcription	GM12878-XiMat	blood
13	chr15:93200200-93207600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr15:93200200-93207600	Weak transcription	Pancreas	Pancrea

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