Variant report

Variant	rs285748
Chromosome Location	chr15:93215766-93215767
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr15:93215084-93216043	SH-SY5Y	brain:	n/a	n/a
2	GATA2	chr15:93215311-93216139	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:93208505..93210593-chr15:93213536..93216229,2	K562	blood:
2	chr15:93208998..93212219-chr15:93213312..93218105,6	MCF-7	breast:

Variant related genes	Relation type
FAM174B	TF binding region
ENSG00000185442	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1530026	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs16947147	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs16947163	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs172263	1.00[CHB][hapmap]
rs1874507	1.00[CHB][hapmap]
rs285720	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs285722	1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs285747	1.00[CHB][hapmap]
rs285750	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs285751	0.91[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs285752	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs285753	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs438230	1.00[CHB][hapmap]
rs57086675	0.86[ASN][1000 genomes]
rs58676532	0.86[ASN][1000 genomes]
rs58969800	0.86[ASN][1000 genomes]
rs61315665	0.86[ASN][1000 genomes]
rs7171211	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs7174458	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7176540	0.86[ASN][1000 genomes]
rs73460450	0.86[ASN][1000 genomes]
rs73460492	0.86[ASN][1000 genomes]
rs73460496	0.86[ASN][1000 genomes]
rs8025100	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs8037598	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs8038942	0.86[ASN][1000 genomes]
rs8041176	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs89062	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9744183	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	nsv1036897	chr15:93211991-93239388	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs285748	LOC400451	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:93211200-93218000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr15:93211600-93221400	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr15:93211800-93216400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr15:93211800-93216600	Weak transcription	Fetal Stomach	stomach
5	chr15:93211800-93218400	Weak transcription	Right Atrium	heart
6	chr15:93211800-93224400	Weak transcription	Fetal Muscle Leg	muscle
7	chr15:93213200-93216600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr15:93213800-93217200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr15:93214400-93217200	Enhancers	Fetal Lung	lung
10	chr15:93214800-93232200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr15:93215200-93220000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr15:93215400-93216000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr15:93215600-93217400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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