Variant report

Variant	rs172263
Chromosome Location	chr15:93212798-93212799
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:93207992..93209553-chr15:93211342..93213959,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11857315	1.00[CHB][hapmap];0.84[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12907094	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12910861	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1467972	1.00[JPT][hapmap]
rs1530026	1.00[CHB][hapmap]
rs16947147	1.00[CHB][hapmap]
rs16947163	1.00[CHB][hapmap]
rs172264	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1874507	1.00[CHB][hapmap]
rs285733	1.00[JPT][hapmap]
rs285746	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs285747	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs285748	1.00[CHB][hapmap]
rs285753	1.00[CHB][hapmap]
rs374653	0.94[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs376138	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs380184	0.94[CEU][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs389334	1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs391059	0.96[EUR][1000 genomes]
rs401072	0.94[CEU][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs413646	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs438230	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7171211	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7174458	1.00[CHB][hapmap]
rs8025100	1.00[CHB][hapmap]
rs8037598	1.00[CHB][hapmap]
rs8041176	1.00[CHB][hapmap]
rs89062	1.00[CHB][hapmap]

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
rs172263	LOC400451	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:93207200-93213000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr15:93210800-93212800	Weak transcription	HSMMtube	muscle
3	chr15:93211200-93212800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr15:93211200-93212800	Weak transcription	HSMM	muscle
5	chr15:93211200-93214800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr15:93211200-93218000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr15:93211600-93213000	Weak transcription	Fetal Intestine Large	intestine
8	chr15:93211600-93213200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
9	chr15:93211600-93214000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr15:93211600-93214600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr15:93211600-93221400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr15:93211800-93212800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr15:93211800-93213800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr15:93211800-93216400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr15:93211800-93216600	Weak transcription	Fetal Stomach	stomach
16	chr15:93211800-93218400	Weak transcription	Right Atrium	heart
17	chr15:93211800-93224400	Weak transcription	Fetal Muscle Leg	muscle
18	chr15:93212000-93214600	Weak transcription	Fetal Kidney	kidney
19	chr15:93212400-93213000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr15:93212400-93213200	Enhancers	Ovary	ovary
21	chr15:93212600-93213200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr15:93212600-93213200	Enhancers	Fetal Lung	lung

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