Variant report

Variant	rs1051713
Chromosome Location	chr10:45938746-45938747
allele	C/T
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	CCNT2	chr10:45938723-45938888	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:45937636..45940584-chr10:45947625..45949298,2	MCF-7	breast:

Variant related genes	Relation type
ALOX5	TF binding region
ENSG00000231964	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1059696	0.95[EUR][1000 genomes]
rs11239528	0.80[YRI][hapmap]
rs11239532	1.00[CEU][hapmap];0.80[YRI][hapmap];0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11239534	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs11239540	0.82[EUR][1000 genomes]
rs11239549	0.84[ASN][1000 genomes]
rs11239572	0.87[CEU][hapmap]
rs12246131	0.82[YRI][hapmap]
rs12247163	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12249012	0.82[YRI][hapmap]
rs12266963	0.86[ASN][1000 genomes]
rs12765320	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12783037	0.86[ASN][1000 genomes]
rs1487562	0.87[EUR][1000 genomes]
rs2082109	0.96[EUR][1000 genomes]
rs2082110	0.96[EUR][1000 genomes]
rs2082111	0.96[EUR][1000 genomes]
rs2310783	0.82[YRI][hapmap];0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3780908	0.88[EUR][1000 genomes]
rs3891524	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56145077	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61854092	0.96[EUR][1000 genomes]
rs61854093	0.97[EUR][1000 genomes]
rs7068039	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7080474	0.82[CEU][hapmap];0.87[EUR][1000 genomes]
rs71494783	0.86[ASN][1000 genomes]
rs72796498	0.81[AFR][1000 genomes]
rs74130823	0.80[EUR][1000 genomes]
rs752059	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs970548	0.80[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430166	chr10:45668894-46148794	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active 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	15 gene(s)	inside rSNPs	diseases
2	nsv993428	chr10:45742877-46224333	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv895107	chr10:45850300-45953767	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv895108	chr10:45878908-46224333	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv895109	chr10:45882741-46210665	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv895110	chr10:45912771-45953767	Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv1043536	chr10:45915941-46076235	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers 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 target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1051713	ALOX5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45916600-45949200	Weak transcription	Gastric	stomach
2	chr10:45925000-45940600	Weak transcription	Fetal Intestine Small	intestine
3	chr10:45925000-45949200	Weak transcription	Lung	lung
4	chr10:45928800-45951000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr10:45929200-45951600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr10:45934000-45939400	Weak transcription	GM12878-XiMat	blood
7	chr10:45934000-45951200	Weak transcription	Esophagus	oesophagus
8	chr10:45934200-45942000	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr10:45934400-45941800	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr10:45934600-45941400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr10:45934800-45939200	Weak transcription	Pancreas	Pancrea
12	chr10:45935400-45943600	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr10:45937800-45948200	Weak transcription	Adipose Nuclei	Adipose
14	chr10:45938200-45939000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr10:45938200-45948600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr10:45938400-45939000	ZNF genes & repeats	Spleen	Spleen
17	chr10:45938400-45940200	Weak transcription	Primary B cells from peripheral blood	blood
18	chr10:45938600-45940200	Weak transcription	Primary B cells from cord blood	blood
19	chr10:45938600-45967200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr10:45938600-45967200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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