Variant report

Variant	rs1864532
Chromosome Location	chr18:12569486-12569487
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:12568662..12571031-chr18:12574668..12577642,2	K562	blood:
2	chr18:12568355..12572681-chr18:12573228..12577105,4	K562	blood:
3	chr18:12566971..12569951-chr18:12635149..12637738,2	K562	blood:

Variant related genes	Relation type
ENSG00000134278	Chromatin interaction

Extended variants
information (count: 92 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10401097	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11080585	0.96[CEU][hapmap];0.81[CHB][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11080586	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11080590	0.96[CEU][hapmap];0.80[CHB][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11659510	0.82[EUR][1000 genomes]
rs11659854	0.95[CEU][hapmap];0.82[JPT][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11663958	0.96[CEU][hapmap];0.86[CHB][hapmap];0.91[CHD][hapmap];0.87[GIH][hapmap];0.81[JPT][hapmap];0.89[LWK][hapmap];0.91[MEX][hapmap];0.94[TSI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11664404	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11664765	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11664861	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11664914	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11664917	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11664927	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11664936	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11665543	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12326271	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12455536	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12455892	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12457903	0.86[CHB][hapmap];0.84[CHD][hapmap]
rs12604184	0.96[CEU][hapmap];0.81[CHB][hapmap];0.91[CHD][hapmap];0.87[GIH][hapmap];0.81[JPT][hapmap];0.89[LWK][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12604402	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12605240	0.88[CHD][hapmap];0.85[JPT][hapmap]
rs12605392	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12606465	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12709540	0.92[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.88[YRI][hapmap];0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12953578	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12956133	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12956385	0.90[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12956885	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12957048	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12960150	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12961695	0.90[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12962476	0.83[JPT][hapmap]
rs12963325	0.82[ASN][1000 genomes]
rs12969567	0.96[CEU][hapmap];0.88[CHD][hapmap];0.87[GIH][hapmap];0.81[JPT][hapmap];0.86[LWK][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1893193	0.86[CHB][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs1940974	0.84[JPT][hapmap]
rs1940975	0.96[CEU][hapmap];0.85[CHB][hapmap];0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2155698	0.81[CHB][hapmap];0.81[JPT][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2186907	0.96[CEU][hapmap];0.80[CHB][hapmap];0.84[JPT][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35122110	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4389196	0.85[JPT][hapmap]
rs4627434	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4629035	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62097094	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs62097152	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs70964152	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs722708	0.92[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.87[YRI][hapmap];0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7237732	0.96[CEU][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7238080	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs723836	0.92[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.87[GIH][hapmap];0.85[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7242395	0.80[JPT][hapmap]
rs7504857	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs755020	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs755021	0.96[CEU][hapmap];0.85[CHB][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8086094	0.96[CEU][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8087885	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8088786	0.86[CHD][hapmap];0.85[JPT][hapmap]
rs8089115	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8093129	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8093532	0.90[JPT][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8093571	0.85[CHB][hapmap];0.86[CHD][hapmap];0.81[JPT][hapmap]
rs8095160	0.96[CEU][hapmap];0.81[CHB][hapmap];0.91[CHD][hapmap];0.87[GIH][hapmap];0.81[JPT][hapmap];0.89[LWK][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8096455	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9303772	0.96[CEU][hapmap];0.80[CHB][hapmap];0.81[JPT][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9303773	0.96[CEU][hapmap];0.80[CHB][hapmap];0.81[JPT][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs948301	0.96[CEU][hapmap];0.88[CHD][hapmap];0.86[GIH][hapmap];0.86[LWK][hapmap];0.82[MEX][hapmap];0.94[TSI][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs948302	0.96[CEU][hapmap];0.81[CHB][hapmap];0.81[JPT][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs948303	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs9675543	0.96[CEU][hapmap];0.81[CHB][hapmap];0.81[JPT][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9947738	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9948505	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9948618	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9949582	0.96[CEU][hapmap];0.81[JPT][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9954054	0.96[CEU][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9954419	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9958409	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9958666	0.92[CEU][hapmap];0.81[JPT][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9959759	0.88[CHD][hapmap];0.85[JPT][hapmap]
rs9960824	0.96[CEU][hapmap];0.80[CHB][hapmap];0.81[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9964759	0.88[CHD][hapmap];0.85[JPT][hapmap]
rs9965123	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9967123	0.83[AMR][1000 genomes]
rs9989496	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9989506	0.96[CEU][hapmap];0.84[CHB][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9989568	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][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	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	nsv491873	chr18:12159445-12739784	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers 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	79 gene(s)	inside rSNPs	diseases
3	nsv909400	chr18:12201374-12585545	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	esv3528039	chr18:12396582-12851293	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	esv3528041	chr18:12396641-12851245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	nsv523743	chr18:12474505-12742809	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1864532	SPIRE1	cis	multi-tissue	Pritchard

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12553600-12574600	Weak transcription	Right Ventricle	heart
2	chr18:12553800-12569600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr18:12557600-12580800	Weak transcription	Pancreas	Pancrea
4	chr18:12558600-12570200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr18:12559800-12574600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr18:12568000-12569600	Enhancers	Left Ventricle	heart
7	chr18:12568600-12570000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr18:12569000-12569800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr18:12569200-12569800	Enhancers	Muscle Satellite Cultured Cells	--
10	chr18:12569200-12569800	Enhancers	NHEK	skin
11	chr18:12569200-12570200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr18:12569200-12572400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr18:12569400-12569800	Enhancers	HMEC	breast
14	chr18:12569400-12569800	Enhancers	NHDF-Ad	bronchial
15	chr18:12569400-12569800	Enhancers	Osteobl	bone
16	chr18:12569400-12570000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr18:12569400-12570200	Enhancers	Brain Cingulate Gyrus	brain
18	chr18:12569400-12570200	Enhancers	HSMM	muscle
19	chr18:12569400-12570800	Enhancers	Skeletal Muscle Female	skeletal muscle

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