Variant report

Variant	rs1053407
Chromosome Location	chr1:166882737-166882738
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:166882095..166884547-chr1:167023001..167025778,2	MCF-7	breast:
2	chr1:166880858..166882981-chr1:166883869..166886507,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 7 )

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

rs_ID	r²[population]
rs11582566	0.96[CEU][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs12117020	0.93[GIH][hapmap]
rs2013526	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2014854	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2072741	0.85[CEU][hapmap];0.91[TSI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2075981	0.89[TSI][hapmap]
rs2075982	0.85[CEU][hapmap];0.80[MEX][hapmap];0.91[TSI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2312238	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2837	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs393025	0.82[AMR][1000 genomes]
rs402031	0.84[AMR][1000 genomes]
rs453395	0.85[AMR][1000 genomes]
rs4657614	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6427038	0.84[EUR][1000 genomes]
rs6427046	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6688277	0.91[EUR][1000 genomes]
rs6690192	0.88[CEU][hapmap];0.98[TSI][hapmap];0.85[EUR][1000 genomes]
rs7532247	0.82[EUR][1000 genomes]
rs7552562	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs926266	0.87[GIH][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916491	chr1:166000783-166948513	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs1053407	MAEL	cis	Nerve Tibial	GTEx
rs1053407	ANKRD36BP1	cis	parietal	SCAN
rs1053407	DUSP12	cis	cerebellum	SCAN
rs1053407	MAEL	cis	parietal	SCAN
rs1053407	TBX19	cis	cerebellum	SCAN
rs1053407	MAEL	cis	lymphoblastoid	seeQTL
rs1053407	DUTP6	cis	Artery Aorta	GTEx

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166876400-166889400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr1:166876800-166889400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr1:166877200-166883200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:166878800-166883000	Weak transcription	Placenta	Placenta
5	chr1:166879200-166889600	Weak transcription	Brain Anterior Caudate	brain
6	chr1:166879400-166889600	Weak transcription	Brain Hippocampus Middle	brain
7	chr1:166880000-166886600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr1:166880200-166885200	Weak transcription	HMEC	breast
9	chr1:166880800-166909600	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr1:166881400-166884400	Weak transcription	NH-A	brain
11	chr1:166882200-166885200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr1:166882200-166885400	Enhancers	Placenta Amnion	Placenta Amnion
13	chr1:166882200-166888400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:166882200-166899600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:166882400-166882800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:166882400-166884600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:166882400-166884600	Weak transcription	Dnd41	blood
18	chr1:166882400-166886800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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