Variant report

Variant	rs1480354
Chromosome Location	chr3:51364458-51364459
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs1031925	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1055429	0.80[AMR][1000 genomes]
rs10865970	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11130293	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11721253	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12632046	0.84[EUR][1000 genomes]
rs1383251	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1480353	0.84[EUR][1000 genomes]
rs1542574	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1552074	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2127655	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2219890	0.84[EUR][1000 genomes]
rs2241784	0.82[EUR][1000 genomes]
rs4428169	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4611808	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4687569	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4974104	0.84[EUR][1000 genomes]
rs4974105	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4974106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6445620	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6445622	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6445624	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6445628	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6773260	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6793900	0.81[AMR][1000 genomes]
rs7372658	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs751075	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7625006	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9311469	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005858	chr3:51090373-51444027	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv536569	chr3:51090373-51444027	Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1014464	chr3:51220151-51909780	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
4	esv20206	chr3:51344873-51415825	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1480354	TEX264	cis	Nerve Tibial	GTEx
rs1480354	TEX264	cis	Esophagus Muscularis	GTEx
rs1480354	TEX264	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:51340000-51370800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr3:51341600-51372000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:51344200-51371800	Weak transcription	Brain Substantia Nigra	brain
4	chr3:51351800-51367600	Weak transcription	Brain Anterior Caudate	brain
5	chr3:51351800-51369200	Weak transcription	Brain Hippocampus Middle	brain
6	chr3:51352800-51369800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:51353000-51370000	Weak transcription	Brain Germinal Matrix	brain
8	chr3:51353000-51370200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr3:51353200-51367600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr3:51353200-51370200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr3:51353400-51369400	Weak transcription	Fetal Brain Female	brain
12	chr3:51353400-51375800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr3:51353400-51377600	Weak transcription	Left Ventricle	heart
14	chr3:51353800-51367600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr3:51358000-51376200	Weak transcription	HSMMtube	muscle
16	chr3:51358200-51367400	Weak transcription	Brain Angular Gyrus	brain
17	chr3:51358800-51377400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr3:51364200-51375800	Weak transcription	Right Ventricle	heart

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