Variant report

Variant	rs1981824
Chromosome Location	chr5:151327943-151327944
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1428157	0.90[CHB][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs1549619	0.84[ASN][1000 genomes]
rs1549620	0.84[ASN][1000 genomes]
rs167321	0.86[ASN][1000 genomes]
rs169988	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs177349	0.86[ASN][1000 genomes]
rs177350	0.86[ASN][1000 genomes]
rs182488	0.86[ASN][1000 genomes]
rs186217	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.90[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs188553	0.86[ASN][1000 genomes]
rs188554	0.83[ASN][1000 genomes]
rs2584895	0.81[CHB][hapmap];0.86[ASN][1000 genomes]
rs302392	0.86[ASN][1000 genomes]
rs302393	0.96[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs302394	0.91[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs302395	0.86[ASN][1000 genomes]
rs302396	0.90[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs302397	0.86[ASN][1000 genomes]
rs302400	0.96[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs302401	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs302402	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs302412	0.86[ASN][1000 genomes]
rs302413	0.86[ASN][1000 genomes]
rs302414	0.86[ASN][1000 genomes]
rs302415	0.86[ASN][1000 genomes]
rs400545	0.90[CHB][hapmap];0.86[ASN][1000 genomes]
rs404794	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs428264	0.92[ASN][1000 genomes]
rs433211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6579913	0.83[ASN][1000 genomes]
rs73794753	0.81[AFR][1000 genomes]
rs919260	0.88[ASN][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	nsv531994	chr5:151292664-151331097	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1981824	TCOF1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:151324000-151331600	Weak transcription	Right Atrium	heart
2	chr5:151326400-151329000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:151326800-151330600	Enhancers	HMEC	breast
4	chr5:151327000-151328200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr5:151327000-151328400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:151327200-151328200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr5:151327200-151328400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr5:151327200-151330000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:151327400-151328200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
10	chr5:151327400-151328200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr5:151327400-151328400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:151327400-151328800	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr5:151327400-151328800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:151327600-151328200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr5:151327600-151328200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr5:151327600-151328200	Enhancers	GM12878-XiMat	blood
17	chr5:151327600-151328800	Weak transcription	HSMMtube	muscle
18	chr5:151327800-151335000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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