Variant report

Variant	rs74148142
Chromosome Location	chr1:222766923-222766924
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:222638953..222640501-chr1:222764868..222767019,2	K562	blood:
2	chr1:222766824..222768989-chr1:222789667..222791843,2	MCF-7	breast:
3	chr1:222737305..222739948-chr1:222766255..222768391,2	K562	blood:
4	chr1:222765298..222768386-chr1:222792125..222794006,3	K562	blood:

Variant related genes	Relation type
ENSG00000154305	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1024065	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10495194	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17463740	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17464857	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17511318	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1909194	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1982983	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2006790	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2936030	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2936039	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2936041	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2936044	0.89[EUR][1000 genomes]
rs2936045	0.89[EUR][1000 genomes]
rs2936046	0.89[EUR][1000 genomes]
rs3002130	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3008645	0.88[EUR][1000 genomes]
rs3008647	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3008653	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3008654	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3008655	0.87[EUR][1000 genomes]
rs35750438	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4328077	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73122816	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73122823	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73122834	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73122837	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73122849	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73122850	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73122857	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74145503	0.97[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs74148133	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs74148140	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9441828	0.89[EUR][1000 genomes]
rs9441911	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873203	chr1:222332906-222775000	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv873205	chr1:222718718-222923351	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222764000-222767800	Weak transcription	Gastric	stomach
2	chr1:222764000-222768200	Weak transcription	Fetal Kidney	kidney
3	chr1:222764000-222773600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:222764200-222769800	Weak transcription	Fetal Heart	heart
5	chr1:222764400-222768800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:222764400-222769200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr1:222764600-222768400	Weak transcription	Liver	Liver

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