Variant report

Variant	rs55971224
Chromosome Location	chr1:180104274-180104275
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:180102053..180104818-chr1:180123174..180124912,3	MCF-7	breast:
2	chr1:180103058..180105624-chr1:180121749..180125496,3	MCF-7	breast:
3	chr1:180103980..180105902-chr1:180120420..180121995,2	MCF-7	breast:
4	chr1:179799799..179801521-chr1:180102704..180104863,2	K562	blood:
5	chr1:180103401..180107232-chr1:180135881..180138747,3	MCF-7	breast:
6	chr1:180103740..180108161-chr1:180108399..180112441,6	K562	blood:

Variant related genes	Relation type
ENSG00000116260	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11810556	0.89[ASN][1000 genomes]
rs12091685	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12094391	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17371566	0.87[ASN][1000 genomes]
rs2319676	0.86[EUR][1000 genomes]
rs2477106	0.83[EUR][1000 genomes]
rs2477117	0.83[EUR][1000 genomes]
rs2501608	0.83[EUR][1000 genomes]
rs2501614	0.83[EUR][1000 genomes]
rs3753814	0.81[ASN][1000 genomes]
rs4379644	0.86[EUR][1000 genomes]
rs4604657	0.99[ASN][1000 genomes]
rs4652461	0.86[EUR][1000 genomes]
rs4652470	0.95[ASN][1000 genomes]
rs4652476	0.92[ASN][1000 genomes]
rs55953436	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56279106	0.97[ASN][1000 genomes]
rs59235710	0.84[ASN][1000 genomes]
rs6425602	0.82[EUR][1000 genomes]
rs6425606	0.84[ASN][1000 genomes]
rs6425607	0.84[ASN][1000 genomes]
rs6676989	0.88[EUR][1000 genomes]
rs6682558	0.84[ASN][1000 genomes]
rs72710681	0.90[ASN][1000 genomes]
rs7518534	0.90[ASN][1000 genomes]
rs7545835	0.94[ASN][1000 genomes]
rs7547954	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7548486	0.95[ASN][1000 genomes]
rs9425853	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429936	chr1:179790343-180214343	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv1003739	chr1:180027760-180483292	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv535217	chr1:180027760-180483292	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv1012558	chr1:180027960-180217613	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv535218	chr1:180027960-180217613	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv497930	chr1:180031321-180220723	Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv533073	chr1:180031328-180217612	Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv916937	chr1:180031328-180220685	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180101200-180105400	Weak transcription	NH-A	brain
2	chr1:180101400-180104800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr1:180101400-180104800	Weak transcription	HUVEC	blood vessel
4	chr1:180101600-180104800	Weak transcription	Osteobl	bone
5	chr1:180101800-180104600	Weak transcription	NHLF	lung
6	chr1:180102000-180105400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:180102400-180105400	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr1:180103000-180105400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:180104200-180107000	Weak transcription	Primary neutrophils fromperipheralblood	blood

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