Variant report

Variant	rs55757920
Chromosome Location	chr1:184742411-184742412
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:184739002..184743588-chr1:184744017..184748544,8	K562	blood:
2	chr1:184739309..184743486-chr1:184940567..184944338,4	K562	blood:
3	chr1:184722046..184724182-chr1:184741436..184743327,3	K562	blood:
4	chr1:184740567..184743052-chr1:184753891..184756222,2	K562	blood:
5	chr1:184738115..184740577-chr1:184741061..184743671,2	K562	blood:

Variant related genes	Relation type
ENSG00000116406	Chromatin interaction
ENSG00000135842	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1465106	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234642	1.00[ASN][1000 genomes]
rs234647	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234649	1.00[ASN][1000 genomes]
rs234651	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234652	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234653	1.00[ASN][1000 genomes]
rs234654	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234655	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234656	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234664	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28927681	0.82[EUR][1000 genomes]
rs35545276	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35704242	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3845472	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55637494	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55710473	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56076998	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56278505	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56374790	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs639593	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7528487	0.89[EUR][1000 genomes]
rs7528626	0.83[EUR][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	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv832037	chr1:184568194-184756597	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv917126	chr1:184655366-184902273	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv832048	chr1:184660146-184858802	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184724800-184742600	Weak transcription	Gastric	stomach
2	chr1:184739800-184751200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:184741400-184742600	Weak transcription	K562	blood
4	chr1:184742200-184743000	Enhancers	Pancreas	Pancrea
5	chr1:184742400-184743400	Enhancers	Stomach Mucosa	stomach
6	chr1:184742400-184743800	Enhancers	Fetal Intestine Small	intestine

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