Variant report

Variant	rs73444672
Chromosome Location	chr6:45299981-45299982
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:45294783..45298304-chr6:45298765..45304802,5	K562	blood:
2	chr6:45294565..45296467-chr6:45297982..45300166,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000124813	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10498759	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16873351	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28463085	0.82[EUR][1000 genomes]
rs28877051	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34927422	0.92[EUR][1000 genomes]
rs4582383	0.92[EUR][1000 genomes]
rs58398217	0.92[EUR][1000 genomes]
rs58892785	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58902999	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs59379038	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6901579	0.84[EUR][1000 genomes]
rs6912047	0.82[EUR][1000 genomes]
rs73441184	0.92[EUR][1000 genomes]
rs73444674	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73444688	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7744673	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7764969	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9463079	0.82[EUR][1000 genomes]
rs9463080	0.93[EUR][1000 genomes]
rs9463082	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9472454	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9472455	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9472457	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9472458	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9472462	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9472464	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9472465	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9472466	0.96[EUR][1000 genomes]
rs9472468	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9472470	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9472472	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv830652	chr6:45187467-45328983	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45292600-45301600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr6:45296200-45322800	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr6:45298000-45301600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr6:45298000-45305800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:45298400-45320800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:45299000-45301000	Active TSS	Osteobl	bone
7	chr6:45299000-45301200	Weak transcription	Dnd41	blood
8	chr6:45299200-45300000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:45299200-45333200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:45299400-45343800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:45299800-45300200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr6:45299800-45300600	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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