Variant report

Variant	rs72945871
Chromosome Location	chr4:148526215-148526216
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:148518441..148521336-chr4:148523862..148526303,2	K562	blood:
2	chr4:148511550..148513191-chr4:148525701..148528628,2	K562	blood:
3	chr4:148526097..148528506-chr4:148530218..148532114,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10011891	0.83[AMR][1000 genomes]
rs10023419	0.83[AMR][1000 genomes]
rs10029636	0.83[AMR][1000 genomes]
rs10034181	0.83[AMR][1000 genomes]
rs11931510	0.83[AMR][1000 genomes]
rs11932755	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11932883	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17023581	0.85[AMR][1000 genomes]
rs28416885	0.83[AMR][1000 genomes]
rs28579791	0.83[AMR][1000 genomes]
rs28676674	0.85[AMR][1000 genomes]
rs34001293	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57632432	1.00[AMR][1000 genomes]
rs58012022	1.00[AMR][1000 genomes]
rs58285779	1.00[AMR][1000 genomes]
rs58965352	0.83[AMR][1000 genomes]
rs59938265	1.00[AMR][1000 genomes]
rs61312957	1.00[AMR][1000 genomes]
rs61355480	1.00[AMR][1000 genomes]
rs61363583	1.00[AMR][1000 genomes]
rs72945873	1.00[AMR][1000 genomes]
rs72945877	1.00[AMR][1000 genomes]
rs72945879	1.00[AMR][1000 genomes]
rs72945896	1.00[AMR][1000 genomes]
rs72947812	1.00[AMR][1000 genomes]
rs72947824	1.00[AMR][1000 genomes]
rs72947833	1.00[AMR][1000 genomes]
rs72947849	1.00[AMR][1000 genomes]
rs72947870	1.00[AMR][1000 genomes]
rs72947876	1.00[AMR][1000 genomes]
rs72947892	1.00[AMR][1000 genomes]
rs72949789	1.00[AMR][1000 genomes]
rs72949795	1.00[AMR][1000 genomes]
rs72949796	1.00[AMR][1000 genomes]
rs72949798	0.83[AMR][1000 genomes]
rs72951406	0.83[AMR][1000 genomes]
rs72951412	0.83[AMR][1000 genomes]
rs72951422	0.83[AMR][1000 genomes]
rs72951423	0.83[AMR][1000 genomes]
rs72953473	0.83[AMR][1000 genomes]
rs72953477	0.83[AMR][1000 genomes]
rs72953481	0.83[AMR][1000 genomes]
rs72953502	0.83[AMR][1000 genomes]
rs72955506	0.83[AMR][1000 genomes]
rs9993312	0.85[AMR][1000 genomes]
rs9996365	0.83[AMR][1000 genomes]
rs9997304	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv830110	chr4:148432125-148595119	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv428776	chr4:148432125-148595119	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	esv2763396	chr4:148516769-148535636	Enhancers Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
6	nsv1019205	chr4:148524852-148576265	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr4:148519200-148538000	Weak transcription	Aorta	Aorta
2	chr4:148521400-148526800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr4:148521400-148538000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:148521600-148526800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr4:148521600-148531400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr4:148522000-148526800	Weak transcription	Osteobl	bone
7	chr4:148525800-148526400	Enhancers	Stomach Smooth Muscle	stomach
8	chr4:148526200-148527200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:148526200-148527200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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