Variant report

Variant	rs60862021
Chromosome Location	chr4:148528579-148528580
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	chr4:148511550..148513191-chr4:148525701..148528628,2	K562	blood:
2	chr4:148528379..148531648-chr4:148533404..148536404,5	MCF-7	breast:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10015717	0.83[ASN][1000 genomes]
rs1005871	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10519911	0.91[ASN][1000 genomes]
rs12507247	0.83[ASN][1000 genomes]
rs13108782	0.82[ASN][1000 genomes]
rs17675572	0.88[ASN][1000 genomes]
rs2036498	0.85[ASN][1000 genomes]
rs2036500	0.91[ASN][1000 genomes]
rs2036501	0.85[ASN][1000 genomes]
rs2357926	0.87[ASN][1000 genomes]
rs2654937	0.91[ASN][1000 genomes]
rs2654938	0.92[ASN][1000 genomes]
rs2654940	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2654941	0.85[ASN][1000 genomes]
rs2654948	0.85[ASN][1000 genomes]
rs2654949	0.83[ASN][1000 genomes]
rs2718447	0.91[ASN][1000 genomes]
rs2718448	0.89[ASN][1000 genomes]
rs2718449	0.87[ASN][1000 genomes]
rs2718452	0.82[ASN][1000 genomes]
rs2718453	0.85[ASN][1000 genomes]
rs2718454	0.85[ASN][1000 genomes]
rs2718455	0.85[ASN][1000 genomes]
rs2718457	0.83[ASN][1000 genomes]
rs2718458	0.88[ASN][1000 genomes]
rs2884383	0.83[ASN][1000 genomes]
rs4835439	0.80[ASN][1000 genomes]
rs4835440	0.80[ASN][1000 genomes]
rs4835445	0.81[ASN][1000 genomes]
rs57690385	0.85[ASN][1000 genomes]
rs6535552	0.82[ASN][1000 genomes]
rs6535553	0.81[ASN][1000 genomes]
rs6535554	0.81[ASN][1000 genomes]
rs6841745	0.85[ASN][1000 genomes]
rs6845224	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6845592	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6846220	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7655893	0.83[ASN][1000 genomes]
rs7660361	0.83[ASN][1000 genomes]
rs7666065	0.83[ASN][1000 genomes]
rs7675850	0.83[ASN][1000 genomes]
rs7687368	0.83[ASN][1000 genomes]
rs7690974	0.80[ASN][1000 genomes]
rs884761	0.87[ASN][1000 genomes]
rs924783	0.80[ASN][1000 genomes]
rs9998065	0.85[ASN][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	chr4:148521400-148538000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:148521600-148531400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:148527000-148537600	Weak transcription	Brain Anterior Caudate	brain
5	chr4:148527200-148531200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:148527200-148531600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:148527200-148538000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:148528200-148529600	Enhancers	HepG2	liver
9	chr4:148528400-148529400	Enhancers	Fetal Intestine Large	intestine

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