Variant report

Variant	rs60270569
Chromosome Location	chr11:119896642-119896643
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	chr11:119893105..119894802-chr11:119896511..119898254,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10431043	0.83[ASN][1000 genomes]
rs10892514	0.92[ASN][1000 genomes]
rs10892519	0.87[ASN][1000 genomes]
rs10892521	0.86[ASN][1000 genomes]
rs11217630	0.87[ASN][1000 genomes]
rs11217633	0.90[ASN][1000 genomes]
rs11217635	0.91[ASN][1000 genomes]
rs11217636	0.92[ASN][1000 genomes]
rs11217637	0.92[ASN][1000 genomes]
rs11217647	0.88[ASN][1000 genomes]
rs11217665	0.82[ASN][1000 genomes]
rs11217666	0.82[ASN][1000 genomes]
rs12223988	0.92[ASN][1000 genomes]
rs12225953	0.82[ASN][1000 genomes]
rs12573999	0.87[ASN][1000 genomes]
rs12574203	0.90[ASN][1000 genomes]
rs12575245	0.84[ASN][1000 genomes]
rs56745971	0.92[ASN][1000 genomes]
rs56778655	0.93[ASN][1000 genomes]
rs57510602	0.91[ASN][1000 genomes]
rs57589469	0.87[ASN][1000 genomes]
rs58844530	0.83[ASN][1000 genomes]
rs60967975	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv832285	chr11:119789595-119957724	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1037777	chr11:119842515-119898368	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv541179	chr11:119842515-119898368	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv2762948	chr11:119876596-119901422	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv508657	chr11:119891578-119971212	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119891800-119897000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:119894600-119899400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:119896000-119901200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:119896200-119902200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:119896200-119902200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:119896400-119901000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr11:119896600-119901400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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