Variant report

Variant	rs72931336
Chromosome Location	chr11:62687336-62687337
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr11:62687278-62687792	K562	blood:	n/a	chr11:62687516-62687524
2	NR2F2	chr11:62687316-62687772	K562	blood:	n/a	chr11:62687388-62687403
3	TEAD4	chr11:62687287-62687783	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:62605717..62611783-chr11:62684382..62688073,7	K562	blood:
2	chr11:62655359..62658338-chr11:62686047..62688444,2	K562	blood:
3	chr11:62622504..62624182-chr11:62686066..62688512,2	K562	blood:
4	chr11:62686826..62688779-chr11:62689068..62691187,2	K562	blood:
5	chr11:62670875..62680186-chr11:62684644..62693105,18	MCF-7	breast:
6	chr11:62682515..62686496-chr11:62687145..62690547,5	K562	blood:
7	chr11:62606809..62611421-chr11:62687018..62693613,7	MCF-7	breast:
8	chr11:62676072..62679546-chr11:62682200..62691147,12	MCF-7	breast:
9	chr11:62686064..62688181-chr11:62691956..62694745,2	MCF-7	breast:
10	chr11:62683827..62686119-chr11:62686638..62688972,2	MCF-7	breast:
11	chr11:62605044..62611833-chr11:62683227..62691981,12	MCF-7	breast:
12	chr11:62687026..62689620-chr11:62751524..62753744,2	K562	blood:

No data

Variant related genes	Relation type
CHRM1	TF binding region
ENSG00000168539	Chromatin interaction
ENSG00000255717	Chromatin interaction
ENSG00000257002	Chromatin interaction
ENSG00000168003	Chromatin interaction
ENSG00000197901	Chromatin interaction
ENSG00000133316	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12275975	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55743078	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72931343	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72931349	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72931356	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72931361	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72931371	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72931384	0.80[EUR][1000 genomes]
rs72933464	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv1041770	chr11:62610353-62871767	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	263 gene(s)	inside rSNPs	diseases
4	esv34011	chr11:62652779-62993702	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62684400-62689200	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr11:62684400-62689400	Active TSS	Brain Cingulate Gyrus	brain
3	chr11:62685000-62688800	Active TSS	Brain Angular Gyrus	brain
4	chr11:62685000-62689200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr11:62685400-62689400	Active TSS	Brain Anterior Caudate	brain
6	chr11:62685600-62688000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:62685600-62688400	Active TSS	Brain Hippocampus Middle	brain
8	chr11:62686200-62687400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:62686200-62687400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:62686400-62687400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:62686600-62689600	Enhancers	Fetal Heart	heart
12	chr11:62686800-62688000	Enhancers	K562	blood
13	chr11:62687000-62687800	Flanking Active TSS	Fetal Brain Male	brain
14	chr11:62687000-62687800	Bivalent Enhancer	Fetal Lung	lung
15	chr11:62687000-62689400	Flanking Active TSS	Brain Germinal Matrix	brain
16	chr11:62687200-62687400	Enhancers	Fetal Intestine Small	intestine
17	chr11:62687200-62687600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
18	chr11:62687200-62687600	Active TSS	Fetal Brain Female	brain
19	chr11:62687200-62687800	Enhancers	Lung	lung
20	chr11:62687200-62688000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
21	chr11:62687200-62689000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr11:62687200-62689400	Enhancers	Placenta	Placenta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links