Variant report

Variant	rs7116534
Chromosome Location	chr11:47464584-47464585
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELF1	chr11:47464564-47464966	A549	lung:	n/a	chr11:47464776-47464785 chr11:47464773-47464786 chr11:47464775-47464786
2	CTCF	chr11:47464560-47464710	GM12867	blood:	n/a	n/a
3	CTCF	chr11:47464482-47465101	MCF-7	breast:	n/a	n/a
4	ELF1	chr11:47464503-47465054	MCF-7	breast:	n/a	chr11:47464776-47464785 chr11:47464773-47464786 chr11:47464775-47464786
5	ELF1	chr11:47464562-47464957	HepG2	liver:	n/a	chr11:47464776-47464785 chr11:47464773-47464786 chr11:47464775-47464786
6	ELF1	chr11:47464482-47465196	MCF-7	breast:	n/a	chr11:47464776-47464785 chr11:47464773-47464786 chr11:47464775-47464786
7	CTCF	chr11:47464580-47464730	HMF	breast:	n/a	n/a
8	CTCF	chr11:47464358-47465103	A549	lung:	n/a	chr11:47464450-47464458
9	CTCF	chr11:47464547-47464945	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAX	chr11:47464538-47465082	MCF-7	breast:	n/a	n/a
11	CTCF	chr11:47464528-47465057	MCF-7	breast:	n/a	n/a
12	CTCF	chr11:47464580-47464730	GM12868	blood:	n/a	n/a
13	CTCF	chr11:47464580-47464730	HFF-Myc	foreskin:	n/a	n/a
14	RAD21	chr11:47464538-47464888	H1-hESC	embryonic stem cell:	n/a	chr11:47464754-47464761

No.	Distal block	Cell Line	Cell type
1	chr11:47448979..47451743-chr11:47463608..47465807,2	K562	blood:
2	chr11:47461993..47464922-chr11:47469448..47471026,2	MCF-7	breast:
3	chr11:47461517..47466481-chr11:47469061..47471319,5	K562	blood:
4	chr11:47428130..47431471-chr11:47462803..47464877,5	MCF-7	breast:
5	chr11:47446295..47450524-chr11:47461441..47464685,6	MCF-7	breast:
6	chr11:47458007..47459868-chr11:47463393..47467045,3	K562	blood:
7	chr11:47428900..47431160-chr11:47463580..47465608,3	K562	blood:

Variant related genes	Relation type
RNU6-1302P	TF binding region
RAPSN	TF binding region
ENSG00000165916	Chromatin interaction
ENSG00000165915	Chromatin interaction
ENSG00000255197	Chromatin interaction
ENSG00000165917	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12285933	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17726706	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17726787	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs45547231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45603036	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45617144	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56007045	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57680742	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61895077	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61895081	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61895102	0.81[EUR][1000 genomes]
rs61895104	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61895111	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61895113	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61897423	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61897424	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61897426	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61897429	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61897430	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61897432	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61897434	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7102372	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7104800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7108608	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9919527	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9919657	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];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	nsv832141	chr11:47333180-47520993	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv897325	chr11:47411736-47600438	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers 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 miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv1036011	chr11:47413060-47582279	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
4	nsv975328	chr11:47446815-47471052	Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47448600-47488400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:47453400-47469200	Weak transcription	Psoas Muscle	Psoas
3	chr11:47453400-47480000	Weak transcription	Thymus	Thymus
4	chr11:47456600-47468600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr11:47457400-47480200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:47457400-47480800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:47457400-47488400	Weak transcription	Gastric	stomach
8	chr11:47457800-47469000	Weak transcription	Spleen	Spleen
9	chr11:47459800-47466400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:47459800-47469400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:47459800-47470800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr11:47459800-47480600	Weak transcription	Fetal Intestine Small	intestine
13	chr11:47459800-47480800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr11:47460000-47470800	Weak transcription	Lung	lung
15	chr11:47460000-47475600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr11:47460400-47464800	Strong transcription	HSMMtube	muscle
17	chr11:47460600-47465600	Weak transcription	Liver	Liver
18	chr11:47460600-47469200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr11:47461600-47464800	Strong transcription	Fetal Muscle Trunk	muscle
20	chr11:47461800-47480800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr11:47462000-47464800	Strong transcription	HSMM	muscle
22	chr11:47462200-47464600	Weak transcription	HepG2	liver
23	chr11:47463000-47465200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
24	chr11:47463600-47465400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
25	chr11:47463600-47469200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr11:47463600-47469200	Weak transcription	Placenta	Placenta
27	chr11:47463600-47469400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr11:47464000-47465200	Enhancers	Brain Anterior Caudate	brain
29	chr11:47464000-47465400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr11:47464000-47481000	Weak transcription	NHEK	skin
31	chr11:47464200-47464600	Enhancers	Fetal Brain Male	brain
32	chr11:47464200-47465000	Enhancers	Adipose Nuclei	Adipose
33	chr11:47464200-47465000	Enhancers	Brain Hippocampus Middle	brain
34	chr11:47464200-47466000	Enhancers	Fetal Thymus	thymus
35	chr11:47464400-47464800	Enhancers	Brain Substantia Nigra	brain
36	chr11:47464400-47465000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr11:47464400-47465200	Enhancers	Brain Angular Gyrus	brain
38	chr11:47464400-47465200	Enhancers	Brain Cingulate Gyrus	brain
39	chr11:47464400-47465200	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr11:47464400-47465400	Genic enhancers	Fetal Muscle Leg	muscle
41	chr11:47464400-47465400	Enhancers	Left Ventricle	heart

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