Variant report

Variant	rs45547231
Chromosome Location	chr11:47469717-47469718
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:47461517..47464157-chr11:47469005..47471095,2	K562	blood:
2	chr11:47461517..47466481-chr11:47469061..47471319,5	K562	blood:
3	chr11:47461993..47464922-chr11:47469448..47471026,2	MCF-7	breast:
4	chr11:47427968..47429864-chr11:47469091..47470991,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165915	Chromatin interaction
ENSG00000165917	Chromatin interaction
ENSG00000252327	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12285933	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17726706	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17726787	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs45603036	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45617144	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56007045	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57680742	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61895077	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61895081	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61895104	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61895111	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61895113	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61897423	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61897424	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61897426	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61897429	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61897430	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61897432	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61897434	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7102372	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7104800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7108608	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7116534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9919527	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9919657	1.00[AFR][1000 genomes];0.93[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:37 , 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	chr11:47453400-47480000	Weak transcription	Thymus	Thymus
3	chr11:47457400-47480200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr11:47457400-47480800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:47457400-47488400	Weak transcription	Gastric	stomach
6	chr11:47459800-47470800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:47459800-47480600	Weak transcription	Fetal Intestine Small	intestine
8	chr11:47459800-47480800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr11:47460000-47470800	Weak transcription	Lung	lung
10	chr11:47460000-47475600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr11:47461800-47480800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:47464000-47481000	Weak transcription	NHEK	skin
13	chr11:47465000-47480800	Weak transcription	Adipose Nuclei	Adipose
14	chr11:47465200-47475600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr11:47465400-47470400	Weak transcription	Left Ventricle	heart
16	chr11:47465800-47480800	Weak transcription	Primary T cells from cord blood	blood
17	chr11:47466000-47471200	Weak transcription	Liver	Liver
18	chr11:47466000-47475600	Weak transcription	Fetal Thymus	thymus
19	chr11:47467800-47475600	Weak transcription	Colon Smooth Muscle	Colon
20	chr11:47468800-47469800	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
21	chr11:47468800-47482200	Weak transcription	HUVEC	blood vessel
22	chr11:47469000-47470400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr11:47469000-47471400	Enhancers	HepG2	liver
24	chr11:47469200-47470200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr11:47469200-47471400	Enhancers	Placenta	Placenta
26	chr11:47469400-47469800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr11:47469400-47469800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr11:47469400-47470600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr11:47469400-47470800	Active TSS	HSMMtube	muscle
30	chr11:47469400-47471000	Enhancers	Right Ventricle	heart
31	chr11:47469400-47471400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr11:47469600-47469800	Flanking Active TSS	Spleen	Spleen
33	chr11:47469600-47470600	Active TSS	Muscle Satellite Cultured Cells	--
34	chr11:47469600-47470600	Active TSS	Fetal Muscle Trunk	muscle
35	chr11:47469600-47470800	Active TSS	Fetal Muscle Leg	muscle
36	chr11:47469600-47470800	Active TSS	Psoas Muscle	Psoas
37	chr11:47469600-47470800	Active TSS	HSMM	muscle

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