Variant report

Variant	rs12225051
Chromosome Location	chr11:47571967-47571968
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:47531749..47534788-chr11:47570653..47573178,3	K562	blood:
2	chr11:47571371..47576564-chr11:47585605..47588889,10	MCF-7	breast:
3	chr11:47571288..47573771-chr11:47598526..47602106,3	MCF-7	breast:
4	chr11:47569413..47573933-chr11:47586162..47588925,4	K562	blood:
5	chr11:47560397..47563182-chr11:47569730..47573934,4	K562	blood:
6	chr11:47277726..47279607-chr11:47571711..47573613,2	K562	blood:
7	chr11:47571923..47578059-chr11:47583779..47591283,17	MCF-7	breast:
8	chr11:47571551..47573073-chr11:47597137..47598833,2	MCF-7	breast:
9	chr11:47571243..47573652-chr11:47580748..47583116,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000231880	Chromatin interaction
ENSG00000149187	Chromatin interaction
ENSG00000213619	Chromatin interaction
ENSG00000025434	Chromatin interaction
ENSG00000123444	Chromatin interaction
ENSG00000200376	Chromatin interaction
ENSG00000110536	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10838726	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10838731	0.83[AMR][1000 genomes]
rs11039266	0.90[AMR][1000 genomes]
rs11039284	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11039290	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11039297	0.83[EUR][1000 genomes]
rs2280231	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61895112	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7118178	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71475921	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv832142	chr11:47517955-47681310	Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv314	chr11:47561564-47606256	Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv825872	chr11:47565425-47660330	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12225051	FNBP4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47546000-47572400	Weak transcription	Fetal Intestine Large	intestine
2	chr11:47546400-47573400	Weak transcription	Colonic Mucosa	Colon
3	chr11:47546400-47573600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:47553000-47573200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:47554400-47572400	Weak transcription	Aorta	Aorta
6	chr11:47554800-47572400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:47558400-47572600	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr11:47559600-47572600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr11:47561600-47573200	Weak transcription	Placenta	Placenta
10	chr11:47562000-47572600	Weak transcription	Brain Substantia Nigra	brain
11	chr11:47562200-47572000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr11:47562200-47572600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr11:47562200-47572800	Weak transcription	Fetal Kidney	kidney
14	chr11:47562400-47572200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:47562600-47572400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr11:47562600-47572400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr11:47562600-47572400	Weak transcription	Right Ventricle	heart
18	chr11:47562600-47573200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr11:47562800-47572200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr11:47562800-47572200	Weak transcription	NH-A	brain
21	chr11:47562800-47572200	Weak transcription	NHLF	lung
22	chr11:47562800-47572400	Weak transcription	Stomach Mucosa	stomach
23	chr11:47562800-47572400	Weak transcription	NHDF-Ad	bronchial
24	chr11:47563000-47572000	Weak transcription	HMEC	breast
25	chr11:47563000-47572000	Weak transcription	HSMM	muscle
26	chr11:47564400-47572600	Weak transcription	Fetal Muscle Leg	muscle
27	chr11:47564800-47573200	Weak transcription	Esophagus	oesophagus
28	chr11:47565000-47572800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr11:47565000-47573200	Weak transcription	Ovary	ovary
30	chr11:47566200-47573800	Weak transcription	Gastric	stomach
31	chr11:47567200-47572600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr11:47567800-47572800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr11:47567800-47573000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr11:47568000-47572200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr11:47568000-47572400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr11:47568200-47572000	Genic enhancers	Hela-S3	cervix
37	chr11:47568200-47572600	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr11:47568200-47572600	Enhancers	Adipose Nuclei	Adipose
39	chr11:47568200-47572800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr11:47568200-47572800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr11:47568400-47572000	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr11:47568600-47572600	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr11:47569400-47572000	Enhancers	Liver	Liver
44	chr11:47569400-47572200	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr11:47569400-47572600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr11:47569400-47572800	Enhancers	Primary B cells from cord blood	blood
47	chr11:47569600-47572000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr11:47569600-47572000	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr11:47569600-47572400	Weak transcription	Fetal Lung	lung
50	chr11:47569800-47572000	Weak transcription	Fetal Intestine Small	intestine

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