Variant report

Variant	rs10769263
Chromosome Location	chr11:47417183-47417184
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:47416151..47418895-chr11:47586699..47588478,2	MCF-7	breast:
2	chr11:47395359..47404298-chr11:47408556..47417905,22	K562	blood:
3	chr11:47411629..47418031-chr11:47425327..47431880,15	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPI1-1	chr11:47417041-47417191	ENSG00000255197.1

Variant related genes	Relation type
ENSG00000110536	Chromatin interaction
ENSG00000255197	Chromatin interaction
ENSG00000149187	Chromatin interaction
ENSG00000165915	Chromatin interaction
ENSG00000066336	Chromatin interaction
ENSG00000213619	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10437655	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10742802	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10769264	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10838702	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10838705	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10838709	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11039221	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11039225	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11606287	0.89[EUR][1000 genomes]
rs12292911	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1377416	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1534576	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2278890	0.86[EUR][1000 genomes]
rs2293576	0.85[ASN][1000 genomes]
rs2293579	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34937994	0.82[EUR][1000 genomes]
rs35032070	0.89[EUR][1000 genomes]
rs3758675	0.86[EUR][1000 genomes]
rs3824869	0.80[EUR][1000 genomes]
rs4434960	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61897431	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7103648	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7104036	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7947450	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs874896	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs896817	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv917316	chr11:47232210-47448882	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	esv3330173	chr11:47289256-47450681	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	esv3416377	chr11:47289276-47450651	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	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
6	nsv825871	chr11:47376020-47457537	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv554210	chr11:47380593-47449544	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
8	nsv541034	chr11:47404083-47440081	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
9	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
10	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10769263	FNBP4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47399400-47421400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr11:47399800-47421200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr11:47400000-47421200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr11:47408400-47418000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr11:47409200-47417800	Enhancers	Spleen	Spleen
6	chr11:47409800-47417600	Enhancers	Fetal Muscle Leg	muscle
7	chr11:47410200-47421200	Weak transcription	Fetal Intestine Small	intestine
8	chr11:47412400-47417800	Enhancers	Fetal Muscle Trunk	muscle
9	chr11:47412600-47417800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:47413000-47417800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr11:47414200-47417800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr11:47414400-47417600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr11:47414400-47417800	Enhancers	Lung	lung
14	chr11:47414600-47417600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
15	chr11:47414600-47417800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr11:47414600-47421200	Weak transcription	Stomach Mucosa	stomach
17	chr11:47414800-47417600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr11:47415000-47417600	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr11:47415000-47417600	Enhancers	HUVEC	blood vessel
20	chr11:47415200-47417200	Enhancers	Right Ventricle	heart
21	chr11:47415200-47421200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:47415400-47417400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr11:47415400-47419400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr11:47415400-47419600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr11:47415400-47421200	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr11:47415400-47421400	Weak transcription	Right Atrium	heart
27	chr11:47415600-47417400	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr11:47415600-47419800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr11:47415600-47421400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:47415800-47417200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr11:47415800-47417200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
32	chr11:47415800-47417400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr11:47416000-47417200	Flanking Active TSS	Primary B cells from peripheral blood	blood
34	chr11:47416000-47417200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
35	chr11:47416000-47417400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
36	chr11:47416000-47417400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
37	chr11:47416200-47417400	Weak transcription	Gastric	stomach
38	chr11:47416200-47417600	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr11:47416200-47419800	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr11:47416200-47420000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr11:47416200-47421400	Weak transcription	Liver	Liver
42	chr11:47416400-47417400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr11:47416400-47417800	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr11:47416400-47417800	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr11:47416400-47422000	Weak transcription	HSMM	muscle
46	chr11:47416600-47417200	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr11:47416600-47417200	Flanking Active TSS	Colonic Mucosa	Colon
48	chr11:47416600-47417200	Flanking Active TSS	Placenta	Placenta
49	chr11:47416600-47417200	Enhancers	Stomach Smooth Muscle	stomach
50	chr11:47416600-47419600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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