Variant report

Variant	rs12184411
Chromosome Location	chr11:10473170-10473171
allele	A/G
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	EP300	chr11:10473094-10473318	GM12878	blood:	n/a	n/a
2	EBF1	chr11:10472912-10473273	GM12878	blood:	n/a	chr11:10473147-10473160 chr11:10473149-10473158 chr11:10473149-10473159 chr11:10473148-10473159 chr11:10473149-10473158
3	EBF1	chr11:10472732-10473387	GM12878	blood:	n/a	chr11:10473147-10473160 chr11:10473149-10473158 chr11:10473149-10473159 chr11:10473148-10473159 chr11:10473149-10473158
4	CTCF	chr11:10473120-10473270	HRPEpiC	eye:	n/a	n/a
5	CTCF	chr11:10473140-10473290	GM12873	blood:	n/a	n/a
6	SPI1	chr11:10473063-10473386	GM12891	blood:	n/a	n/a
7	CTCF	chr11:10473100-10473250	HepG2	liver:	n/a	n/a
8	BHLHE40	chr11:10473141-10473311	GM12878	blood:	n/a	n/a
9	SPI1	chr11:10473069-10473308	GM12891	blood:	n/a	n/a
10	MXI1	chr11:10473079-10473187	GM12878	blood:	n/a	n/a
11	EBF1	chr11:10472930-10473298	GM12878	blood:	n/a	chr11:10473147-10473160 chr11:10473149-10473158 chr11:10473149-10473159 chr11:10473148-10473159 chr11:10473149-10473158
12	CTCF	chr11:10473120-10473270	GM12864	blood:	n/a	n/a
13	CTCF	chr11:10473100-10473250	GM12866	blood:	n/a	n/a
14	RUNX3	chr11:10472994-10473300	GM12878	blood:	n/a	n/a
15	CUX1	chr11:10473049-10473199	GM12878	blood:	n/a	n/a
16	SPI1	chr11:10473019-10473355	GM12878	blood:	n/a	n/a
17	MAX	chr11:10473093-10473316	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:10470733..10474944-chr11:10476648..10480616,5	MCF-7	breast:
2	chr11:10466561..10468211-chr11:10473032..10475120,2	K562	blood:

Variant related genes	Relation type
AMPD3	TF binding region
ENSG00000133805	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10840416	0.85[ASN][1000 genomes]
rs10840417	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11042825	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35815414	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4909928	0.88[ASN][1000 genomes]
rs4909929	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4909933	0.89[AMR][1000 genomes]
rs4909934	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4910140	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7107698	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7109334	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7110563	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7123980	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7124144	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72856182	0.85[AMR][1000 genomes]
rs7934278	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7937289	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv896990	chr11:10458596-10514707	Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv3370994	chr11:10471201-10473749	Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10471400-10473600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr11:10471600-10473200	Active TSS	H9 Cell Line	embryonic stem cell
3	chr11:10471600-10473200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr11:10471600-10473200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr11:10471600-10473200	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr11:10471600-10474000	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr11:10471800-10473200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
8	chr11:10471800-10473200	Flanking Active TSS	HMEC	breast
9	chr11:10471800-10473400	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr11:10471800-10474400	Flanking Active TSS	NHEK	skin
11	chr11:10472000-10473200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr11:10472000-10473200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
13	chr11:10472000-10473200	Bivalent Enhancer	Fetal Brain Male	brain
14	chr11:10472000-10473200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
15	chr11:10472000-10473400	Active TSS	Hela-S3	cervix
16	chr11:10472200-10473200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:10472200-10473200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr11:10472200-10473200	Active TSS	Aorta	Aorta
19	chr11:10472400-10473200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
20	chr11:10472400-10473200	Bivalent/Poised TSS	Thymus	Thymus
21	chr11:10472400-10473200	Bivalent/Poised TSS	HepG2	liver
22	chr11:10472600-10473200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
23	chr11:10472600-10473200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
24	chr11:10472600-10473200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
25	chr11:10472600-10473200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
26	chr11:10472600-10473200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr11:10472600-10473200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr11:10472600-10473200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
29	chr11:10472600-10473200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
30	chr11:10472600-10473200	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr11:10472600-10473200	Enhancers	Fetal Heart	heart
32	chr11:10472600-10473200	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
33	chr11:10472600-10473200	Flanking Active TSS	Pancreas	Pancrea
34	chr11:10472600-10473200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
35	chr11:10472600-10473400	Flanking Active TSS	Primary B cells from peripheral blood	blood
36	chr11:10472600-10473400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr11:10472600-10473600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr11:10472600-10473600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr11:10472600-10473600	Flanking Active TSS	Brain Anterior Caudate	brain
40	chr11:10472600-10473600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr11:10472600-10474200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr11:10472800-10473200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
43	chr11:10472800-10473200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
44	chr11:10472800-10473200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
45	chr11:10472800-10473200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr11:10472800-10473200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr11:10472800-10473200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr11:10472800-10473200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr11:10472800-10473200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr11:10472800-10473200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links