Variant report

Variant	rs11039229
Chromosome Location	chr11:47438631-47438632
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:47437388..47439082-chr11:47574620..47576834,2	MCF-7	breast:
2	chr11:47437766..47440178-chr11:47611290..47614195,2	K562	blood:
3	chr11:46631023..46632699-chr11:47437106..47439658,2	K562	blood:

Variant related genes	Relation type
ENSG00000172247	Chromatin interaction
ENSG00000149187	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11039213	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11570119	1.00[AMR][1000 genomes]
rs12099130	1.00[AMR][1000 genomes]
rs12099427	1.00[AMR][1000 genomes]
rs2010519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2019870	0.97[AFR][1000 genomes]
rs2053978	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2176403	1.00[AMR][1000 genomes]
rs34037785	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35976340	1.00[AMR][1000 genomes]
rs4647717	1.00[AMR][1000 genomes]
rs4647745	1.00[AMR][1000 genomes]
rs57572703	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58880275	1.00[AMR][1000 genomes]
rs59693089	1.00[AMR][1000 genomes]
rs59726655	1.00[AMR][1000 genomes]
rs60183400	1.00[AMR][1000 genomes]
rs60580032	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7123107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7950077	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs896814	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs908597	1.00[AMR][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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47431000-47439200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:47431000-47440000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr11:47431000-47442000	Weak transcription	Primary B cells from cord blood	blood
4	chr11:47431200-47439000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr11:47431200-47439800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr11:47431200-47440600	Weak transcription	Small Intestine	intestine
7	chr11:47431200-47447200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr11:47431400-47440400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr11:47431600-47439000	Weak transcription	K562	blood
10	chr11:47431600-47439600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr11:47431600-47439800	Weak transcription	GM12878-XiMat	blood
12	chr11:47431600-47440200	Genic enhancers	Right Ventricle	heart
13	chr11:47431600-47440400	Weak transcription	Fetal Kidney	kidney
14	chr11:47431600-47446400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr11:47431800-47438800	Genic enhancers	Fetal Muscle Leg	muscle
16	chr11:47431800-47440400	Genic enhancers	Placenta	Placenta
17	chr11:47431800-47440800	Genic enhancers	Fetal Muscle Trunk	muscle
18	chr11:47432200-47446400	Strong transcription	Thymus	Thymus
19	chr11:47432400-47440800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr11:47432400-47445800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr11:47432400-47446400	Weak transcription	Fetal Brain Male	brain
22	chr11:47432600-47445800	Strong transcription	Brain Anterior Caudate	brain
23	chr11:47432600-47446400	Strong transcription	Fetal Brain Female	brain
24	chr11:47432800-47446000	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr11:47432800-47446200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr11:47432800-47446400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr11:47433200-47446200	Strong transcription	Fetal Thymus	thymus
28	chr11:47433400-47445800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr11:47434200-47445600	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr11:47434800-47446000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:47435000-47439800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr11:47435000-47440000	Genic enhancers	Osteobl	bone
33	chr11:47435000-47440600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr11:47435000-47440800	Genic enhancers	NHLF	lung
35	chr11:47435000-47446000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr11:47435000-47446200	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr11:47435000-47446200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr11:47435000-47446600	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr11:47435200-47445800	Strong transcription	Liver	Liver
40	chr11:47435200-47446000	Strong transcription	Primary B cells from peripheral blood	blood
41	chr11:47435200-47446400	Strong transcription	Primary T cells from cord blood	blood
42	chr11:47435800-47439600	Enhancers	Fetal Heart	heart
43	chr11:47436000-47439200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr11:47436000-47439400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr11:47436000-47439400	Weak transcription	HepG2	liver
46	chr11:47436000-47439600	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr11:47436000-47440000	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr11:47436000-47440200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr11:47436000-47441000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr11:47436200-47439200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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