Variant report

Variant	rs11039468
Chromosome Location	chr11:47966131-47966132
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:47931798..47934604-chr11:47964114..47966502,2	K562	blood:
2	chr11:47964794..47968609-chr11:48000698..48003518,3	MCF-7	breast:
3	chr11:47882484..47885060-chr11:47964831..47967242,2	K562	blood:
4	chr11:47964249..47967260-chr11:47967441..47970649,3	K562	blood:
5	chr11:47964759..47967260-chr11:47968299..47969907,3	K562	blood:
6	chr11:47964394..47966332-chr11:47982936..47984660,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000149177	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11039413	1.00[AFR][1000 genomes]
rs11039462	1.00[AFR][1000 genomes]
rs12225433	1.00[AFR][1000 genomes]
rs2046378	1.00[AFR][1000 genomes]
rs2904128	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052397	chr11:47675470-48594256	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv530620	chr11:47765455-48664555	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
3	nsv1036992	chr11:47794621-48666024	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv897326	chr11:47891334-48035474	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1036451	chr11:47902321-48616646	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv541037	chr11:47902321-48616646	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv1047490	chr11:47916708-48388686	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1044266	chr11:47929586-48276132	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv541038	chr11:47929586-48276132	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47950800-47971800	Weak transcription	Fetal Thymus	thymus
2	chr11:47954400-47968200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr11:47956800-47970200	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr11:47959800-47968800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:47960000-47967600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr11:47960000-47967800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:47960000-47967800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr11:47960000-47972400	Weak transcription	Lung	lung
9	chr11:47964000-47968400	Weak transcription	Primary B cells from peripheral blood	blood
10	chr11:47964000-47968400	Weak transcription	GM12878-XiMat	blood
11	chr11:47964000-47972200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr11:47964200-47968400	Weak transcription	Placenta	Placenta
13	chr11:47964400-47967400	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr11:47964400-47967400	Weak transcription	Primary B cells from cord blood	blood
15	chr11:47964400-47967400	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr11:47964400-47968800	Weak transcription	Right Atrium	heart
17	chr11:47964600-47968600	Weak transcription	Liver	Liver
18	chr11:47965400-47966600	Flanking Active TSS	K562	blood
19	chr11:47965600-47966200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:47965600-47966200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr11:47965600-47966200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr11:47965600-47966200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr11:47965600-47966200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr11:47965600-47966200	Enhancers	Placenta Amnion	Placenta Amnion
25	chr11:47965600-47966200	Flanking Active TSS	Hela-S3	cervix
26	chr11:47965600-47966400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr11:47965600-47966400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr11:47965600-47966400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr11:47965600-47966400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr11:47965600-47966400	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr11:47965600-47966400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr11:47965600-47966600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr11:47965600-47966600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr11:47965600-47966600	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr11:47965600-47966600	Enhancers	HUVEC	blood vessel
36	chr11:47965600-47966600	Enhancers	NH-A	brain
37	chr11:47965800-47966200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
38	chr11:47965800-47966200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:47965800-47966200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr11:47965800-47966200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr11:47965800-47966200	Enhancers	Stomach Mucosa	stomach
42	chr11:47965800-47966400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr11:47965800-47966400	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr11:47965800-47966400	Flanking Active TSS	A549	lung
45	chr11:47965800-47966400	Enhancers	NHDF-Ad	bronchial
46	chr11:47965800-47966400	Enhancers	NHLF	lung
47	chr11:47965800-47966600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr11:47965800-47966600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr11:47965800-47966600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr11:47965800-47966600	Enhancers	Muscle Satellite Cultured Cells	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links