Variant report

Variant	rs11039464
Chromosome Location	chr11:47962298-47962299
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11039467	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1997308	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6485795	0.84[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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47950400-47963600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr11:47950800-47971800	Weak transcription	Fetal Thymus	thymus
3	chr11:47954400-47968200	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr11:47956800-47970200	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr11:47957800-47963400	Weak transcription	Primary B cells from peripheral blood	blood
6	chr11:47958800-47962400	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr11:47959800-47962600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr11:47959800-47963400	Enhancers	A549	lung
9	chr11:47959800-47968800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:47960000-47963000	Weak transcription	Brain Substantia Nigra	brain
11	chr11:47960000-47965400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr11:47960000-47966000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr11:47960000-47967600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr11:47960000-47967800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:47960000-47967800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr11:47960000-47972400	Weak transcription	Lung	lung
17	chr11:47960200-47963200	Weak transcription	Primary B cells from cord blood	blood
18	chr11:47960400-47962600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:47960600-47962400	Weak transcription	Liver	Liver
20	chr11:47960600-47962600	Weak transcription	HepG2	liver
21	chr11:47960600-47963200	Weak transcription	Placenta	Placenta
22	chr11:47960600-47963200	Weak transcription	GM12878-XiMat	blood
23	chr11:47960800-47962600	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr11:47960800-47963000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:47960800-47963400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr11:47960800-47965800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr11:47961200-47965600	Weak transcription	NH-A	brain
28	chr11:47961400-47962600	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr11:47961400-47964400	Enhancers	Hela-S3	cervix
30	chr11:47961400-47965600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr11:47961400-47965600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr11:47961400-47965600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr11:47961400-47965800	Weak transcription	NHDF-Ad	bronchial
34	chr11:47961400-47965800	Weak transcription	NHLF	lung
35	chr11:47961400-47965800	Weak transcription	Osteobl	bone
36	chr11:47961800-47963000	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr11:47961800-47965600	Weak transcription	HUVEC	blood vessel
38	chr11:47962200-47962600	Weak transcription	K562	blood

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