Variant report

Variant	rs45478798
Chromosome Location	chr11:45685319-45685320
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11826638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11827784	0.82[AFR][1000 genomes]
rs1562461	0.83[AFR][1000 genomes]
rs2028985	0.82[AFR][1000 genomes]
rs41372752	0.92[AFR][1000 genomes]
rs45460198	0.92[AFR][1000 genomes]
rs45490494	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs45525032	0.86[AFR][1000 genomes]
rs45554232	0.97[AFR][1000 genomes]
rs4756014	0.82[AFR][1000 genomes]
rs895718	0.91[AFR][1000 genomes]
rs895730	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897311	chr11:45663568-45691118	Bivalent Enhancer Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv897312	chr11:45663568-45699134	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv897313	chr11:45670395-45699134	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv467870	chr11:45684557-45757401	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
5	nsv554199	chr11:45684557-45757401	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45679600-45685400	Enhancers	Ovary	ovary
2	chr11:45680000-45688000	Enhancers	Fetal Brain Male	brain
3	chr11:45680200-45686000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:45681600-45685600	Weak transcription	Right Atrium	heart
5	chr11:45682000-45686200	Flanking Active TSS	Fetal Brain Female	brain
6	chr11:45682400-45686600	Bivalent Enhancer	Fetal Lung	lung
7	chr11:45682800-45685800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
8	chr11:45682800-45685800	Bivalent Enhancer	Fetal Stomach	stomach
9	chr11:45682800-45685800	Enhancers	Lung	lung
10	chr11:45683000-45686200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:45683400-45685600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:45683400-45685600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
13	chr11:45683400-45686000	Bivalent Enhancer	Placenta	Placenta
14	chr11:45683400-45686200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr11:45683600-45685800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
16	chr11:45683800-45685600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
17	chr11:45683800-45685800	Enhancers	A549	lung
18	chr11:45684000-45685400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
19	chr11:45684000-45685600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:45684000-45685800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr11:45684200-45685600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:45684200-45685600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr11:45684200-45685600	Flanking Active TSS	Brain Germinal Matrix	brain
24	chr11:45684200-45685800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr11:45684200-45685800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr11:45684200-45685800	Bivalent Enhancer	Fetal Intestine Small	intestine
27	chr11:45684200-45686200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:45684200-45686400	Flanking Active TSS	HUVEC	blood vessel
29	chr11:45684400-45685400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
30	chr11:45684400-45685400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr11:45684400-45685400	Bivalent Enhancer	Fetal Kidney	kidney
32	chr11:45684400-45685600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
33	chr11:45684400-45685600	Active TSS	Brain Cingulate Gyrus	brain
34	chr11:45684400-45685600	Bivalent Enhancer	Brain Substantia Nigra	brain
35	chr11:45684400-45685600	Bivalent Enhancer	Fetal Intestine Large	intestine
36	chr11:45684400-45685600	Bivalent Enhancer	HSMMtube	muscle
37	chr11:45684400-45685600	Bivalent Enhancer	NHDF-Ad	bronchial
38	chr11:45684400-45686200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr11:45684400-45686200	Enhancers	Placenta Amnion	Placenta Amnion
40	chr11:45684400-45686200	Bivalent Enhancer	NHLF	lung
41	chr11:45684600-45685400	Enhancers	Gastric	stomach
42	chr11:45684600-45685400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
43	chr11:45684600-45685800	Active TSS	Brain Angular Gyrus	brain
44	chr11:45684600-45686000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr11:45684600-45686600	Bivalent Enhancer	Fetal Thymus	thymus
46	chr11:45684800-45685400	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr11:45684800-45685600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr11:45684800-45685600	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr11:45684800-45685800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr11:45684800-45685800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell

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