Variant report

Variant	rs12954218
Chromosome Location	chr18:8220448-8220449
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12454998	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12457777	0.93[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12458952	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12954264	1.00[CHB][hapmap]
rs12954626	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12955310	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12965261	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12965927	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12968127	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4410143	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534374	chr18:7438812-8412546	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv458018	chr18:8110805-8645907	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv576426	chr18:8110805-8645907	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers 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 target site	23 gene(s)	inside rSNPs	diseases
4	nsv458021	chr18:8193657-8227344	ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv470407	chr18:8193657-8227344	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv576428	chr18:8193657-8227344	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1057288	chr18:8218725-8351340	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv543639	chr18:8218725-8351340	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8170800-8225400	Weak transcription	Aorta	Aorta
2	chr18:8178000-8230000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr18:8191200-8288600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr18:8194600-8225600	Weak transcription	Psoas Muscle	Psoas
5	chr18:8199400-8225400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr18:8205600-8225600	Weak transcription	Lung	lung
7	chr18:8208600-8224200	Weak transcription	A549	lung
8	chr18:8211600-8265000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr18:8213000-8229600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr18:8213400-8225400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr18:8213400-8233000	Weak transcription	Fetal Thymus	thymus
12	chr18:8213800-8225200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr18:8213800-8226800	Weak transcription	Adipose Nuclei	Adipose
14	chr18:8214200-8238800	Weak transcription	Left Ventricle	heart
15	chr18:8216800-8222000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr18:8217800-8257800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr18:8218000-8221000	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr18:8218200-8224600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr18:8219000-8224000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr18:8219000-8225400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr18:8219200-8225400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr18:8219600-8220600	Enhancers	Fetal Heart	heart
23	chr18:8219600-8220600	Enhancers	Osteobl	bone
24	chr18:8219600-8220800	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr18:8220000-8221000	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr18:8220000-8225600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr18:8220000-8225600	Weak transcription	Pancreas	Pancrea
28	chr18:8220200-8220600	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr18:8220200-8220600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr18:8220200-8220800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr18:8220200-8222000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr18:8220200-8231000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr18:8220400-8220600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr18:8220400-8220800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr18:8220400-8222400	Enhancers	Colon Smooth Muscle	Colon

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