Variant report

Variant	rs12955310
Chromosome Location	chr18:8216480-8216481
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
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];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12457777	0.93[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12458952	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12954218	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]
rs12954264	0.85[CHB][hapmap]
rs12954626	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12965261	0.93[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]
rs12965927	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12968127	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4410143	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:30 , 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	chr18:8181400-8216800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr18:8191200-8288600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr18:8194600-8225600	Weak transcription	Psoas Muscle	Psoas
6	chr18:8199400-8225400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr18:8205600-8225600	Weak transcription	Lung	lung
8	chr18:8208600-8224200	Weak transcription	A549	lung
9	chr18:8210400-8217200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr18:8211600-8265000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr18:8211800-8216800	Weak transcription	Ovary	ovary
12	chr18:8212400-8218000	Weak transcription	Brain Germinal Matrix	brain
13	chr18:8213000-8229600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr18:8213400-8225400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr18:8213400-8233000	Weak transcription	Fetal Thymus	thymus
16	chr18:8213600-8216800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr18:8213600-8216800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr18:8213600-8217200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr18:8213800-8219000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr18:8213800-8219600	Weak transcription	Fetal Heart	heart
21	chr18:8213800-8219600	Weak transcription	Osteobl	bone
22	chr18:8213800-8225200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr18:8213800-8226800	Weak transcription	Adipose Nuclei	Adipose
24	chr18:8214200-8238800	Weak transcription	Left Ventricle	heart
25	chr18:8215400-8217000	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr18:8215800-8216600	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr18:8216000-8217200	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr18:8216000-8217200	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr18:8216000-8219000	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr18:8216400-8218800	Enhancers	H1 Cell Line	embryonic stem cell

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