Variant report

Variant	rs7238296
Chromosome Location	chr18:8218123-8218124
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1005034	0.82[AFR][1000 genomes]
rs1117756	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1117757	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1117758	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11659295	0.83[CHB][hapmap];0.86[LWK][hapmap]
rs12454501	0.85[AFR][1000 genomes]
rs12605453	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12607046	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12607050	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13381444	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13381650	0.83[CHB][hapmap]
rs1860963	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1860964	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2377738	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2377739	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2889716	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3935751	0.83[CHB][hapmap];0.81[AFR][1000 genomes]
rs3935752	0.83[ASW][hapmap];0.83[CHB][hapmap];0.88[LWK][hapmap];0.81[AFR][1000 genomes]
rs4399594	0.83[AFR][1000 genomes]
rs4399595	0.83[ASW][hapmap];0.83[CHB][hapmap];0.88[LWK][hapmap];0.83[AFR][1000 genomes]
rs61705599	0.85[AFR][1000 genomes]
rs7226765	0.84[AFR][1000 genomes]
rs7230057	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7238009	0.85[AFR][1000 genomes]
rs7238328	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7238408	0.83[AFR][1000 genomes]
rs7241591	0.82[CHB][hapmap];0.82[AFR][1000 genomes]
rs7241602	0.84[AFR][1000 genomes]
rs7241698	0.83[CHB][hapmap];0.83[AFR][1000 genomes]
rs7245067	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8088845	0.85[AFR][1000 genomes]
rs8091139	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8098107	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs976168	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs976169	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9956011	0.81[AFR][1000 genomes]
rs9956156	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9962248	0.83[AFR][1000 genomes]
rs9967265	0.83[CHB][hapmap];0.81[AFR][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7238296	OTOL1	trans	parietal	SCAN

Chromatin state (count:38 , 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	chr18:8213800-8219000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr18:8213800-8219600	Weak transcription	Fetal Heart	heart
14	chr18:8213800-8219600	Weak transcription	Osteobl	bone
15	chr18:8213800-8225200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr18:8213800-8226800	Weak transcription	Adipose Nuclei	Adipose
17	chr18:8214200-8238800	Weak transcription	Left Ventricle	heart
18	chr18:8216000-8219000	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr18:8216400-8218800	Enhancers	H1 Cell Line	embryonic stem cell
20	chr18:8216600-8219400	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr18:8216600-8220000	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr18:8216800-8219000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr18:8216800-8219200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr18:8216800-8222000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr18:8217000-8218400	Enhancers	Fetal Kidney	kidney
26	chr18:8217000-8219200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr18:8217200-8218600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr18:8217400-8220200	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr18:8217600-8219000	Enhancers	H9 Cell Line	embryonic stem cell
30	chr18:8217600-8219200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr18:8217600-8219400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr18:8217800-8218200	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr18:8217800-8218200	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr18:8217800-8218600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr18:8217800-8220200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr18:8217800-8257800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr18:8218000-8219000	Enhancers	Brain Germinal Matrix	brain
38	chr18:8218000-8221000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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