Variant report

Variant	rs16953299
Chromosome Location	chr18:8333662-8333663
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11872468	0.81[ASN][1000 genomes]
rs11875736	0.81[ASN][1000 genomes]
rs16953244	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16953309	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16953319	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16953329	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16953340	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16953349	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs2000643	1.00[CEU][hapmap]
rs2446498	1.00[CEU][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.81[ASN][1000 genomes]
rs2446503	0.88[EUR][1000 genomes]
rs2509543	0.81[ASN][1000 genomes]
rs2509546	0.95[EUR][1000 genomes]
rs35933807	0.81[ASN][1000 genomes]
rs4798629	0.81[ASN][1000 genomes]
rs57165119	0.81[ASN][1000 genomes]
rs57486401	0.81[ASN][1000 genomes]
rs58102861	0.81[ASN][1000 genomes]
rs592535	1.00[CEU][hapmap];0.87[CHD][hapmap];0.89[JPT][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59726215	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs598149	1.00[CEU][hapmap];0.87[CHD][hapmap];0.89[JPT][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs603371	0.83[EUR][1000 genomes]
rs603476	0.88[EUR][1000 genomes]
rs603810	0.92[EUR][1000 genomes]
rs606954	1.00[CEU][hapmap];0.89[JPT][hapmap];0.88[EUR][1000 genomes]
rs611709	0.92[EUR][1000 genomes]
rs613113	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs62085039	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62085040	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62085041	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62085047	1.00[EUR][1000 genomes]
rs62085048	0.98[EUR][1000 genomes]
rs62089873	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62089874	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62089877	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62089899	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs635416	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs652740	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs653652	1.00[CEU][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.81[ASN][1000 genomes]
rs656568	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs665525	1.00[CEU][hapmap];0.83[CHD][hapmap];0.89[JPT][hapmap];0.88[EUR][1000 genomes]
rs668262	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs669168	1.00[CEU][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.81[ASN][1000 genomes]
rs681383	1.00[CEU][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap]
rs685266	0.88[EUR][1000 genomes]
rs694406	1.00[CEU][hapmap];0.83[CHD][hapmap];0.89[JPT][hapmap];0.88[EUR][1000 genomes]
rs8090276	0.89[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
5	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
6	esv3351324	chr18:8250514-8405140	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1058445	chr18:8270681-8421249	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8294200-8341400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr18:8319800-8341600	Weak transcription	Adipose Nuclei	Adipose
3	chr18:8320400-8339400	Weak transcription	Right Ventricle	heart
4	chr18:8320800-8357200	Weak transcription	Thymus	Thymus
5	chr18:8321000-8333800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr18:8321200-8341400	Weak transcription	Lung	lung
7	chr18:8323600-8333800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr18:8325000-8334000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr18:8325800-8341200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr18:8327600-8339400	Weak transcription	Ovary	ovary
11	chr18:8327600-8339600	Weak transcription	Psoas Muscle	Psoas
12	chr18:8327800-8339400	Weak transcription	Left Ventricle	heart
13	chr18:8328000-8342600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr18:8329000-8341400	Weak transcription	Fetal Stomach	stomach
15	chr18:8329000-8341400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr18:8329600-8337400	Weak transcription	Fetal Heart	heart
17	chr18:8329600-8340400	Weak transcription	HSMMtube	muscle
18	chr18:8329600-8358200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr18:8329800-8337400	Weak transcription	Stomach Mucosa	stomach
20	chr18:8329800-8365200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr18:8330000-8337200	Weak transcription	A549	lung
22	chr18:8330400-8339400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr18:8330400-8341600	Weak transcription	Fetal Muscle Leg	muscle
24	chr18:8330600-8341400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr18:8332000-8341400	Weak transcription	Fetal Intestine Small	intestine

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