Variant report

Variant	rs606954
Chromosome Location	chr18:8348401-8348402
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11872468	0.82[EUR][1000 genomes]
rs11875736	0.82[EUR][1000 genomes]
rs16953244	1.00[CEU][hapmap];0.88[JPT][hapmap]
rs16953299	1.00[CEU][hapmap];0.89[JPT][hapmap];0.88[EUR][1000 genomes]
rs16953309	1.00[CEU][hapmap];0.89[JPT][hapmap];0.88[EUR][1000 genomes]
rs16953319	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16953329	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16953340	1.00[CEU][hapmap];0.89[JPT][hapmap];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16953349	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs2000643	1.00[CEU][hapmap]
rs2446498	1.00[CEU][hapmap];0.89[JPT][hapmap];0.82[EUR][1000 genomes]
rs2446503	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2509543	0.82[EUR][1000 genomes]
rs2509546	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35933807	0.82[EUR][1000 genomes]
rs4798629	0.82[EUR][1000 genomes]
rs57165119	0.82[EUR][1000 genomes]
rs57486401	0.82[EUR][1000 genomes]
rs58102861	0.82[EUR][1000 genomes]
rs592535	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59726215	0.88[EUR][1000 genomes]
rs598149	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs603476	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs603810	0.84[EUR][1000 genomes]
rs611709	0.86[EUR][1000 genomes]
rs613113	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs62085039	0.85[EUR][1000 genomes]
rs62085040	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62085041	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62085047	0.88[EUR][1000 genomes]
rs62085048	0.86[EUR][1000 genomes]
rs62089899	0.88[EUR][1000 genomes]
rs635416	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs652740	1.00[CEU][hapmap];0.89[JPT][hapmap]
rs653652	1.00[CEU][hapmap];0.89[JPT][hapmap];0.82[EUR][1000 genomes]
rs656568	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs665525	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs668262	1.00[CEU][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes]
rs669168	1.00[CEU][hapmap];0.89[JPT][hapmap];0.82[EUR][1000 genomes]
rs681383	1.00[CEU][hapmap];0.89[JPT][hapmap];0.82[EUR][1000 genomes]
rs685266	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs694406	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8090276	1.00[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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8320800-8357200	Weak transcription	Thymus	Thymus
2	chr18:8329600-8358200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr18:8329800-8365200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr18:8340200-8365600	Weak transcription	Psoas Muscle	Psoas
5	chr18:8341600-8348800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr18:8342000-8359200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr18:8342000-8362400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr18:8342200-8349000	Weak transcription	Hela-S3	cervix
9	chr18:8342200-8350200	Weak transcription	Fetal Muscle Leg	muscle
10	chr18:8342200-8354600	Weak transcription	Gastric	stomach
11	chr18:8342200-8354600	Weak transcription	Left Ventricle	heart
12	chr18:8342200-8355200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr18:8342200-8359600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr18:8342200-8366800	Weak transcription	Adipose Nuclei	Adipose
15	chr18:8342200-8367400	Weak transcription	Aorta	Aorta
16	chr18:8342600-8349400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr18:8342600-8349600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr18:8342600-8350400	Weak transcription	HSMMtube	muscle
19	chr18:8342600-8366400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr18:8342800-8357600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr18:8343000-8351800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr18:8343800-8349800	Weak transcription	HepG2	liver
23	chr18:8344000-8353800	Weak transcription	Right Ventricle	heart
24	chr18:8344200-8356600	Weak transcription	A549	lung
25	chr18:8344200-8367000	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr18:8345400-8358200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr18:8346400-8349800	Weak transcription	Lung	lung
28	chr18:8346400-8366800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr18:8346600-8358200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr18:8346600-8358800	Weak transcription	Ovary	ovary
31	chr18:8346800-8351000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr18:8347000-8350400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr18:8348000-8348600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr18:8348200-8348600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr18:8348200-8348600	Genic enhancers	Pancreas	Pancrea
36	chr18:8348200-8349800	Weak transcription	HMEC	breast
37	chr18:8348400-8349000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr18:8348400-8351800	Weak transcription	Fetal Stomach	stomach

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