Variant report

Variant	rs7046502
Chromosome Location	chr9:18458569-18458570
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1006022	0.85[EUR][1000 genomes]
rs10453192	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10733354	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10738511	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10756963	0.95[ASN][1000 genomes]
rs10756964	0.99[ASN][1000 genomes]
rs10810969	0.87[ASN][1000 genomes]
rs10810971	0.99[ASN][1000 genomes]
rs10810973	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11793923	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1281352	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1329721	0.92[ASN][1000 genomes]
rs1340039	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1340040	0.90[ASN][1000 genomes]
rs1340042	0.97[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs1340043	0.95[ASN][1000 genomes]
rs1417035	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1417037	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1538999	0.83[EUR][1000 genomes]
rs1576383	0.97[ASN][1000 genomes]
rs1888068	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1888069	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2149875	0.84[EUR][1000 genomes]
rs2153414	0.97[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2153415	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2153416	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2277160	0.82[EUR][1000 genomes]
rs3898100	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4246142	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4246143	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4590536	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4961651	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4961652	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6475216	0.92[ASN][1000 genomes]
rs6475218	0.87[ASN][1000 genomes]
rs6475219	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6475220	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6475221	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7019399	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7032393	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7036515	0.85[EUR][1000 genomes]
rs7856703	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7867766	0.82[AMR][1000 genomes];0.95[EUR][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	nsv831522	chr9:18231982-18459492	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv491807	chr9:18243672-19009770	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv525659	chr9:18288212-19009041	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv1019127	chr9:18288271-18996288	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv892688	chr9:18385143-18551247	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv1029449	chr9:18414752-18829127	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv540077	chr9:18414752-18829127	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv1030931	chr9:18414752-18903530	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18456600-18458600	Weak transcription	Fetal Intestine Small	intestine
2	chr9:18456800-18458800	Enhancers	NHDF-Ad	bronchial
3	chr9:18456800-18459600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr9:18456800-18459800	Enhancers	HUVEC	blood vessel
5	chr9:18457000-18459800	Enhancers	NHEK	skin
6	chr9:18457200-18459000	Weak transcription	Fetal Intestine Large	intestine
7	chr9:18457200-18461600	Enhancers	HMEC	breast
8	chr9:18457600-18458600	Weak transcription	Hela-S3	cervix
9	chr9:18457600-18460400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr9:18457800-18459400	Weak transcription	NH-A	brain
11	chr9:18457800-18463800	Weak transcription	NHLF	lung
12	chr9:18458000-18459200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr9:18458000-18459200	Weak transcription	Osteobl	bone
14	chr9:18458000-18459400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr9:18458000-18459600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr9:18458000-18463800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr9:18458200-18459200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr9:18458200-18459200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr9:18458200-18459400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr9:18458200-18460200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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