Variant report

Variant	rs9304103
Chromosome Location	chr18:29172037-29172038
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1449083	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1620287	0.86[AMR][1000 genomes]
rs1631020	0.95[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1667238	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1667241	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1667243	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1667245	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1667246	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1667250	0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1667251	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1667252	0.90[ASN][1000 genomes]
rs1667253	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1791186	1.00[ASN][1000 genomes]
rs1791187	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1791188	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1791191	1.00[ASN][1000 genomes]
rs1791227	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2704059	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2704061	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58114875	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9947284	0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066692	chr18:28856066-29190505	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv543674	chr18:28856066-29190505	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv833615	chr18:29008396-29192976	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv576636	chr18:29146822-29190174	Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1066881	chr18:29149752-29180840	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29167200-29175000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr18:29168800-29172600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr18:29171600-29172200	Active TSS	HepG2	liver
4	chr18:29171600-29172400	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr18:29171800-29172800	Active TSS	Fetal Intestine Small	intestine
6	chr18:29171800-29173000	Active TSS	Fetal Intestine Large	intestine
7	chr18:29171800-29173200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr18:29171800-29178400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr18:29172000-29172200	Flanking Active TSS	Liver	Liver
10	chr18:29172000-29176200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr18:29172000-29176200	Weak transcription	Pancreas	Pancrea

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