Variant report

Variant	rs1667250
Chromosome Location	chr18:29177156-29177157
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1449083	0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1620287	0.95[AMR][1000 genomes]
rs1631020	0.95[AMR][1000 genomes]
rs1667238	0.95[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1667241	0.95[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1667243	0.95[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1667245	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1667246	0.95[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1667251	0.90[ASN][1000 genomes]
rs1667252	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1667253	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1791186	0.81[ASN][1000 genomes]
rs1791187	0.95[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1791188	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1791191	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1791227	0.90[ASN][1000 genomes]
rs2704059	0.95[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2704061	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs58114875	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9304103	0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9947284	0.95[AMR][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	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
6	nsv909519	chr18:29172865-29330214	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29171800-29178400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr18:29175000-29178800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr18:29176600-29177400	Weak transcription	NHDF-Ad	bronchial
4	chr18:29176600-29180200	Strong transcription	Liver	Liver
5	chr18:29176800-29178200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr18:29176800-29180800	Strong transcription	HepG2	liver
7	chr18:29177000-29178200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr18:29177000-29179200	Strong transcription	Fetal Intestine Small	intestine
9	chr18:29177000-29180800	Strong transcription	Fetal Intestine Large	intestine

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