Variant report

Variant	rs1667243
Chromosome Location	chr18:29158860-29158861
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	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1620287	1.00[AMR][1000 genomes]
rs1631020	0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1667238	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1667241	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1667245	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1667246	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1667250	0.95[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1667251	0.90[ASN][1000 genomes]
rs1667252	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1667253	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1791186	1.00[ASN][1000 genomes]
rs1791187	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1791188	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1791191	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1791227	0.90[ASN][1000 genomes]
rs2704059	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2704061	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58114875	0.90[ASN][1000 genomes]
rs9304103	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9947284	1.00[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	nsv916545	chr18:28898800-29166364	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29153600-29161400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr18:29154800-29161000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr18:29156200-29161600	Weak transcription	NHEK	skin
4	chr18:29156400-29163200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr18:29157000-29159200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr18:29157200-29159200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr18:29157200-29159400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr18:29157400-29159200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr18:29158000-29162400	Enhancers	Fetal Intestine Large	intestine
10	chr18:29158200-29160000	Enhancers	Fetal Intestine Small	intestine
11	chr18:29158600-29160200	Weak transcription	Liver	Liver
12	chr18:29158800-29160800	Weak transcription	HepG2	liver

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