Variant report

Variant	rs1667255
Chromosome Location	chr18:29187279-29187280
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1080093	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[YRI][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1080094	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1375446	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1473342	0.82[EUR][1000 genomes]
rs1611949	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1616887	0.81[AMR][1000 genomes]
rs1667237	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1667244	0.82[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.84[CHD][hapmap];0.96[GIH][hapmap];0.96[MEX][hapmap];0.96[TSI][hapmap];0.81[YRI][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1667254	0.83[EUR][1000 genomes]
rs1667257	0.85[EUR][1000 genomes]
rs1667258	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1791197	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1791198	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1791199	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1791200	0.85[EUR][1000 genomes]
rs1791201	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1791228	0.82[ASN][1000 genomes]
rs1791229	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2704058	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3764476	0.84[CEU][hapmap]
rs3764479	0.84[CEU][hapmap]
rs3794884	0.84[CEU][hapmap];0.80[EUR][1000 genomes]
rs4799581	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4799583	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6506932	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7235277	0.84[CEU][hapmap]
rs723744	0.84[CEU][hapmap];0.81[CHB][hapmap];0.94[JPT][hapmap]
rs7243588	0.91[EUR][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	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

Variant related diseases (count:1)

Disease	PMID	Source
Retinol levels	21878437	GWAS catalog

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29180800-29191000	Weak transcription	Fetal Intestine Large	intestine
2	chr18:29185400-29191800	Enhancers	HepG2	liver
3	chr18:29186600-29187400	Weak transcription	Pancreas	Pancrea
4	chr18:29186600-29190200	Weak transcription	Fetal Intestine Small	intestine
5	chr18:29186800-29191200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr18:29187200-29187600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr18:29187200-29188400	Enhancers	Liver	Liver

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