Variant report

Variant	rs723744
Chromosome Location	chr18:29172476-29172477
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1080093	0.84[CEU][hapmap];0.84[EUR][1000 genomes]
rs1080094	0.84[EUR][1000 genomes]
rs11081702	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11659687	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11662311	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11664321	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1375445	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1473342	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1667239	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1667244	0.84[CEU][hapmap];0.81[TSI][hapmap];0.82[EUR][1000 genomes]
rs1667254	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1667257	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17660933	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17740847	0.84[ASN][1000 genomes]
rs1791200	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1791201	0.80[EUR][1000 genomes]
rs1791229	0.80[EUR][1000 genomes]
rs2034404	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2420813	0.97[EUR][1000 genomes]
rs3764476	1.00[CEU][hapmap];0.85[CHB][hapmap];0.88[CHD][hapmap];0.84[JPT][hapmap];0.98[TSI][hapmap];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3764478	0.85[CHD][hapmap];0.84[JPT][hapmap];0.87[ASN][1000 genomes]
rs3764479	1.00[CEU][hapmap];0.85[CHB][hapmap];0.83[CHD][hapmap];0.84[JPT][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3794884	1.00[CEU][hapmap];0.85[CHB][hapmap];0.85[CHD][hapmap];0.83[JPT][hapmap];0.98[TSI][hapmap];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4799579	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4799581	0.83[EUR][1000 genomes]
rs4799583	0.80[EUR][1000 genomes]
rs6506932	0.82[EUR][1000 genomes]
rs7235277	1.00[CEU][hapmap];0.85[CHB][hapmap];0.84[JPT][hapmap];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7238749	0.91[EUR][1000 genomes]
rs7243588	0.82[EUR][1000 genomes]
rs735329	0.87[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	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:13 , 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	chr18:29171800-29172800	Active TSS	Fetal Intestine Small	intestine
4	chr18:29171800-29173000	Active TSS	Fetal Intestine Large	intestine
5	chr18:29171800-29173200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr18:29171800-29178400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr18:29172000-29176200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr18:29172000-29176200	Weak transcription	Pancreas	Pancrea
9	chr18:29172200-29172600	Active TSS	Liver	Liver
10	chr18:29172200-29172800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr18:29172200-29172800	Flanking Active TSS	HepG2	liver
12	chr18:29172400-29173000	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr18:29172400-29174200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet

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