Variant report

Variant	rs2034404
Chromosome Location	chr18:29156302-29156303
allele	A/G
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:30)

rs_ID	r²[population]
rs11081702	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11659687	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11662311	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11664321	0.82[EUR][1000 genomes]
rs1375445	0.99[EUR][1000 genomes]
rs1375446	0.84[EUR][1000 genomes]
rs1473342	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1667237	0.83[EUR][1000 genomes]
rs1667239	0.99[EUR][1000 genomes]
rs1667244	0.81[EUR][1000 genomes]
rs1667254	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1667257	0.88[EUR][1000 genomes]
rs17660933	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17740847	0.89[ASN][1000 genomes]
rs1791200	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2420813	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2704058	0.84[EUR][1000 genomes]
rs3764476	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3764478	0.82[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs3764479	0.91[CEU][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.93[MKK][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3794884	0.91[CEU][hapmap];0.94[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4799579	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4799581	0.81[EUR][1000 genomes]
rs4799585	0.81[ASN][1000 genomes]
rs6506932	0.82[EUR][1000 genomes]
rs7235277	0.91[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs723744	0.91[CEU][hapmap];0.94[CHB][hapmap];0.83[CHD][hapmap];0.84[JPT][hapmap];0.98[TSI][hapmap];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7238749	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7243588	0.81[EUR][1000 genomes]
rs735329	0.91[EUR][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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29146600-29156600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr18:29151600-29157600	Enhancers	Fetal Intestine Large	intestine
3	chr18:29152000-29157400	Enhancers	HepG2	liver
4	chr18:29153600-29161400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr18:29154600-29156800	Weak transcription	Fetal Intestine Small	intestine
6	chr18:29154800-29161000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr18:29155400-29156600	Flanking Active TSS	Liver	Liver
8	chr18:29155800-29156400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr18:29156000-29156400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr18:29156000-29157000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr18:29156000-29157200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr18:29156200-29156800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr18:29156200-29157200	Enhancers	Primary hematopoietic stem cells	blood
14	chr18:29156200-29157400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr18:29156200-29161600	Weak transcription	NHEK	skin

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