Variant report

Variant	rs4388869
Chromosome Location	chr11:18843018-18843019
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11024798	0.82[ASN][1000 genomes]
rs12223440	0.82[ASN][1000 genomes]
rs12786014	0.89[AMR][1000 genomes]
rs36002518	0.89[AMR][1000 genomes]
rs4335522	0.95[AMR][1000 genomes]
rs4341512	0.86[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs4528305	0.84[AMR][1000 genomes]
rs4539305	0.82[ASN][1000 genomes]
rs4550205	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4600183	1.00[ASN][1000 genomes]
rs4757721	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4757722	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6483543	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6483544	0.89[AMR][1000 genomes]
rs7108374	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7124817	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs71486886	0.89[AMR][1000 genomes]
rs7931464	0.89[AMR][1000 genomes]
rs7944558	0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv553633	chr11:18311701-19058451	Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	esv2758257	chr11:18818729-19082068	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	esv2759806	chr11:18818729-19082068	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv428250	chr11:18818729-19082068	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18840200-18843200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:18841000-18843600	Enhancers	Fetal Intestine Small	intestine
3	chr11:18841600-18843400	Enhancers	Fetal Intestine Large	intestine
4	chr11:18842200-18843200	Active TSS	Duodenum Mucosa	Duodenum
5	chr11:18842200-18843400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr11:18842400-18843400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:18842600-18843200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:18842600-18843200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:18842600-18843200	Active TSS	Osteobl	bone
10	chr11:18842600-18843400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr11:18842600-18843400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr11:18842600-18843400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr11:18842800-18843200	Active TSS	NHDF-Ad	bronchial
14	chr11:18842800-18843400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:18842800-18843400	Active TSS	Hela-S3	cervix
16	chr11:18843000-18843200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:18843000-18843200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:18843000-18843200	Enhancers	GM12878-XiMat	blood
19	chr11:18843000-18843400	Enhancers	Primary hematopoietic stem cells	blood
20	chr11:18843000-18843400	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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