Variant report

Variant	rs4388218
Chromosome Location	chr5:42582125-42582126
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10064713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34871145	1.00[AMR][1000 genomes]
rs4637556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6892685	1.00[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	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	nsv1020464	chr5:42488628-42699394	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1018751	chr5:42491883-42697923	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42568000-42582200	Weak transcription	Fetal Intestine Small	intestine
2	chr5:42568400-42582800	Weak transcription	Ovary	ovary
3	chr5:42571800-42583400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr5:42572200-42587800	Weak transcription	Left Ventricle	heart
5	chr5:42572400-42582800	Weak transcription	Right Ventricle	heart
6	chr5:42572800-42583000	Weak transcription	Fetal Muscle Leg	muscle
7	chr5:42573600-42586600	Weak transcription	Psoas Muscle	Psoas
8	chr5:42579800-42583000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr5:42580000-42583000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr5:42580000-42586400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:42581200-42583000	Strong transcription	Adipose Nuclei	Adipose
12	chr5:42581200-42583000	Genic enhancers	Liver	Liver
13	chr5:42581600-42583200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:42581800-42582400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr5:42581800-42583200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
16	chr5:42582000-42582800	ZNF genes & repeats	Fetal Stomach	stomach
17	chr5:42582000-42583000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr5:42582000-42583200	Strong transcription	Fetal Lung	lung

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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