Variant report

Variant	rs73783935
Chromosome Location	chr5:126952317-126952318
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11746912	0.93[ASN][1000 genomes]
rs17164722	0.87[ASN][1000 genomes]
rs17164730	1.00[ASN][1000 genomes]
rs17764039	1.00[ASN][1000 genomes]
rs17764069	0.87[ASN][1000 genomes]
rs73783934	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs73783936	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73783937	1.00[ASN][1000 genomes]
rs73783938	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73783939	1.00[ASN][1000 genomes]
rs73783940	1.00[AFR][1000 genomes];0.86[ASN][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	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv830479	chr5:126849254-127053121	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1021483	chr5:126927834-127304873	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv519906	chr5:126943293-126955918	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126944600-126960400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:126947600-126962000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:126949000-126953800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:126951000-126952400	Enhancers	Colon Smooth Muscle	Colon
5	chr5:126951200-126952600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:126951400-126952400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:126951400-126952400	Enhancers	NHEK	skin
8	chr5:126951400-126952600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:126951400-126952800	Enhancers	Stomach Smooth Muscle	stomach
10	chr5:126951600-126952400	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr5:126951600-126952600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:126951800-126952400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr5:126952000-126952400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:126952000-126957000	Weak transcription	Fetal Lung	lung
15	chr5:126952200-126952600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr5:126952200-126955400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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

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