Variant report

Variant	rs1378376
Chromosome Location	chr4:80010684-80010685
allele	G/T
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]
rs1455302	0.85[AFR][1000 genomes]
rs60896670	0.83[AFR][1000 genomes]
rs62308753	0.86[AMR][1000 genomes]
rs7684699	0.99[AFR][1000 genomes];0.81[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	nsv829979	chr4:79819168-80019159	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1000907	chr4:79838948-80224764	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv879505	chr4:79887043-80293046	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv3448470	chr4:79898340-80026510	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:80007200-80011200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:80007200-80012400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:80007600-80010800	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr4:80009200-80010800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:80009200-80010800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr4:80009200-80010800	Weak transcription	Brain Substantia Nigra	brain
7	chr4:80009400-80010800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr4:80010000-80010800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr4:80010000-80010800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr4:80010000-80011800	Enhancers	Fetal Heart	heart
11	chr4:80010400-80012400	Enhancers	Fetal Kidney	kidney

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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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