Variant report

Variant	rs62379176
Chromosome Location	chr5:113774516-113774517
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs35301607	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62378430	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62379173	0.95[EUR][1000 genomes]
rs62379175	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62381467	0.83[EUR][1000 genomes]
rs62381469	0.80[EUR][1000 genomes]
rs72799694	0.88[EUR][1000 genomes]
rs72801807	0.95[EUR][1000 genomes]
rs72801830	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72801831	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830451	chr5:113684301-113829833	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv882729	chr5:113743628-114497708	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 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	chr5:113769800-113774600	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr5:113769800-113776200	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr5:113770600-113782200	Weak transcription	Liver	Liver
4	chr5:113770600-113784600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:113772000-113777000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:113772000-113782800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr5:113772600-113776400	Enhancers	Fetal Brain Male	brain
8	chr5:113772800-113774600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr5:113773400-113774600	Enhancers	Fetal Heart	heart
10	chr5:113773800-113774600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:113774000-113775600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr5:113774000-113779800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:113774200-113775400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr5:113774200-113779000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr5:113774400-113784800	Weak transcription	Fetal Brain Female	brain

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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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