Variant report

Variant	rs4555772
Chromosome Location	chr5:74302658-74302659
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10473971	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11957690	0.85[ASW][hapmap];0.88[LWK][hapmap];0.86[MKK][hapmap]
rs3811986	0.85[ASW][hapmap];0.88[LWK][hapmap];0.86[MKK][hapmap]
rs3811987	0.85[ASW][hapmap];0.88[LWK][hapmap];0.86[MKK][hapmap]
rs4285200	0.81[YRI][hapmap];0.81[AFR][1000 genomes]
rs62369164	0.88[AFR][1000 genomes]
rs62369167	0.89[AFR][1000 genomes]
rs6874469	0.81[AFR][1000 genomes]
rs7710706	0.91[CEU][hapmap]
rs7734427	0.85[ASW][hapmap];0.88[LWK][hapmap];0.86[MKK][hapmap]

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	nsv830352	chr5:74189495-74337944	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1018865	chr5:74246293-74494552	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Stearic acid (18:0) plasma levels	23362303	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4555772	HMGCR	cis	cerebellum	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74302200-74303600	Enhancers	H1 Cell Line	embryonic stem cell
2	chr5:74302200-74304600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr5:74302400-74303600	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr5:74302400-74303600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr5:74302400-74303800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:74302400-74304400	Enhancers	H9 Cell Line	embryonic stem cell
7	chr5:74302600-74302800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr5:74302600-74302800	Enhancers	Placenta Amnion	Placenta Amnion
9	chr5:74302600-74303000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:74302600-74303000	Enhancers	NHDF-Ad	bronchial
11	chr5:74302600-74303200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr5:74302600-74303200	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr5:74302600-74303600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:74302600-74303600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr5:74302600-74303600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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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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