Variant report

Variant	rs4382144
Chromosome Location	chr5:74274675-74274676
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10045282	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10066902	0.82[ASN][1000 genomes]
rs10078075	0.82[ASN][1000 genomes]
rs10805892	0.82[ASN][1000 genomes]
rs11748722	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4072296	0.86[EUR][1000 genomes]
rs4235682	0.82[ASN][1000 genomes]
rs4392602	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4413513	0.82[ASN][1000 genomes]
rs4703642	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6453099	0.91[ASN][1000 genomes]
rs6453100	0.81[ASN][1000 genomes]
rs6863602	0.82[ASN][1000 genomes]
rs6867482	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6883719	0.82[ASN][1000 genomes]
rs6889166	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6898812	0.82[ASN][1000 genomes]
rs7736223	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9293637	1.00[EUR][1000 genomes];0.91[ASN][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	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4382144	HMGCR	cis	cerebellum	SCAN
rs4382144	RASL10B	trans	cerebellum	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74261800-74290400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:74265800-74275000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:74272400-74274800	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr5:74272400-74274800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr5:74272600-74274800	Enhancers	Primary hematopoietic stem cells	blood
6	chr5:74273600-74274800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr5:74274000-74274800	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr5:74274000-74274800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:74274200-74274800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:74274200-74274800	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr5:74274400-74274800	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr5:74274400-74274800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr5:74274600-74274800	Enhancers	HUES64 Cell Line	embryonic stem cell

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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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