Variant report

Variant	rs4703645
Chromosome Location	chr5:74361140-74361141
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10058171	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10440682	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10942731	0.85[ASN][1000 genomes]
rs17671266	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17671496	0.92[CHD][hapmap]
rs2035191	0.86[EUR][1000 genomes]
rs3923323	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4298240	0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs4632781	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4703656	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[MKK][hapmap];0.88[TSI][hapmap]
rs4703658	0.82[TSI][hapmap]
rs4704170	0.97[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs61688563	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6890143	0.84[JPT][hapmap]
rs73765675	0.97[AFR][1000 genomes];0.95[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	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
2	nsv882189	chr5:74356857-74478078	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4703645	HMGCR	cis	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74350800-74367600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:74359400-74362200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr5:74360000-74361400	Weak transcription	Fetal Thymus	thymus
4	chr5:74360200-74361600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr5:74360200-74362000	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr5:74360400-74361400	Weak transcription	Primary T cells from cord blood	blood
7	chr5:74360400-74361600	Weak transcription	Thymus	Thymus
8	chr5:74360400-74362200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr5:74360400-74363000	Weak transcription	Primary T helper cells PMA-I stimulated	--

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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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