Variant report

Variant	rs10474433
Chromosome Location	chr5:74616843-74616844
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:74530660..74533161-chr5:74616119..74617776,2	K562	blood:

Variant related genes	Relation type
ENSG00000145700	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10045497	0.81[CEU][hapmap]
rs11749783	0.81[CEU][hapmap];0.89[GIH][hapmap]
rs12654264	0.81[CEU][hapmap];0.86[GIH][hapmap]
rs13358429	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1551894	0.90[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap]
rs17671591	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2878417	0.85[CEU][hapmap];0.83[AFR][1000 genomes]
rs2878418	0.83[ASN][1000 genomes]
rs3761743	0.87[CHD][hapmap];0.81[JPT][hapmap]
rs3843481	0.81[CEU][hapmap]
rs3846662	0.86[GIH][hapmap]
rs3931914	0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs4549504	0.86[GIH][hapmap]
rs4604177	0.86[GIH][hapmap]
rs4703670	0.81[JPT][hapmap]
rs5744533	0.87[CHD][hapmap];0.81[JPT][hapmap]
rs6878990	0.86[GIH][hapmap]
rs698912	0.87[CHD][hapmap]
rs7700468	0.87[CHD][hapmap];0.81[JPT][hapmap]
rs7701925	0.92[CHD][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs7703051	0.81[CEU][hapmap];0.89[GIH][hapmap]
rs7709282	0.87[CHD][hapmap];0.81[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016610	chr5:74403611-74627654	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10474433	HMGCR	cis	cerebellum	SCAN
rs10474433	HMGCR	cis	parietal	SCAN
rs10474433	POC5	cis	parietal	SCAN
rs10474433	ARSB	cis	parietal	SCAN

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74614000-74621400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr5:74614600-74617400	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr5:74614800-74617200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr5:74614800-74617400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr5:74614800-74617600	Enhancers	Placenta Amnion	Placenta Amnion
6	chr5:74615000-74617400	Enhancers	HepG2	liver
7	chr5:74615400-74617400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:74615600-74617600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr5:74615600-74617600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:74615600-74618200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr5:74615800-74617000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:74615800-74617000	Enhancers	HMEC	breast
13	chr5:74615800-74617200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr5:74615800-74617400	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr5:74615800-74617400	Flanking Active TSS	A549	lung
16	chr5:74615800-74618400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr5:74616000-74617000	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr5:74616000-74617000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr5:74616000-74617200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:74616000-74617400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr5:74616000-74618400	Enhancers	H1 Cell Line	embryonic stem cell
22	chr5:74616200-74617000	Enhancers	NHEK	skin
23	chr5:74616200-74617400	Enhancers	NHLF	lung
24	chr5:74616200-74617600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:74616200-74617600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr5:74616200-74617800	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr5:74616200-74617800	Enhancers	Muscle Satellite Cultured Cells	--
28	chr5:74616200-74617800	Flanking Active TSS	Hela-S3	cervix
29	chr5:74616400-74617400	Enhancers	HSMM	muscle
30	chr5:74616400-74617600	Enhancers	K562	blood
31	chr5:74616400-74617600	Enhancers	NHDF-Ad	bronchial
32	chr5:74616600-74617000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr5:74616600-74617000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:74616600-74617400	Enhancers	H9 Cell Line	embryonic stem cell
35	chr5:74616600-74617400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr5:74616600-74617400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr5:74616600-74617400	Flanking Active TSS	NH-A	brain
38	chr5:74616600-74617600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr5:74616600-74619000	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr5:74616800-74617000	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr5:74616800-74617000	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr5:74616800-74617000	Enhancers	HSMMtube	muscle
43	chr5:74616800-74617200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr5:74616800-74617200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr5:74616800-74617200	Enhancers	Osteobl	bone
46	chr5:74616800-74617600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr5:74616800-74617600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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