Variant report

Variant	rs1472215
Chromosome Location	chr5:75990144-75990145
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:75986793..75988568-chr5:75989789..75992230,2	MCF-7	breast:
2	chr5:75987956..75990820-chr5:75991308..75992869,2	K562	blood:
3	chr5:75985699..75988121-chr5:75989171..75991647,2	MCF-7	breast:

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10055683	0.82[CHD][hapmap]
rs10060848	0.90[CEU][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10063791	0.84[CHB][hapmap]
rs7717826	0.90[CHB][hapmap];0.85[CHD][hapmap];0.84[GIH][hapmap];0.82[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	nsv1019669	chr5:75836365-76477788	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1035135	chr5:75927027-76092058	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1472215	HMGCR	cis	cerebellum	SCAN

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75945200-76001000	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr5:75946400-76001000	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr5:75947800-75992000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr5:75948000-76004600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr5:75950800-75999400	Weak transcription	Ovary	ovary
6	chr5:75951800-76001400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr5:75955000-75996600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr5:75967000-75991200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr5:75969800-75999600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr5:75971200-75991000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr5:75971400-75991200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr5:75973800-75991400	Weak transcription	Fetal Thymus	thymus
13	chr5:75975600-75999600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr5:75977600-75991000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr5:75977600-76003400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr5:75978400-76001600	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr5:75978400-76004400	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr5:75978600-76003400	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr5:75979800-75996200	Strong transcription	Liver	Liver
20	chr5:75980600-76002600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr5:75980800-76000200	Strong transcription	Primary hematopoietic stem cells	blood
22	chr5:75981200-76001600	Weak transcription	Primary B cells from peripheral blood	blood
23	chr5:75985800-76004400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr5:75986600-75996800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr5:75986600-76000000	Strong transcription	Primary B cells from cord blood	blood
26	chr5:75987400-75993800	Weak transcription	HepG2	liver
27	chr5:75987600-75990200	Weak transcription	Colonic Mucosa	Colon
28	chr5:75987600-75990800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr5:75987600-75991200	Weak transcription	Fetal Muscle Leg	muscle
30	chr5:75987600-75991400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr5:75987600-75992000	Weak transcription	K562	blood
32	chr5:75987600-75996200	Weak transcription	Fetal Stomach	stomach
33	chr5:75987600-75996600	Weak transcription	Gastric	stomach
34	chr5:75987600-75996800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr5:75987600-76001200	Weak transcription	Small Intestine	intestine
36	chr5:75987800-75992200	Weak transcription	HMEC	breast
37	chr5:75987800-76001400	Weak transcription	Fetal Lung	lung
38	chr5:75988000-75994000	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr5:75988000-75996800	Weak transcription	NHEK	skin
40	chr5:75988000-75999200	Weak transcription	Stomach Mucosa	stomach
41	chr5:75988200-75990200	Weak transcription	Adipose Nuclei	Adipose
42	chr5:75988200-75990800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr5:75988200-75992200	Enhancers	HUVEC	blood vessel
44	chr5:75988200-75992600	Strong transcription	Primary T cells from cord blood	blood
45	chr5:75988200-75995600	Weak transcription	Left Ventricle	heart
46	chr5:75988200-75996600	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr5:75988200-75996800	Weak transcription	NH-A	brain
48	chr5:75988200-75997000	Weak transcription	Spleen	Spleen
49	chr5:75988200-75997000	Weak transcription	Osteobl	bone
50	chr5:75988200-75999400	Strong transcription	Placenta	Placenta

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