Variant report

Variant	rs1209228
Chromosome Location	chr14:72231880-72231881
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:72225522..72228097-chr14:72229687..72232421,2	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs1204967	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1204969	0.82[AMR][1000 genomes]
rs1204978	0.83[ASN][1000 genomes]
rs1343922	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3398985	chr14:71927884-72404676	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers 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
2	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1047559	chr14:72151736-72282151	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1209228	PTGR2	cis	cerebellum	SCAN
rs1209228	COQ6	cis	cerebellum	SCAN
rs1209228	HEATR4	cis	cerebellum	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72221600-72243200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:72231200-72232000	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr14:72231200-72232200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr14:72231400-72232000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr14:72231400-72232000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr14:72231400-72232000	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr14:72231400-72232200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr14:72231400-72232200	Flanking Active TSS	Osteobl	bone
9	chr14:72231600-72232000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr14:72231600-72232000	Active TSS	Muscle Satellite Cultured Cells	--
11	chr14:72231600-72232000	Enhancers	Fetal Lung	lung
12	chr14:72231600-72232000	Enhancers	Fetal Stomach	stomach
13	chr14:72231600-72232000	Active TSS	HSMM	muscle
14	chr14:72231600-72232000	Active TSS	NHDF-Ad	bronchial
15	chr14:72231600-72232200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr14:72231600-72232200	Enhancers	Fetal Kidney	kidney
17	chr14:72231600-72232200	Active TSS	NHLF	lung
18	chr14:72231800-72232000	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr14:72231800-72232200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr14:72231800-72232200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr14:72231800-72232200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr14:72231800-72237600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr14:72231800-72239400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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