Variant report

Variant	rs12706724
Chromosome Location	chr7:79860106-79860107
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs13222403	0.85[GIH][hapmap]
rs17153599	1.00[JPT][hapmap]
rs17153603	1.00[JPT][hapmap]
rs7458619	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[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	nsv429785	chr7:79589749-80177049	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1024312	chr7:79832637-80004812	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1029180	chr7:79832637-80017560	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12706724	NT5E	trans	lymphoblastoid	seeQTL

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79831800-79861200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:79836600-79861000	Weak transcription	HSMMtube	muscle
3	chr7:79843000-79862800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:79846800-79861000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:79848800-79860600	Weak transcription	NHEK	skin
6	chr7:79849400-79860600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr7:79849600-79860600	Weak transcription	HMEC	breast
8	chr7:79850200-79860600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:79850200-79861000	Weak transcription	NHLF	lung
10	chr7:79850400-79866200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr7:79851600-79860800	Weak transcription	A549	lung
12	chr7:79852200-79861000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr7:79855200-79860800	Weak transcription	NHDF-Ad	bronchial
14	chr7:79856800-79861200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr7:79859000-79860200	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr7:79859200-79862400	Enhancers	Muscle Satellite Cultured Cells	--
17	chr7:79859200-79863200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:79859400-79860200	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr7:79859400-79860200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:79859400-79860200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr7:79859400-79860200	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr7:79859400-79860200	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr7:79859400-79861600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:79859400-79861600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:79859600-79860200	Enhancers	Osteobl	bone
26	chr7:79859600-79860400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr7:79859600-79862200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:79859600-79862600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr7:79859600-79863200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr7:79859800-79860200	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr7:79859800-79862000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr7:79860000-79861200	Enhancers	HSMM	muscle
33	chr7:79860000-79866200	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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