Variant report

Variant	rs2704289
Chromosome Location	chr7:18579254-18579255
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2520456	0.82[ASW][hapmap]
rs62446987	0.88[AMR][1000 genomes];0.85[EUR][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	esv2755157	chr7:18337660-18805860	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv887812	chr7:18548719-18622368	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2704289	CYP4Z2P	trans	parietal	SCAN

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18555200-18580800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:18560600-18584200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr7:18561000-18592600	Weak transcription	NHEK	skin
4	chr7:18561000-18598000	Weak transcription	HMEC	breast
5	chr7:18566600-18580200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:18570000-18580800	Weak transcription	Psoas Muscle	Psoas
7	chr7:18570200-18580600	Weak transcription	Brain Angular Gyrus	brain
8	chr7:18574000-18590400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr7:18574000-18592600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:18574200-18582800	Weak transcription	Primary B cells from cord blood	blood
11	chr7:18574600-18598400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr7:18574800-18582800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:18574800-18584200	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr7:18575600-18589600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr7:18576000-18580200	Weak transcription	Colon Smooth Muscle	Colon
16	chr7:18576000-18580400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:18576000-18580400	Weak transcription	Brain Hippocampus Middle	brain
18	chr7:18576000-18580600	Weak transcription	Brain Substantia Nigra	brain
19	chr7:18576000-18580800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:18576000-18580800	Weak transcription	Left Ventricle	heart
21	chr7:18576000-18581000	Weak transcription	Stomach Mucosa	stomach
22	chr7:18576000-18581400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr7:18576000-18583800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr7:18576000-18590200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr7:18576200-18580400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:18577400-18579400	Enhancers	Fetal Heart	heart
27	chr7:18577400-18580600	Enhancers	NHDF-Ad	bronchial
28	chr7:18577800-18580000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr7:18578000-18580200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:18578000-18580400	Weak transcription	Fetal Lung	lung
31	chr7:18578000-18590200	Weak transcription	Aorta	Aorta
32	chr7:18578200-18580800	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr7:18578600-18588000	Weak transcription	Fetal Muscle Leg	muscle
34	chr7:18578800-18580200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr7:18578800-18582800	Weak transcription	Primary B cells from peripheral blood	blood
36	chr7:18579000-18579400	Weak transcription	Osteobl	bone
37	chr7:18579000-18591000	Weak transcription	Primary hematopoietic stem cells	blood
38	chr7:18579200-18579400	Enhancers	Fetal Kidney	kidney

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