Variant report

Variant	rs2214090
Chromosome Location	chr7:18585173-18585174
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11765376	0.91[EUR][1000 genomes]
rs213270	0.95[EUR][1000 genomes]
rs213271	0.93[EUR][1000 genomes]
rs213273	0.89[EUR][1000 genomes]
rs213274	0.89[EUR][1000 genomes]
rs213276	0.91[EUR][1000 genomes]
rs801767	0.87[CEU][hapmap];0.95[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

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18561000-18592600	Weak transcription	NHEK	skin
2	chr7:18561000-18598000	Weak transcription	HMEC	breast
3	chr7:18574000-18590400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:18574000-18592600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:18574600-18598400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr7:18575600-18589600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr7:18576000-18590200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr7:18578000-18590200	Weak transcription	Aorta	Aorta
9	chr7:18578600-18588000	Weak transcription	Fetal Muscle Leg	muscle
10	chr7:18579000-18591000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr7:18581000-18592200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr7:18581200-18590200	Weak transcription	Psoas Muscle	Psoas
13	chr7:18581200-18592000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr7:18581200-18592200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr7:18581200-18592200	Weak transcription	Stomach Mucosa	stomach
16	chr7:18581200-18600400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr7:18581400-18589000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr7:18581600-18620200	Weak transcription	HSMMtube	muscle
19	chr7:18581800-18585400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr7:18581800-18592000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:18581800-18592000	Weak transcription	NH-A	brain
22	chr7:18581800-18592600	Weak transcription	Left Ventricle	heart
23	chr7:18582000-18592000	Weak transcription	Osteobl	bone
24	chr7:18582000-18592200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr7:18582000-18594400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr7:18582200-18594400	Weak transcription	NHDF-Ad	bronchial
27	chr7:18582800-18585200	Strong transcription	Primary B cells from cord blood	blood
28	chr7:18582800-18585800	Strong transcription	Primary B cells from peripheral blood	blood
29	chr7:18582800-18586000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr7:18583200-18591400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr7:18584000-18586000	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr7:18584200-18585200	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr7:18584800-18590200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr7:18584800-18591000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr7:18585000-18592800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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