Variant report

Variant	rs17493084
Chromosome Location	chr18:25534490-25534491
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11564286	1.00[AMR][1000 genomes]
rs11564309	1.00[AMR][1000 genomes]
rs11564320	1.00[AMR][1000 genomes]
rs11564399	1.00[AMR][1000 genomes]
rs11564411	1.00[AMR][1000 genomes]
rs17493542	1.00[AMR][1000 genomes]
rs17493576	1.00[AMR][1000 genomes]
rs17493926	1.00[AMR][1000 genomes]
rs17494276	1.00[AMR][1000 genomes]
rs17494388	1.00[AMR][1000 genomes]
rs17521540	1.00[AMR][1000 genomes]
rs17522464	1.00[AMR][1000 genomes]
rs1899644	1.00[AMR][1000 genomes]
rs1899645	1.00[AMR][1000 genomes]
rs7243533	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761996	chr18:24866083-25818618	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv2760473	chr18:25386088-25571466	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv1066192	chr18:25454413-25606736	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv543669	chr18:25454413-25606736	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv833605	chr18:25467096-25643447	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:25512200-25540000	Weak transcription	Aorta	Aorta
2	chr18:25521400-25535800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr18:25522800-25536800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr18:25523000-25540200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr18:25528400-25539600	Weak transcription	Brain Germinal Matrix	brain
6	chr18:25528600-25534600	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr18:25528600-25542800	Weak transcription	Fetal Heart	heart
8	chr18:25528600-25547600	Weak transcription	HepG2	liver
9	chr18:25528800-25543200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr18:25529200-25540200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr18:25529200-25540200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr18:25529200-25543200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr18:25530200-25535200	Strong transcription	Liver	Liver
14	chr18:25530600-25539800	Weak transcription	A549	lung
15	chr18:25530600-25540000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr18:25530800-25537600	Weak transcription	Fetal Brain Female	brain
17	chr18:25530800-25555400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr18:25531000-25538600	Weak transcription	Ovary	ovary
19	chr18:25531000-25539800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr18:25531000-25540000	Weak transcription	Brain Angular Gyrus	brain
21	chr18:25531000-25544800	Weak transcription	HUVEC	blood vessel
22	chr18:25531000-25548000	Weak transcription	Right Ventricle	heart
23	chr18:25531200-25593600	Weak transcription	Fetal Kidney	kidney
24	chr18:25531600-25535400	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr18:25532400-25536600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr18:25532400-25539600	Weak transcription	Dnd41	blood
27	chr18:25532400-25541400	Weak transcription	Brain Substantia Nigra	brain
28	chr18:25532600-25545000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr18:25532800-25534800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr18:25532800-25535400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr18:25533400-25535000	Enhancers	HSMM	muscle
32	chr18:25533400-25535000	Enhancers	Osteobl	bone
33	chr18:25533400-25536600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr18:25533600-25534800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr18:25533600-25543200	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr18:25534000-25534600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr18:25534000-25534600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr18:25534000-25535000	Genic enhancers	NH-A	brain
39	chr18:25534200-25534600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr18:25534200-25534600	Enhancers	Fetal Lung	lung
41	chr18:25534400-25534600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr18:25534400-25534600	Enhancers	HSMMtube	muscle
43	chr18:25534400-25534800	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr18:25534400-25535000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr18:25534400-25535200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr18:25534400-25537400	Weak transcription	Left Ventricle	heart

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