Variant report

Variant	rs17494388
Chromosome Location	chr18:25657048-25657049
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

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[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11564411	1.00[AMR][1000 genomes]
rs17493084	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[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17494718	1.00[YRI][hapmap]
rs17521540	1.00[AMR][1000 genomes]
rs17522464	1.00[AMR][1000 genomes]
rs17536996	1.00[YRI][hapmap]
rs1899644	1.00[AMR][1000 genomes]
rs1899645	1.00[AMR][1000 genomes]
rs7243533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:25645000-25658200	Weak transcription	Fetal Brain Female	brain
2	chr18:25646200-25666400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr18:25649600-25661400	Enhancers	Fetal Heart	heart
4	chr18:25650600-25666800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr18:25651200-25661800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr18:25651600-25665200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr18:25652400-25659600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr18:25652400-25659600	Weak transcription	Right Atrium	heart
9	chr18:25652600-25659600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr18:25652600-25661800	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr18:25652600-25663800	Weak transcription	Right Ventricle	heart
12	chr18:25653200-25657200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr18:25654000-25666000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr18:25654400-25660000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr18:25654600-25657800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr18:25655000-25657200	Enhancers	Brain Hippocampus Middle	brain
17	chr18:25655200-25657400	Enhancers	Brain Cingulate Gyrus	brain
18	chr18:25655200-25657400	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr18:25655200-25657400	Enhancers	Brain Substantia Nigra	brain
20	chr18:25655400-25657600	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr18:25655600-25657400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr18:25655600-25659600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr18:25655600-25660800	Weak transcription	Left Ventricle	heart
24	chr18:25655800-25657400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr18:25655800-25659800	Weak transcription	Brain Germinal Matrix	brain
26	chr18:25655800-25660800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr18:25655800-25690800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr18:25656000-25658200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr18:25656000-25659600	Weak transcription	HSMM	muscle
30	chr18:25656200-25658000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr18:25656200-25658200	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr18:25656200-25658200	Weak transcription	HSMMtube	muscle
33	chr18:25656200-25658400	Weak transcription	HepG2	liver
34	chr18:25656200-25663000	Weak transcription	Brain Angular Gyrus	brain
35	chr18:25656200-25663000	Weak transcription	Brain Anterior Caudate	brain
36	chr18:25656400-25658200	Weak transcription	Osteobl	bone
37	chr18:25656400-25662600	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr18:25656600-25657200	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr18:25656600-25657200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr18:25656800-25657400	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr18:25656800-25657400	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr18:25656800-25657400	Enhancers	NH-A	brain
43	chr18:25656800-25657600	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr18:25656800-25658600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr18:25657000-25657200	Enhancers	HUVEC	blood vessel
46	chr18:25657000-25657400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr18:25657000-25657400	Flanking Active TSS	A549	lung
48	chr18:25657000-25657800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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