Variant report

Variant	rs17493542
Chromosome Location	chr18:25577842-25577843
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11564286	1.00[AMR][1000 genomes]
rs11564309	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11564320	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11564399	1.00[AMR][1000 genomes]
rs11564411	1.00[AMR][1000 genomes]
rs17493084	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[YRI][hapmap];0.91[AFR][1000 genomes];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:4 , 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	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
3	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
4	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:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:25531200-25593600	Weak transcription	Fetal Kidney	kidney
2	chr18:25536400-25578200	Weak transcription	Fetal Brain Male	brain
3	chr18:25545600-25588600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr18:25553000-25593600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr18:25556200-25586800	Weak transcription	Spleen	Spleen
6	chr18:25556200-25592800	Weak transcription	Aorta	Aorta
7	chr18:25556200-25595800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr18:25556400-25584600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr18:25558800-25583600	Weak transcription	Right Ventricle	heart
10	chr18:25564800-25591400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr18:25565000-25592800	Weak transcription	A549	lung
12	chr18:25565200-25580000	Weak transcription	Ovary	ovary
13	chr18:25565200-25591800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr18:25566400-25584600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr18:25566600-25578400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr18:25571600-25588800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr18:25572000-25580600	Weak transcription	Fetal Intestine Large	intestine
18	chr18:25572800-25580800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr18:25572800-25589800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr18:25573000-25590000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr18:25573600-25578000	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr18:25573600-25578200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr18:25573600-25578200	Weak transcription	Dnd41	blood
24	chr18:25573600-25578400	Weak transcription	HepG2	liver
25	chr18:25573600-25582400	Weak transcription	Brain Substantia Nigra	brain
26	chr18:25573600-25591200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr18:25573600-25593400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr18:25573800-25578200	Weak transcription	Brain Germinal Matrix	brain
29	chr18:25574000-25579200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr18:25574200-25578200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr18:25574800-25578200	Weak transcription	Fetal Brain Female	brain
32	chr18:25574800-25578400	Weak transcription	Brain Anterior Caudate	brain
33	chr18:25574800-25582000	Weak transcription	Brain Cingulate Gyrus	brain
34	chr18:25574800-25582800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr18:25574800-25584800	Weak transcription	HSMMtube	muscle
36	chr18:25575000-25578200	Weak transcription	Brain Hippocampus Middle	brain
37	chr18:25575000-25582800	Weak transcription	Brain Angular Gyrus	brain
38	chr18:25575600-25591400	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr18:25576200-25578400	Enhancers	HUVEC	blood vessel
40	chr18:25576400-25581000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr18:25576400-25583800	Strong transcription	Liver	Liver
42	chr18:25576800-25578400	Weak transcription	Left Ventricle	heart
43	chr18:25576800-25580600	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr18:25576800-25581200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr18:25577000-25591000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr18:25577200-25578800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr18:25577200-25579400	Weak transcription	Fetal Muscle Leg	muscle
48	chr18:25577200-25583200	Strong transcription	HSMM	muscle
49	chr18:25577200-25583800	Weak transcription	Fetal Lung	lung
50	chr18:25577400-25578200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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