Variant report

Variant	rs17445496
Chromosome Location	chr18:25529697-25529698
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11083240	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11564414	1.00[CHD][hapmap]
rs17445385	1.00[ASN][1000 genomes]
rs17445468	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17467983	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17468047	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs17468075	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2289664	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs62101446	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62101448	0.87[ASN][1000 genomes]
rs9944769	1.00[ASN][1000 genomes]
rs9964071	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	esv3430750	chr18:25529535-25529829	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17445496	TPSG1	trans	lymphoblastoid	seeQTL
rs17445496	GALNT9	trans	lymphoblastoid	seeQTL

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:25512200-25540000	Weak transcription	Aorta	Aorta
2	chr18:25516400-25530400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr18:25521400-25535800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr18:25522800-25536800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr18:25523000-25533400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr18:25523000-25540200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr18:25523200-25530400	Weak transcription	Left Ventricle	heart
8	chr18:25523400-25530400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr18:25523400-25531600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr18:25528400-25532000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr18:25528400-25532200	Strong transcription	NH-A	brain
12	chr18:25528400-25539600	Weak transcription	Brain Germinal Matrix	brain
13	chr18:25528600-25530200	Weak transcription	Liver	Liver
14	chr18:25528600-25530400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr18:25528600-25534600	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr18:25528600-25542800	Weak transcription	Fetal Heart	heart
17	chr18:25528600-25547600	Weak transcription	HepG2	liver
18	chr18:25528800-25530400	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr18:25528800-25530400	Weak transcription	HUVEC	blood vessel
20	chr18:25528800-25533000	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr18:25528800-25543200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr18:25529200-25540200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr18:25529200-25540200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr18:25529200-25543200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr18:25529400-25530200	Weak transcription	HSMM	muscle
26	chr18:25529400-25530400	Weak transcription	Osteobl	bone
27	chr18:25529400-25533800	Weak transcription	HSMMtube	muscle
28	chr18:25529600-25529800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr18:25529600-25530000	Weak transcription	Brain Angular Gyrus	brain
30	chr18:25529600-25530200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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