Variant report

Variant	rs1515751
Chromosome Location	chr17:45292434-45292435
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr17:45292343-45292773	SH-SY5Y	brain:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:45265464..45268505-chr17:45290977..45295221,4	K562	blood:
2	chr17:45290405..45293270-chr17:45298817..45300612,2	K562	blood:
3	chr17:45281266..45284177-chr17:45290868..45295313,4	K562	blood:
4	chr17:45290579..45293565-chr17:45317348..45318861,2	K562	blood:
5	chr17:45290115..45292672-chr17:45392018..45394562,2	K562	blood:

No data

Variant related genes	Relation type
MYL4	TF binding region
ENSG00000004897	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11570508	0.82[GIH][hapmap]
rs12946597	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1515752	0.92[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1713494	0.85[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.81[GIH][hapmap];0.93[JPT][hapmap];0.93[LWK][hapmap];0.83[TSI][hapmap]
rs1713495	0.85[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.81[GIH][hapmap];0.94[JPT][hapmap];0.93[LWK][hapmap];0.96[MEX][hapmap];0.82[MKK][hapmap];0.83[TSI][hapmap]
rs17668126	0.82[GIH][hapmap]
rs188799	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2071438	0.92[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.96[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs221597	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs221598	0.92[CEU][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs221599	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs221602	0.91[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3785875	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4968309	0.92[ASW][hapmap];0.92[CHB][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.96[ASN][1000 genomes]
rs701982	0.92[CHB][hapmap];0.89[CHD][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs764792	0.85[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.84[GIH][hapmap];0.94[JPT][hapmap];0.93[LWK][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8071382	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes]
rs8076808	0.82[EUR][1000 genomes]
rs858673	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs858679	0.85[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.83[GIH][hapmap];0.94[JPT][hapmap];0.93[LWK][hapmap];0.95[MEX][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs938904	0.92[CEU][hapmap];0.92[CHB][hapmap];0.90[CHD][hapmap];0.81[GIH][hapmap];0.94[JPT][hapmap];0.80[MEX][hapmap];0.83[TSI][hapmap]
rs9905948	0.82[EUR][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	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1515751	SOST	cis	cerebellum	SCAN
rs1515751	ACLY	cis	parietal	SCAN
rs1515751	DBF4B	cis	parietal	SCAN
rs1515751	NMT1	cis	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45284400-45293400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr17:45286600-45296200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr17:45287000-45294200	Weak transcription	Primary B cells from peripheral blood	blood
4	chr17:45288400-45302000	Weak transcription	HSMM	muscle
5	chr17:45288600-45296200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr17:45290600-45295000	Strong transcription	HSMMtube	muscle
7	chr17:45290800-45296200	Weak transcription	Right Atrium	heart
8	chr17:45291200-45294200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr17:45291400-45294400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr17:45291400-45294400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr17:45291600-45292800	Enhancers	Fetal Heart	heart
12	chr17:45291800-45292800	Enhancers	K562	blood
13	chr17:45291800-45295200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr17:45291800-45295800	Weak transcription	Fetal Muscle Leg	muscle
15	chr17:45292400-45292600	Enhancers	Fetal Brain Female	brain
16	chr17:45292400-45292800	Enhancers	Fetal Brain Male	brain

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