Variant report

Variant	rs10518922
Chromosome Location	chr15:57782249-57782250
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:57780555..57782783-chr15:57783060..57786197,3	K562	blood:
2	chr15:57782161..57783961-chr15:57796230..57798996,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11632868	1.00[ASN][1000 genomes]
rs1280370	1.00[ASN][1000 genomes]
rs1280380	0.89[GIH][hapmap];1.00[ASN][1000 genomes]
rs12898542	1.00[ASN][1000 genomes]
rs1290243	1.00[ASN][1000 genomes]
rs1511949	1.00[ASN][1000 genomes]
rs17239707	1.00[ASN][1000 genomes]
rs17820365	0.89[CEU][hapmap];1.00[ASN][1000 genomes]
rs1908188	1.00[ASN][1000 genomes]
rs2201346	1.00[ASN][1000 genomes]
rs2934444	0.93[GIH][hapmap];0.92[MEX][hapmap];1.00[ASN][1000 genomes]
rs2942033	0.89[YRI][hapmap];1.00[ASN][1000 genomes]
rs4774951	0.83[MEX][hapmap];1.00[ASN][1000 genomes]
rs57799543	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62000313	1.00[ASN][1000 genomes]
rs72739761	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045611	chr15:57350965-58070807	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv1054547	chr15:57600488-57977659	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	esv2751536	chr15:57627408-57788408	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1038663	chr15:57633015-57786420	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1045486	chr15:57633015-57786592	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv457170	chr15:57644456-57790436	Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv569588	chr15:57644456-57790436	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv457171	chr15:57648012-57782249	Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv569589	chr15:57648012-57782249	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv833022	chr15:57657412-57830112	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv1045620	chr15:57680733-57804237	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	esv2763103	chr15:57781577-57799765	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10518922	WDR72	cis	parietal	SCAN
rs10518922	DMXL2	cis	cerebellum	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57749800-57787400	Weak transcription	Ovary	ovary
2	chr15:57771000-57795200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr15:57771600-57787400	Weak transcription	Fetal Kidney	kidney
4	chr15:57771600-57787600	Weak transcription	Fetal Stomach	stomach
5	chr15:57771800-57786800	Weak transcription	Aorta	Aorta
6	chr15:57777400-57786000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr15:57778200-57787000	Strong transcription	Liver	Liver
8	chr15:57778200-57798400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr15:57778600-57786800	Weak transcription	Fetal Muscle Leg	muscle
10	chr15:57778600-57789000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr15:57778800-57786800	Weak transcription	Gastric	stomach
12	chr15:57779000-57786600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr15:57779000-57786800	Weak transcription	Left Ventricle	heart
14	chr15:57779000-57787000	Weak transcription	Pancreas	Pancrea
15	chr15:57779000-57788600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr15:57779000-57789000	Weak transcription	Esophagus	oesophagus
17	chr15:57779000-57794200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr15:57779000-57794400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr15:57779000-57797600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr15:57779000-57798200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr15:57779200-57786800	Weak transcription	HepG2	liver
22	chr15:57779200-57787000	Weak transcription	HUVEC	blood vessel
23	chr15:57779200-57788600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr15:57779400-57794200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr15:57779400-57800800	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr15:57781000-57786800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr15:57781000-57787400	Weak transcription	Lung	lung
28	chr15:57781200-57784000	Weak transcription	Fetal Heart	heart

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