Variant report

Variant	rs2247115
Chromosome Location	chr22:22024150-22024151
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr22:22024005-22024586	GM12878	blood:	n/a	chr22:22024108-22024123
2	FOS	chr22:22023959-22024193	MCF10A-Er-Src	breast:	n/a	n/a
3	MAFK	chr22:22024033-22024427	H1-hESC	embryonic stem cell:	n/a	chr22:22024108-22024123
4	MAFK	chr22:22023974-22024289	Hela-S3	cervix:	n/a	chr22:22024108-22024123
5	FOS	chr22:22023980-22024264	MCF10A-Er-Src	breast:	n/a	n/a
6	MAFF	chr22:22023935-22024395	K562	blood:	n/a	chr22:22024106-22024124
7	FOS	chr22:22023957-22024262	MCF10A-Er-Src	breast:	n/a	n/a
8	MAFK	chr22:22023937-22024322	IMR90	lung:	n/a	chr22:22024108-22024123
9	STAT5A	chr22:22024060-22024453	K562	blood:	n/a	n/a
10	MAFF	chr22:22023940-22024363	HepG2	liver:	n/a	chr22:22024106-22024124
11	MAFK	chr22:22023949-22024299	HepG2	liver:	n/a	chr22:22024108-22024123
12	MAFK	chr22:22023933-22024308	HepG2	liver:	n/a	chr22:22024108-22024123
13	MAFK	chr22:22023942-22024363	K562	blood:	n/a	chr22:22024108-22024123

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:22019315..22021619-chr22:22023788..22025328,2	MCF-7	breast:
2	chr22:22022905..22026953-chr22:22292276..22294623,3	K562	blood:

Variant related genes	Relation type
PPIL2	TF binding region
ENSG00000100034	Chromatin interaction
ENSG00000224086	Chromatin interaction
ENSG00000100023	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1624238	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1647706	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1647707	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1647708	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1647709	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1647712	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1669114	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1669115	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1669117	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1669118	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1669120	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1669121	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1669125	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2298430	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2329827	0.86[CEU][hapmap];0.88[TSI][hapmap];0.82[EUR][1000 genomes]
rs2599424	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2845462	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2845464	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5749643	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5749655	0.93[ASN][1000 genomes]
rs5754627	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5754659	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs5754789	0.83[EUR][1000 genomes]
rs5754790	0.83[EUR][1000 genomes]
rs762349	0.95[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs8137977	0.83[ASN][1000 genomes]
rs861830	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs861834	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv914458	chr22:21747678-22070489	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
2	esv1823866	chr22:21928916-22131125	Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	374 gene(s)	inside rSNPs	diseases
3	nsv948603	chr22:21928916-22601814	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	422 gene(s)	inside rSNPs	diseases
4	nsv948902	chr22:21928916-22657900	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	426 gene(s)	inside rSNPs	diseases
5	nsv1063962	chr22:21939722-22934593	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
6	nsv1058617	chr22:21939922-22934454	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
7	nsv529694	chr22:21957411-22905068	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS 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	474 gene(s)	inside rSNPs	diseases
8	nsv914464	chr22:21964761-22039863	Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	367 gene(s)	inside rSNPs	diseases
9	nsv914465	chr22:21964761-22055280	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
10	nsv914466	chr22:21964761-22057273	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
11	nsv531797	chr22:21977700-22959729	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	476 gene(s)	inside rSNPs	diseases
12	nsv914467	chr22:21982892-22055280	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	363 gene(s)	inside rSNPs	diseases
13	nsv914468	chr22:21982892-22070489	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	365 gene(s)	inside rSNPs	diseases
14	nsv1066403	chr22:22010822-22352262	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs2247115	PEX26	cis	cerebellum	SCAN
rs2247115	PRAME	cis	parietal	SCAN
rs2247115	YPEL1	cis	parietal	SCAN
rs2247115	DGCR14	cis	parietal	SCAN
rs2247115	C22orf43	cis	cerebellum	SCAN
rs2247115	PPIL2	cis	cerebellum	SCAN
rs2247115	SNAP29	cis	parietal	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22021200-22025000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:22021200-22025000	Weak transcription	Aorta	Aorta
3	chr22:22021200-22025200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr22:22021400-22024200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr22:22021400-22024200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr22:22021400-22024200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr22:22021400-22024200	Weak transcription	Liver	Liver
8	chr22:22021400-22024200	Weak transcription	Brain Angular Gyrus	brain
9	chr22:22021400-22024200	Weak transcription	Brain Anterior Caudate	brain
10	chr22:22021400-22024200	Weak transcription	Brain Hippocampus Middle	brain
11	chr22:22021400-22024200	Weak transcription	HSMMtube	muscle
12	chr22:22021400-22024200	Weak transcription	HUVEC	blood vessel
13	chr22:22021400-22024200	Weak transcription	NHLF	lung
14	chr22:22021400-22024600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr22:22021400-22024600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr22:22021400-22024800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr22:22021400-22024800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr22:22021400-22024800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr22:22021400-22024800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr22:22021400-22024800	Weak transcription	Fetal Brain Female	brain
21	chr22:22021400-22024800	Weak transcription	Fetal Heart	heart
22	chr22:22021400-22024800	Weak transcription	Right Atrium	heart
23	chr22:22021400-22024800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr22:22021400-22024800	Weak transcription	NH-A	brain
25	chr22:22021400-22024800	Weak transcription	NHDF-Ad	bronchial
26	chr22:22021400-22024800	Weak transcription	Osteobl	bone
27	chr22:22021400-22025000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr22:22021400-22025000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr22:22021400-22025000	Weak transcription	Colonic Mucosa	Colon
30	chr22:22021400-22025000	Weak transcription	Gastric	stomach
31	chr22:22021400-22025000	Weak transcription	Right Ventricle	heart
32	chr22:22021400-22025000	Weak transcription	Small Intestine	intestine
33	chr22:22021400-22025200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr22:22021400-22025400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr22:22021400-22025400	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr22:22021400-22025600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr22:22021400-22026200	Weak transcription	Fetal Kidney	kidney
38	chr22:22021400-22026400	Weak transcription	Psoas Muscle	Psoas
39	chr22:22021400-22032000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr22:22021400-22035200	Weak transcription	Stomach Mucosa	stomach
41	chr22:22021400-22036600	Weak transcription	A549	lung
42	chr22:22021600-22024200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr22:22021600-22024200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr22:22021600-22024200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr22:22021600-22024600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr22:22021600-22024600	Weak transcription	Colon Smooth Muscle	Colon
47	chr22:22021600-22025000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr22:22021600-22025200	Weak transcription	Fetal Lung	lung
49	chr22:22021800-22024200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr22:22021800-22024800	Weak transcription	Primary hematopoietic stem cells	blood

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