Variant report

Variant	rs2289328
Chromosome Location	chr15:40705417-40705418
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	REST	chr15:40705361-40705503	HepG2	liver:	n/a	chr15:40705437-40705446 chr15:40705439-40705446
2	REST	chr15:40705270-40705578	H1-hESC	embryonic stem cell:	n/a	chr15:40705437-40705446 chr15:40705439-40705446
3	REST	chr15:40705361-40705515	HepG2	liver:	n/a	chr15:40705437-40705446 chr15:40705439-40705446
4	REST	chr15:40705382-40705465	GM12878	blood:	n/a	chr15:40705437-40705446 chr15:40705439-40705446
5	POLR2A	chr15:40705397-40705550	H1-hESC	embryonic stem cell:	n/a	n/a
6	REST	chr15:40705211-40705623	ECC-1	luminal epithelium:	n/a	chr15:40705437-40705446 chr15:40705439-40705446
7	REST	chr15:40705256-40705530	PANC-1	pancreas:	n/a	chr15:40705437-40705446 chr15:40705439-40705446
8	REST	chr15:40705370-40705514	HepG2	liver:	n/a	chr15:40705437-40705446 chr15:40705439-40705446
9	REST	chr15:40705213-40705599	PFSK-1	brain:	n/a	chr15:40705437-40705446 chr15:40705439-40705446
10	REST	chr15:40705369-40705503	PANC-1	pancreas:	n/a	chr15:40705437-40705446 chr15:40705439-40705446
11	REST	chr15:40705288-40705661	ECC-1	luminal epithelium:	n/a	chr15:40705437-40705446 chr15:40705439-40705446
12	REST	chr15:40705271-40705537	K562	blood:	n/a	chr15:40705437-40705446 chr15:40705439-40705446
13	REST	chr15:40705298-40705596	PFSK-1	brain:	n/a	chr15:40705437-40705446 chr15:40705439-40705446
14	REST	chr15:40705331-40705580	U87	brain:	n/a	chr15:40705437-40705446 chr15:40705439-40705446
15	REST	chr15:40705352-40705520	K562	blood:	n/a	chr15:40705437-40705446 chr15:40705439-40705446
16	REST	chr15:40705174-40705725	HL-60	blood:	n/a	chr15:40705437-40705446 chr15:40705439-40705446
17	REST	chr15:40705273-40705623	PANC-1	pancreas:	n/a	chr15:40705437-40705446 chr15:40705439-40705446
18	REST	chr15:40705321-40705640	HL-60	blood:	n/a	chr15:40705437-40705446 chr15:40705439-40705446
19	REST	chr15:40705333-40705580	U87	brain:	n/a	chr15:40705437-40705446 chr15:40705439-40705446
20	REST	chr15:40705366-40705518	PANC-1	pancreas:	n/a	chr15:40705437-40705446 chr15:40705439-40705446
21	REST	chr15:40705309-40705598	H1-hESC	embryonic stem cell:	n/a	chr15:40705437-40705446 chr15:40705439-40705446
22	POLR2A	chr15:40705323-40705490	Hela-S3	cervix:	n/a	n/a
23	REST	chr15:40705297-40705601	SK-N-SH	brain:	n/a	chr15:40705437-40705446 chr15:40705439-40705446
24	REST	chr15:40705311-40705648	HCT-116	colon:	n/a	chr15:40705437-40705446 chr15:40705439-40705446
25	REST	chr15:40705218-40705644	PANC-1	pancreas:	n/a	chr15:40705437-40705446 chr15:40705439-40705446
26	REST	chr15:40705297-40705538	PFSK-1	brain:	n/a	chr15:40705437-40705446 chr15:40705439-40705446
27	REST	chr15:40705276-40705623	MCF-7	breast:	n/a	chr15:40705437-40705446 chr15:40705439-40705446

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:40697487..40700502-chr15:40704344..40708003,4	K562	blood:
2	chr15:40696493..40699677-chr15:40705258..40709114,5	MCF-7	breast:

Variant related genes	Relation type
IVD	TF binding region
ENSG00000128928	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 17 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11634187	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11636147	0.90[CEU][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12905240	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12913300	0.92[EUR][1000 genomes]
rs16970633	1.00[CEU][hapmap];0.90[MEX][hapmap];0.81[EUR][1000 genomes]
rs2412511	1.00[LWK][hapmap]
rs35565646	0.92[EUR][1000 genomes]
rs35777573	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3803359	0.91[CEU][hapmap];0.83[GIH][hapmap];0.96[TSI][hapmap];0.92[EUR][1000 genomes]
rs3803360	0.91[EUR][1000 genomes]
rs56221586	0.90[EUR][1000 genomes]
rs71472433	0.84[EUR][1000 genomes]
rs7164581	0.83[EUR][1000 genomes]
rs7164606	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34145	chr15:40549617-40889824	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv510660	chr15:40552906-40721883	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:17)

SNP	Gene	Cis/trans	Tissue	Source
rs2289328	DISP2	cis	Heart Left Ventricle	GTEx
rs2289328	RP11-64K12.4	cis	Esophagus Muscularis	GTEx
rs2289328	RP11-64K12.4	cis	Adipose Subcutaneous	GTEx
rs2289328	DISP2	cis	Esophagus Muscularis	GTEx
rs2289328	C15orf23	cis	cerebellum	SCAN
rs2289328	DISP2	cis	Nerve Tibial	GTEx
rs2289328	DISP2	cis	Skin Sun Exposed Lower leg	GTEx
rs2289328	RP11-64K12.4	cis	Skin Sun Exposed Lower leg	GTEx
rs2289328	DISP2	cis	Adipose Subcutaneous	GTEx
rs2289328	DISP2	cis	multi-tissue	Pritchard
rs2289328	DISP2	cis	Muscle Skeletal	GTEx
rs2289328	DISP2	cis	lung	GTEx
rs2289328	IVD	cis	multi-tissue	Pritchard
rs2289328	CCDC32	Cis_1M	lymphoblastoid	RTeQTL
rs2289328	DISP2	cis	Liver	GTEx
rs2289328	DISP2	cis	Artery Tibial	GTEx
rs2289328	DISP2	cis	Esophagus Mucosa	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40698600-40712400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:40698800-40707000	Weak transcription	Psoas Muscle	Psoas
3	chr15:40698800-40707600	Weak transcription	NHEK	skin
4	chr15:40698800-40709600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr15:40699000-40714000	Weak transcription	Small Intestine	intestine
6	chr15:40699600-40710000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr15:40699600-40710800	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr15:40699600-40710800	Strong transcription	Primary T cells from cord blood	blood
9	chr15:40699600-40711000	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr15:40699600-40711000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr15:40699600-40711000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr15:40699600-40711200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr15:40699600-40712400	Weak transcription	Right Atrium	heart
14	chr15:40699600-40714000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr15:40699800-40709000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
16	chr15:40699800-40709200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr15:40699800-40709200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr15:40699800-40710800	Strong transcription	NHLF	lung
19	chr15:40699800-40711000	Strong transcription	H9 Cell Line	embryonic stem cell
20	chr15:40699800-40711000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr15:40699800-40711000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr15:40699800-40711000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr15:40699800-40711000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr15:40699800-40711000	Strong transcription	Muscle Satellite Cultured Cells	--
25	chr15:40699800-40711000	Strong transcription	Skeletal Muscle Male	skeletal muscle
26	chr15:40699800-40711000	Strong transcription	Skeletal Muscle Female	skeletal muscle
27	chr15:40699800-40711000	Strong transcription	Osteobl	bone
28	chr15:40699800-40711400	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr15:40699800-40712400	Strong transcription	Fetal Stomach	stomach
30	chr15:40700000-40705800	Strong transcription	NHDF-Ad	bronchial
31	chr15:40700000-40708400	Strong transcription	Rectal Smooth Muscle	rectum
32	chr15:40700000-40710600	Strong transcription	HSMM	muscle
33	chr15:40700000-40710800	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr15:40700000-40710800	Strong transcription	Fetal Thymus	thymus
35	chr15:40700000-40711000	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr15:40700000-40711000	Strong transcription	Left Ventricle	heart
37	chr15:40700000-40711000	Strong transcription	Lung	lung
38	chr15:40700000-40711400	Strong transcription	Fetal Muscle Leg	muscle
39	chr15:40700000-40711800	Strong transcription	Thymus	Thymus
40	chr15:40700000-40712200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr15:40700000-40712600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr15:40700200-40706800	Weak transcription	Fetal Heart	heart
43	chr15:40700200-40710800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr15:40700200-40711000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr15:40700200-40711000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr15:40700200-40711000	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr15:40700200-40711000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr15:40700200-40711000	Strong transcription	Ovary	ovary
49	chr15:40700200-40711200	Strong transcription	Fetal Muscle Trunk	muscle
50	chr15:40700200-40711400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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