Variant report

Variant	rs56221586
Chromosome Location	chr15:40650402-40650403
allele	C/G
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	SP1	chr15:40650162-40650518	GM12878	blood:	n/a	chr15:40650384-40650393 chr15:40650385-40650394 chr15:40650352-40650373 chr15:40650383-40650395 chr15:40650383-40650395
2	REST	chr15:40650273-40650768	SK-N-SH	brain:	n/a	chr15:40650484-40650498 chr15:40650649-40650658
3	REST	chr15:40650209-40650715	HepG2	liver:	n/a	chr15:40650484-40650498 chr15:40650649-40650658
4	REST	chr15:40650019-40651433	U87	brain:	n/a	chr15:40650881-40650894 chr15:40650484-40650498 chr15:40650054-40650067 chr15:40650649-40650658
5	NRF1	chr15:40650220-40650605	GM12878	blood:	n/a	chr15:40650415-40650429 chr15:40650412-40650426 chr15:40650415-40650426 chr15:40650415-40650426 chr15:40650417-40650426
6	MAX	chr15:40650101-40650682	GM12878	blood:	n/a	n/a
7	POLR2A	chr15:40649982-40651429	H1-neurons	neurons:	n/a	n/a
8	POLR2A	chr15:40650200-40650585	HUVEC	blood vessel:	n/a	n/a
9	UBTF	chr15:40649945-40650742	K562	blood:	n/a	n/a
10	MXI1	chr15:40650353-40650715	K562	blood:	n/a	n/a
11	REST	chr15:40650118-40650752	Hela-S3	cervix:	n/a	chr15:40650484-40650498 chr15:40650649-40650658
12	SIN3AK20	chr15:40650181-40650772	H1-hESC	embryonic stem cell:	n/a	n/a
13	ZBTB7A	chr15:40649978-40651044	ECC-1	luminal epithelium:	n/a	n/a
14	SMARCB1	chr15:40649962-40651106	Hela-S3	cervix:	n/a	n/a
15	REST	chr15:40650176-40651047	HL-60	blood:	n/a	chr15:40650881-40650894 chr15:40650484-40650498 chr15:40650649-40650658
16	MAX	chr15:40649872-40650794	ECC-1	luminal epithelium:	n/a	n/a
17	RFX5	chr15:40650125-40650508	Hela-S3	cervix:	n/a	chr15:40650362-40650371
18	NRF1	chr15:40650215-40650594	H1-hESC	embryonic stem cell:	n/a	chr15:40650415-40650429 chr15:40650412-40650426 chr15:40650415-40650426 chr15:40650415-40650426 chr15:40650417-40650426
19	REST	chr15:40650245-40650723	PFSK-1	brain:	n/a	chr15:40650484-40650498 chr15:40650649-40650658
20	REST	chr15:40649928-40650776	SK-N-SH	brain:	n/a	chr15:40649968-40649981 chr15:40650484-40650498 chr15:40650054-40650067 chr15:40650649-40650658
21	MAX	chr15:40650322-40650714	NB4	blood:	n/a	n/a
22	REST	chr15:40650402-40650581	PANC-1	pancreas:	n/a	chr15:40650484-40650498
23	MXI1	chr15:40650113-40651105	H1-hESC	embryonic stem cell:	n/a	n/a
24	MAX	chr15:40649910-40650782	H1-hESC	embryonic stem cell:	n/a	n/a
25	NRF1	chr15:40650012-40650763	SK-N-SH	brain:	n/a	chr15:40650415-40650429 chr15:40650412-40650426 chr15:40650415-40650426 chr15:40650415-40650426 chr15:40650417-40650426
26	SP4	chr15:40650197-40650448	H1-hESC	embryonic stem cell:	n/a	n/a
27	SIN3AK20	chr15:40650357-40650733	K562	blood:	n/a	n/a
28	REST	chr15:40650052-40651081	H1-hESC	embryonic stem cell:	n/a	chr15:40650881-40650894 chr15:40650484-40650498 chr15:40650054-40650067 chr15:40650649-40650658
29	MXI1	chr15:40649834-40651754	IMR90	lung:	n/a	n/a
30	MAX	chr15:40650399-40650666	A549	lung:	n/a	n/a
31	MXI1	chr15:40650334-40650697	Hela-S3	cervix:	n/a	n/a
32	MAX	chr15:40649895-40650753	MCF-7	breast:	n/a	n/a
33	REST	chr15:40649894-40651045	SK-N-SH	brain:	n/a	chr15:40649968-40649981 chr15:40650881-40650894 chr15:40650484-40650498 chr15:40650054-40650067 chr15:40650649-40650658
34	NFYB	chr15:40650129-40650507	GM12878	blood:	n/a	chr15:40650362-40650372 chr15:40650359-40650374 chr15:40650360-40650374 chr15:40650359-40650374
35	MAX	chr15:40649911-40650764	K562	blood:	n/a	n/a
36	MAX	chr15:40649952-40650728	SK-N-SH	brain:	n/a	n/a
37	YY1	chr15:40650121-40650901	HepG2	liver:	n/a	n/a
38	ELF1	chr15:40650257-40650682	GM12878	blood:	n/a	n/a
39	REST	chr15:40650011-40651581	HL-60	blood:	n/a	chr15:40650881-40650894 chr15:40650484-40650498 chr15:40650054-40650067 chr15:40650649-40650658
40	REST	chr15:40650377-40650730	HepG2	liver:	n/a	chr15:40650484-40650498 chr15:40650649-40650658
41	HMGN3	chr15:40650123-40650703	K562	blood:	n/a	n/a
42	MAX	chr15:40649785-40650652	A549	lung:	n/a	n/a
43	REST	chr15:40650191-40650898	GM12878	blood:	n/a	chr15:40650881-40650894 chr15:40650484-40650498 chr15:40650649-40650658
44	MAX	chr15:40649975-40650706	SK-N-SH	brain:	n/a	n/a
45	MAZ	chr15:40649539-40651428	IMR90	lung:	n/a	n/a
46	EP300	chr15:40650153-40650676	H1-hESC	embryonic stem cell:	n/a	n/a
47	MAX	chr15:40650342-40650692	Hela-S3	cervix:	n/a	n/a
48	MXI1	chr15:40650231-40650712	GM12878	blood:	n/a	n/a
49	HDAC2	chr15:40650326-40650749	H1-hESC	embryonic stem cell:	n/a	n/a
50	REST	chr15:40650226-40651042	HCT-116	colon:	n/a	chr15:40650881-40650894 chr15:40650484-40650498 chr15:40650649-40650658

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:40649702..40654099-chr15:40655704..40659247,4	K562	blood:
2	chr15:40648717..40650505-chr15:40656910..40660408,3	MCF-7	breast:

Variant related genes	Relation type
DISP2	TF binding region
ENSG00000140323	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11634187	0.88[EUR][1000 genomes]
rs11636147	0.88[EUR][1000 genomes]
rs12905240	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12913300	0.80[AFR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16970633	0.87[EUR][1000 genomes]
rs2289328	0.90[EUR][1000 genomes]
rs35565646	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35777573	0.88[EUR][1000 genomes]
rs3803359	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3803360	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs71472433	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7164581	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7164606	0.88[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:10)

SNP	Gene	Cis/trans	Tissue	Source
rs56221586	CCDC32	Cis_1M	lymphoblastoid	RTeQTL
rs56221586	DISP2	cis	Esophagus Muscularis	GTEx
rs56221586	DISP2	cis	Nerve Tibial	GTEx
rs56221586	DISP2	cis	lung	GTEx
rs56221586	RP11-64K12.4	cis	Skin Sun Exposed Lower leg	GTEx
rs56221586	DISP2	cis	Muscle Skeletal	GTEx
rs56221586	DISP2	cis	Esophagus Mucosa	GTEx
rs56221586	DISP2	cis	Skin Sun Exposed Lower leg	GTEx
rs56221586	DISP2	cis	Adipose Subcutaneous	GTEx
rs56221586	RP11-64K12.4	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40648800-40651400	Enhancers	Stomach Mucosa	stomach
2	chr15:40649200-40651400	Active TSS	Rectal Smooth Muscle	rectum
3	chr15:40649600-40651000	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr15:40649600-40651400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr15:40649600-40651400	Enhancers	Fetal Heart	heart
6	chr15:40649800-40650800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr15:40649800-40650800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
8	chr15:40649800-40650800	Active TSS	Brain Hippocampus Middle	brain
9	chr15:40649800-40650800	Active TSS	Right Ventricle	heart
10	chr15:40649800-40651000	Active TSS	H1 Cell Line	embryonic stem cell
11	chr15:40649800-40651000	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr15:40649800-40651000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr15:40649800-40651000	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr15:40649800-40651000	Active TSS	Brain Angular Gyrus	brain
15	chr15:40649800-40651200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
16	chr15:40649800-40651200	Active TSS	H9 Cell Line	embryonic stem cell
17	chr15:40649800-40651200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr15:40649800-40651200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr15:40649800-40651200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr15:40649800-40651200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr15:40649800-40651200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr15:40649800-40651200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr15:40649800-40651200	Active TSS	Brain Germinal Matrix	brain
24	chr15:40649800-40651200	Active TSS	A549	lung
25	chr15:40649800-40651200	Active TSS	Hela-S3	cervix
26	chr15:40649800-40651400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr15:40650000-40650600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr15:40650000-40650600	Active TSS	Placenta Amnion	Placenta Amnion
29	chr15:40650000-40650800	Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr15:40650000-40650800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
31	chr15:40650000-40650800	Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr15:40650000-40650800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
33	chr15:40650000-40650800	Active TSS	Brain Cingulate Gyrus	brain
34	chr15:40650000-40650800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr15:40650000-40650800	Active TSS	Brain Substantia Nigra	brain
36	chr15:40650000-40650800	Active TSS	Colon Smooth Muscle	Colon
37	chr15:40650000-40650800	Active TSS	Right Atrium	heart
38	chr15:40650000-40650800	Active TSS	HepG2	liver
39	chr15:40650000-40650800	Active TSS	HSMMtube	muscle
40	chr15:40650000-40650800	Flanking Active TSS	HUVEC	blood vessel
41	chr15:40650000-40650800	Active TSS	NH-A	brain
42	chr15:40650000-40651000	Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr15:40650000-40651000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
44	chr15:40650000-40651000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr15:40650000-40651000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
46	chr15:40650000-40651000	Flanking Active TSS	Fetal Thymus	thymus
47	chr15:40650000-40651000	Active TSS	Ovary	ovary
48	chr15:40650000-40651000	Active TSS	Psoas Muscle	Psoas
49	chr15:40650000-40651200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr15:40650000-40651200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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