Variant report

Variant	rs1153781
Chromosome Location	chr10:50887651-50887652
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	MAX	chr10:50887337-50888128	H1-hESC	embryonic stem cell:	n/a	chr10:50887663-50887672 chr10:50887595-50887604 chr10:50887853-50887862
2	USF2	chr10:50887423-50887763	K562	blood:	n/a	chr10:50887514-50887530 chr10:50887594-50887603 chr10:50887596-50887605 chr10:50887595-50887604 chr10:50887593-50887606 chr10:50887595-50887604 chr10:50887589-50887610
3	ELK1	chr10:50887609-50887713	K562	blood:	n/a	n/a
4	MXI1	chr10:50886679-50888157	SK-N-SH	brain:	n/a	chr10:50887594-50887603
5	MYC	chr10:50887636-50887913	H1-hESC	embryonic stem cell:	n/a	chr10:50887663-50887672 chr10:50887853-50887862
6	EGR1	chr10:50887409-50887827	H1-hESC	embryonic stem cell:	n/a	chr10:50887662-50887671 chr10:50887661-50887674 chr10:50887662-50887672 chr10:50887660-50887675 chr10:50887662-50887673 chr10:50887660-50887674 chr10:50887662-50887672 chr10:50887662-50887673 chr10:50887661-50887674
7	USF1	chr10:50887313-50887907	SK-N-SH	brain:	n/a	chr10:50887514-50887530 chr10:50887594-50887603 chr10:50887596-50887605 chr10:50887595-50887604 chr10:50887593-50887606 chr10:50887595-50887604 chr10:50887589-50887610 chr10:50887593-50887604
8	GATA3	chr10:50887363-50887722	T-47D	breast:	n/a	n/a
9	USF1	chr10:50887457-50887706	GM12878	blood:	n/a	chr10:50887514-50887530 chr10:50887594-50887603 chr10:50887596-50887605 chr10:50887595-50887604 chr10:50887593-50887606 chr10:50887595-50887604 chr10:50887589-50887610 chr10:50887593-50887604
10	USF1	chr10:50887489-50887667	HepG2	liver:	n/a	chr10:50887514-50887530 chr10:50887594-50887603 chr10:50887596-50887605 chr10:50887595-50887604 chr10:50887593-50887606 chr10:50887595-50887604 chr10:50887589-50887610 chr10:50887593-50887604
11	USF1	chr10:50887290-50887854	H1-hESC	embryonic stem cell:	n/a	chr10:50887514-50887530 chr10:50887594-50887603 chr10:50887596-50887605 chr10:50887595-50887604 chr10:50887593-50887606 chr10:50887595-50887604 chr10:50887589-50887610 chr10:50887593-50887604
12	CEBPB	chr10:50887493-50887661	K562	blood:	n/a	n/a
13	USF1	chr10:50887259-50887769	K562	blood:	n/a	chr10:50887514-50887530 chr10:50887594-50887603 chr10:50887596-50887605 chr10:50887595-50887604 chr10:50887593-50887606 chr10:50887595-50887604 chr10:50887589-50887610 chr10:50887593-50887604
14	USF1	chr10:50887288-50887808	SK-N-SH_RA	brain:	n/a	chr10:50887514-50887530 chr10:50887594-50887603 chr10:50887596-50887605 chr10:50887595-50887604 chr10:50887593-50887606 chr10:50887595-50887604 chr10:50887589-50887610 chr10:50887593-50887604
15	MAX	chr10:50887332-50888092	H1-hESC	embryonic stem cell:	n/a	chr10:50887663-50887672 chr10:50887595-50887604 chr10:50887853-50887862
16	EGR1	chr10:50887436-50887845	K562	blood:	n/a	chr10:50887662-50887671 chr10:50887661-50887674 chr10:50887662-50887672 chr10:50887660-50887675 chr10:50887662-50887673 chr10:50887660-50887674 chr10:50887662-50887672 chr10:50887662-50887673 chr10:50887661-50887674
17	BACH1	chr10:50887334-50887920	H1-hESC	embryonic stem cell:	n/a	n/a
18	USF1	chr10:50887342-50887845	ECC-1	luminal epithelium:	n/a	chr10:50887514-50887530 chr10:50887594-50887603 chr10:50887596-50887605 chr10:50887595-50887604 chr10:50887593-50887606 chr10:50887595-50887604 chr10:50887589-50887610 chr10:50887593-50887604
19	EGR1	chr10:50887413-50887905	ECC-1	luminal epithelium:	n/a	chr10:50887662-50887671 chr10:50887661-50887674 chr10:50887662-50887672 chr10:50887660-50887675 chr10:50887662-50887673 chr10:50887660-50887674 chr10:50887662-50887672 chr10:50887662-50887673 chr10:50887661-50887674
20	E2F6	chr10:50887376-50887658	K562	blood:	n/a	n/a
21	CHD2	chr10:50887474-50887669	K562	blood:	n/a	n/a
22	USF1	chr10:50887317-50887756	K562	blood:	n/a	chr10:50887514-50887530 chr10:50887594-50887603 chr10:50887596-50887605 chr10:50887595-50887604 chr10:50887593-50887606 chr10:50887595-50887604 chr10:50887589-50887610 chr10:50887593-50887604
23	TBP	chr10:50887521-50887715	K562	blood:	n/a	n/a
24	MAZ	chr10:50887418-50887847	K562	blood:	n/a	chr10:50887663-50887672 chr10:50887595-50887604
25	MAX	chr10:50887229-50887839	ECC-1	luminal epithelium:	n/a	chr10:50887663-50887672 chr10:50887595-50887604
26	MAX	chr10:50887403-50887911	H1-hESC	embryonic stem cell:	n/a	chr10:50887663-50887672 chr10:50887595-50887604 chr10:50887853-50887862
27	SIN3A	chr10:50887085-50887967	H1-hESC	embryonic stem cell:	n/a	chr10:50887596-50887605 chr10:50887594-50887603 chr10:50887582-50887591
28	JUND	chr10:50887426-50887727	K562	blood:	n/a	n/a
29	ZNF143	chr10:50887498-50887854	H1-hESC	embryonic stem cell:	n/a	n/a
30	CEBPB	chr10:50887517-50888147	H1-hESC	embryonic stem cell:	n/a	chr10:50887970-50887981
31	ATF3	chr10:50887389-50887778	H1-hESC	embryonic stem cell:	n/a	chr10:50887595-50887615 chr10:50887595-50887604
32	TCF12	chr10:50887475-50887667	H1-hESC	embryonic stem cell:	n/a	n/a
33	USF1	chr10:50887284-50887938	SK-N-SH	brain:	n/a	chr10:50887514-50887530 chr10:50887594-50887603 chr10:50887596-50887605 chr10:50887595-50887604 chr10:50887593-50887606 chr10:50887595-50887604 chr10:50887589-50887610 chr10:50887593-50887604
34	GATA2	chr10:50887291-50887849	SH-SY5Y	brain:	n/a	n/a
35	CBX3	chr10:50887396-50887667	K562	blood:	n/a	n/a
36	USF2	chr10:50887433-50887716	GM12878	blood:	n/a	chr10:50887514-50887530 chr10:50887594-50887603 chr10:50887596-50887605 chr10:50887595-50887604 chr10:50887593-50887606 chr10:50887595-50887604 chr10:50887589-50887610
37	ELF1	chr10:50887518-50887926	K562	blood:	n/a	n/a
38	USF2	chr10:50887392-50887878	H1-hESC	embryonic stem cell:	n/a	chr10:50887514-50887530 chr10:50887594-50887603 chr10:50887596-50887605 chr10:50887595-50887604 chr10:50887593-50887606 chr10:50887595-50887604 chr10:50887589-50887610
39	CCNT2	chr10:50887452-50887816	K562	blood:	n/a	chr10:50887637-50887646
40	E2F6	chr10:50887398-50888065	H1-hESC	embryonic stem cell:	n/a	n/a
41	USF1	chr10:50887324-50887820	ECC-1	luminal epithelium:	n/a	chr10:50887514-50887530 chr10:50887594-50887603 chr10:50887596-50887605 chr10:50887595-50887604 chr10:50887593-50887606 chr10:50887595-50887604 chr10:50887589-50887610 chr10:50887593-50887604
42	TBP	chr10:50887493-50887932	H1-hESC	embryonic stem cell:	n/a	n/a
43	USF1	chr10:50887386-50887784	SK-N-SH_RA	brain:	n/a	chr10:50887514-50887530 chr10:50887594-50887603 chr10:50887596-50887605 chr10:50887595-50887604 chr10:50887593-50887606 chr10:50887595-50887604 chr10:50887589-50887610 chr10:50887593-50887604
44	E2F6	chr10:50887374-50887765	K562	blood:	n/a	n/a
45	EGR1	chr10:50887405-50887940	ECC-1	luminal epithelium:	n/a	chr10:50887662-50887671 chr10:50887661-50887674 chr10:50887662-50887672 chr10:50887660-50887675 chr10:50887662-50887673 chr10:50887660-50887674 chr10:50887662-50887672 chr10:50887662-50887673 chr10:50887661-50887674
46	MXI1	chr10:50887426-50887837	H1-hESC	embryonic stem cell:	n/a	chr10:50887594-50887603
47	CBX3	chr10:50887316-50887870	K562	blood:	n/a	n/a
48	EGR1	chr10:50887405-50887905	H1-hESC	embryonic stem cell:	n/a	chr10:50887662-50887671 chr10:50887661-50887674 chr10:50887662-50887672 chr10:50887660-50887675 chr10:50887662-50887673 chr10:50887660-50887674 chr10:50887662-50887672 chr10:50887662-50887673 chr10:50887661-50887674
49	BHLHE40	chr10:50887496-50887751	GM12878	blood:	n/a	chr10:50887514-50887530 chr10:50887594-50887603 chr10:50887596-50887605 chr10:50887595-50887604 chr10:50887593-50887606 chr10:50887595-50887604 chr10:50887589-50887610
50	MYC	chr10:50887451-50887836	K562	blood:	n/a	chr10:50887663-50887672 chr10:50887595-50887604

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:50887616-50887666	GM19239	blood:	n/a
2	chr10:50887616-50887666	NT2-D1	testis:	n/a
3	chr10:50887632-50887682	HIPEpiC	eye:	n/a
4	chr10:50887632-50887682	ovcar-3	ovarian:	n/a
5	chr10:50887632-50887682	Hela-S3	cervix:	n/a
6	chr10:50887632-50887682	PANC-1	pancreas:	n/a
7	chr10:50887632-50887682	HCPEpiC	choroid plexus:	n/a
8	chr10:50887632-50887682	K562	blood:	n/a
9	chr10:50887616-50887666	GM12891	blood:	n/a
10	chr10:50887632-50887682	HRPEpiC	eye:	n/a
11	chr10:50887632-50887682	HCT-116	colon:	n/a
12	chr10:50887632-50887682	GM12878	blood:	n/a
13	chr10:50887632-50887682	SK-N-SH	brain:	n/a
14	chr10:50887632-50887682	H1-hESC	embryonic stem cell:	embryo
15	chr10:50887632-50887682	NHDF-neo	bronchial:	n/a
16	chr10:50887632-50887682	AG04449	skin:	fetal
17	chr10:50887616-50887666	AG09319	gingival:	n/a
18	chr10:50887632-50887682	PrEC	prostate:	n/a
19	chr10:50887632-50887682	HMEC	breast:	n/a
20	chr10:50887616-50887666	AG09309	skin:	n/a
21	chr10:50887632-50887682	T-47D	breast:	n/a
22	chr10:50887616-50887666	ProgFib	skin:	n/a
23	chr10:50887632-50887682	Jurkat	blood:	n/a
24	chr10:50887616-50887666	MCF10A-Er-Src	breast:	n/a
25	chr10:50887616-50887666	HRPEpiC	eye:	n/a
26	chr10:50887616-50887666	HEK293	kidney:	embryo
27	chr10:50887616-50887666	AG04449	skin:	fetal
28	chr10:50887632-50887682	PFSK-1	brain:	n/a
29	chr10:50887616-50887666	BE2_C	brain:	n/a
30	chr10:50887632-50887682	HCF	heart:	n/a
31	chr10:50887632-50887682	ProgFib	skin:	n/a
32	chr10:50887616-50887666	HCF	heart:	n/a
33	chr10:50887632-50887682	AG04450	lung:	fetal
34	chr10:50887632-50887682	NB4	blood:	n/a
35	chr10:50887616-50887666	HAEpiC	amniotic membrane:	n/a
36	chr10:50887616-50887666	GM12878	blood:	n/a
37	chr10:50887616-50887666	SKMC	muscle:	n/a
38	chr10:50887632-50887682	MCF10A-Er-Src	breast:	n/a
39	chr10:50887632-50887682	Caco-2	colon:	n/a
40	chr10:50887616-50887666	ECC-1	luminal epithelium:	n/a
41	chr10:50887616-50887666	Hepatocyte	liver:	n/a
42	chr10:50887616-50887666	HCPEpiC	choroid plexus:	n/a
43	chr10:50887632-50887682	HNPCEpiC	eye:	n/a
44	chr10:50887616-50887666	CMK	blood:	n/a
45	chr10:50887616-50887666	NH-A	brain:	n/a
46	chr10:50887632-50887682	NHBE	bronchial:	n/a
47	chr10:50887632-50887682	HPAEpiC	pulmonary alveolar:	n/a
48	chr10:50887632-50887682	AG09309	skin:	n/a
49	chr10:50887616-50887666	SK-N-SH_RA	brain:	n/a
50	chr10:50887632-50887682	BE2_C	brain:	n/a

Variant related genes	Relation type
C10orf53	TF binding region
C10orf53	CpG island

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1025740	0.89[ASN][1000 genomes]
rs1025741	0.90[ASN][1000 genomes]
rs1025742	0.90[ASN][1000 genomes]
rs1153785	0.90[ASN][1000 genomes]
rs1153787	0.90[ASN][1000 genomes]
rs1153788	0.90[ASN][1000 genomes]
rs1153789	0.90[ASN][1000 genomes]
rs1153791	0.90[ASN][1000 genomes]
rs1153792	0.90[ASN][1000 genomes]
rs1153793	0.90[ASN][1000 genomes]
rs1153797	0.90[ASN][1000 genomes]
rs1258265	0.90[ASN][1000 genomes]
rs1258266	0.90[ASN][1000 genomes]
rs1258267	0.90[ASN][1000 genomes]
rs1258268	0.90[ASN][1000 genomes]
rs1258269	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	esv3346476	chr10:50610853-50987802	Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv3385048	chr10:50610942-50988537	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv1037405	chr10:50800817-50940545	Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv895378	chr10:50801342-50955649	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50886800-50888000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
2	chr10:50886800-50888000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr10:50886800-50888400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr10:50887000-50887800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
5	chr10:50887000-50887800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
6	chr10:50887000-50887800	Bivalent/Poised TSS	Fetal Brain Female	brain
7	chr10:50887000-50887800	Flanking Active TSS	K562	blood
8	chr10:50887000-50888000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr10:50887000-50888000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
10	chr10:50887000-50888000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
11	chr10:50887000-50888000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
12	chr10:50887000-50888000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr10:50887000-50888000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr10:50887000-50888200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
15	chr10:50887200-50887800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr10:50887200-50887800	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr10:50887200-50887800	Active TSS	Brain Substantia Nigra	brain
18	chr10:50887200-50887800	Bivalent Enhancer	Fetal Muscle Leg	muscle
19	chr10:50887200-50887800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
20	chr10:50887200-50888000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr10:50887200-50888000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr10:50887200-50888000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
23	chr10:50887200-50888000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr10:50887200-50888000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr10:50887200-50888000	Active TSS	Brain Hippocampus Middle	brain
26	chr10:50887200-50888000	Enhancers	Placenta	Placenta
27	chr10:50887200-50888000	Bivalent Enhancer	HMEC	breast
28	chr10:50887400-50887800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr10:50887400-50887800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr10:50887400-50887800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr10:50887400-50887800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr10:50887400-50887800	Bivalent Enhancer	Esophagus	oesophagus
33	chr10:50887400-50887800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
34	chr10:50887400-50887800	Bivalent Enhancer	Left Ventricle	heart
35	chr10:50887400-50888000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr10:50887400-50888000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr10:50887400-50888000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr10:50887400-50888000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
39	chr10:50887400-50888000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr10:50887400-50888000	Active TSS	Brain Anterior Caudate	brain
41	chr10:50887400-50888000	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr10:50887400-50888000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
43	chr10:50887400-50888000	Bivalent Enhancer	Fetal Thymus	thymus
44	chr10:50887400-50888000	ZNF genes & repeats	Pancreas	Pancrea
45	chr10:50887600-50887800	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr10:50887600-50887800	Active TSS	H9 Cell Line	embryonic stem cell
47	chr10:50887600-50887800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr10:50887600-50887800	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
49	chr10:50887600-50887800	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr10:50887600-50887800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain

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