Variant report

Variant	rs73279386
Chromosome Location	chr10:45458884-45458885
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:69)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:69 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr10:45458827-45459175	GM12878	blood:	n/a	n/a
2	SMC3	chr10:45458869-45459416	GM12878	blood:	n/a	n/a
3	MAX	chr10:45458784-45459266	H1-hESC	embryonic stem cell:	n/a	n/a
4	RUNX3	chr10:45458666-45460146	GM12878	blood:	n/a	n/a
5	ZNF263	chr10:45458376-45459207	HEK293-T-REx	kidney:	n/a	chr10:45458627-45458636 chr10:45458650-45458671
6	POLR2A	chr10:45457577-45464667	GM12878	blood:	n/a	n/a
7	FOXM1	chr10:45458809-45459317	GM12878	blood:	n/a	n/a
8	TCF3	chr10:45458634-45459216	GM12878	blood:	n/a	chr10:45459020-45459030 chr10:45458885-45458894
9	RELA	chr10:45458678-45460336	GM12891	blood:	n/a	n/a
10	POLR2A	chr10:45458708-45460253	GM19099	blood:	n/a	n/a
11	MXI1	chr10:45458751-45459992	GM12878	blood:	n/a	n/a
12	MAZ	chr10:45458811-45460038	GM12878	blood:	n/a	chr10:45459681-45459690
13	POLR2A	chr10:45458760-45462324	GM12891	blood:	n/a	n/a
14	MYC	chr10:45458700-45459217	NB4	blood:	n/a	n/a
15	MXI1	chr10:45458637-45460000	HepG2	liver:	n/a	n/a
16	TCF12	chr10:45458614-45459153	GM12878	blood:	n/a	chr10:45458694-45458704
17	RFX5	chr10:45458833-45459164	GM12878	blood:	n/a	n/a
18	POLR2A	chr10:45458829-45459102	GM12878	blood:	n/a	n/a
19	ELF1	chr10:45458748-45459128	GM12878	blood:	n/a	n/a
20	WRNIP1	chr10:45458658-45462963	GM12878	blood:	n/a	n/a
21	TBP	chr10:45458862-45459930	GM12878	blood:	n/a	n/a
22	POLR2A	chr10:45458313-45459329	GM12878	blood:	n/a	n/a
23	POLR2A	chr10:45458611-45459286	HL-60	blood:	n/a	n/a
24	POLR2A	chr10:45458224-45466240	HepG2	liver:	n/a	n/a
25	CHD1	chr10:45458846-45460041	GM12878	blood:	n/a	n/a
26	RELA	chr10:45458787-45460119	GM19099	blood:	n/a	n/a
27	TEAD4	chr10:45458819-45459138	H1-hESC	embryonic stem cell:	n/a	n/a
28	IKZF1	chr10:45458884-45459302	GM12878	blood:	n/a	n/a
29	MAX	chr10:45458710-45459249	HepG2	liver:	n/a	n/a
30	BACH1	chr10:45458777-45459179	H1-hESC	embryonic stem cell:	n/a	n/a
31	TCF12	chr10:45458836-45459138	H1-hESC	embryonic stem cell:	n/a	n/a
32	RCOR1	chr10:45458474-45460045	GM12878	blood:	n/a	n/a
33	SIN3A	chr10:45458815-45459085	H1-hESC	embryonic stem cell:	n/a	n/a
34	MTA3	chr10:45458691-45460039	GM12878	blood:	n/a	n/a
35	BHLHE40	chr10:45458809-45459955	GM12878	blood:	n/a	n/a
36	YY1	chr10:45458831-45459134	GM12891	blood:	n/a	n/a
37	NFIC	chr10:45458732-45460009	GM12878	blood:	n/a	n/a
38	POLR2A	chr10:45458690-45460049	GM18505	blood:	n/a	n/a
39	POLR2A	chr10:45458764-45460182	HepG2	liver:	n/a	n/a
40	CTCF	chr10:45458769-45459186	K562	blood:	n/a	chr10:45459054-45459063 chr10:45459054-45459067
41	NFYB	chr10:45458633-45459174	GM12878	blood:	n/a	n/a
42	CTCF	chr10:45458746-45459239	GM12878	blood:	n/a	chr10:45459054-45459063 chr10:45459054-45459067
43	TCF12	chr10:45458643-45459210	GM12878	blood:	n/a	chr10:45458694-45458704
44	MAX	chr10:45458753-45459211	NB4	blood:	n/a	n/a
45	TCF12	chr10:45458835-45459190	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr10:45458854-45459137	GM12878	blood:	n/a	n/a
47	POLR2A	chr10:45458411-45459268	HL-60	blood:	n/a	n/a
48	TBL1XR1	chr10:45458777-45460354	GM12878	blood:	n/a	n/a
49	ZEB1	chr10:45458848-45459117	GM12878	blood:	n/a	chr10:45458884-45458895
50	EBF1	chr10:45458727-45460061	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:45458834-45458884	BJ	skin:	n/a
2	chr10:45458834-45458884	HRCEpiC	kidney:	n/a
3	chr10:45458834-45458884	HUVEC	blood vessel:	n/a
4	chr10:45458834-45458884	SAEC	small airway:	n/a
5	chr10:45458834-45458884	HEK293	kidney:	embryo
6	chr10:45458834-45458884	HCT-116	colon:	n/a
7	chr10:45458834-45458884	SKMC	muscle:	n/a
8	chr10:45458834-45458884	IMR90	lung:	fetal
9	chr10:45458834-45458884	HAEpiC	amniotic membrane:	n/a
10	chr10:45458834-45458884	HEEpiC	esophagus:	n/a
11	chr10:45458834-45458884	Jurkat	blood:	n/a
12	chr10:45458834-45458884	T-47D	breast:	n/a
13	chr10:45458834-45458884	Hela-S3	cervix:	n/a
14	chr10:45458834-45458884	SK-N-MC	brain:	n/a
15	chr10:45458834-45458884	HRE	kidney:	n/a
16	chr10:45458834-45458884	AoSMC	blood vessel:	n/a
17	chr10:45458834-45458884	MCF10A-Er-Src	breast:	n/a
18	chr10:45458834-45458884	NB4	blood:	n/a
19	chr10:45458834-45458884	GM12892	blood:	n/a
20	chr10:45458834-45458884	AG10803	skin:	n/a
21	chr10:45458834-45458884	U87	brain:	n/a
22	chr10:45458834-45458884	NHBE	bronchial:	n/a
23	chr10:45458834-45458884	HRPEpiC	eye:	n/a
24	chr10:45458834-45458884	LNCaP	prostate:	n/a
25	chr10:45458834-45458884	GM06990	blood:	n/a
26	chr10:45458834-45458884	ovcar-3	ovarian:	n/a
27	chr10:45458834-45458884	AG09309	skin:	n/a
28	chr10:45458834-45458884	GM12891	blood:	n/a
29	chr10:45458834-45458884	PFSK-1	brain:	n/a
30	chr10:45458834-45458884	HNPCEpiC	eye:	n/a
31	chr10:45458834-45458884	H1-hESC	embryonic stem cell:	embryo
32	chr10:45458834-45458884	GM19239	blood:	n/a
33	chr10:45458834-45458884	A549	lung:	n/a
34	chr10:45458834-45458884	NT2-D1	testis:	n/a
35	chr10:45458834-45458884	AG09319	gingival:	n/a
36	chr10:45458834-45458884	PANC-1	pancreas:	n/a
37	chr10:45458834-45458884	HPAEpiC	pulmonary alveolar:	n/a
38	chr10:45458834-45458884	BE2_C	brain:	n/a
39	chr10:45458834-45458884	MCF-7	breast:	n/a
40	chr10:45458834-45458884	AG04450	lung:	fetal
41	chr10:45458834-45458884	NH-A	brain:	n/a
42	chr10:45458834-45458884	K562	blood:	n/a
43	chr10:45458834-45458884	HMEC	breast:	n/a
44	chr10:45458834-45458884	CMK	blood:	n/a
45	chr10:45458834-45458884	HCPEpiC	choroid plexus:	n/a
46	chr10:45458834-45458884	Caco-2	colon:	n/a
47	chr10:45458834-45458884	PrEC	prostate:	n/a
48	chr10:45458834-45458884	RPTEC	kidney:	n/a
49	chr10:45458834-45458884	HepG2	liver:	n/a
50	chr10:45458834-45458884	SK-N-SH_RA	brain:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:45452754..45457463-chr10:45457605..45460897,6	MCF-7	breast:
2	chr10:45453822..45456715-chr10:45457223..45459708,3	MCF-7	breast:
3	chr10:45453904..45457174-chr10:45457388..45460255,4	K562	blood:
4	chr10:45443748..45446726-chr10:45456991..45458960,2	MCF-7	breast:

No data

Variant related genes	Relation type
TMEM72-AS1	TF binding region
ENSG00000273363	TF binding region
TMEM72-AS1	CpG island
ENSG00000273363	CpG island
ENSG00000224812	Chromatin interaction
ENSG00000273363	Chromatin interaction
ENSG00000107551	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs17157448	0.84[AFR][1000 genomes]
rs57644166	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58139903	1.00[AMR][1000 genomes]
rs58684533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58720456	0.94[AFR][1000 genomes]
rs60575180	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60839064	1.00[AMR][1000 genomes]
rs7072240	0.84[AFR][1000 genomes]
rs73281403	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281405	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283447	1.00[AMR][1000 genomes]
rs73283451	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283455	1.00[AMR][1000 genomes]
rs73283462	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283464	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283470	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285555	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287556	1.00[AMR][1000 genomes]
rs73287562	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287567	0.90[AFR][1000 genomes]
rs73287569	0.90[AFR][1000 genomes]
rs73287573	0.84[AFR][1000 genomes]
rs73287578	0.84[AFR][1000 genomes]
rs73287579	0.84[AFR][1000 genomes]
rs73287582	0.84[AFR][1000 genomes]
rs73287584	0.84[AFR][1000 genomes]
rs73287589	0.84[AFR][1000 genomes]
rs73287599	0.84[AFR][1000 genomes]
rs73287601	0.84[AFR][1000 genomes]
rs73289603	0.84[AFR][1000 genomes]
rs73289605	0.84[AFR][1000 genomes]
rs73289610	0.84[AFR][1000 genomes]
rs73289682	0.84[AFR][1000 genomes]
rs73289688	0.84[AFR][1000 genomes]
rs73289692	0.84[AFR][1000 genomes]
rs73289694	0.89[AFR][1000 genomes]
rs73289697	0.89[AFR][1000 genomes]
rs73291604	0.89[AFR][1000 genomes]
rs73291615	0.94[AFR][1000 genomes]
rs7902733	0.84[AFR][1000 genomes]
rs7906497	0.84[AFR][1000 genomes]
rs7907860	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831845	chr10:45300268-45460395	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv831846	chr10:45322236-45556370	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1035235	chr10:45442303-45467948	Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv526734	chr10:45458485-45492054	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45455400-45462800	Flanking Active TSS	GM12878-XiMat	blood
2	chr10:45455600-45459200	Weak transcription	Hela-S3	cervix
3	chr10:45455600-45459400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr10:45455600-45462600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr10:45455600-45465200	Enhancers	Fetal Thymus	thymus
6	chr10:45455600-45465200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr10:45455800-45459400	Weak transcription	HMEC	breast
8	chr10:45455800-45459600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr10:45455800-45460600	Flanking Active TSS	Brain Hippocampus Middle	brain
10	chr10:45455800-45461400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr10:45455800-45463200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr10:45455800-45464000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr10:45455800-45465600	Weak transcription	Ovary	ovary
14	chr10:45456000-45459000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr10:45456000-45459200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr10:45456000-45459200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr10:45456000-45459600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr10:45456000-45459800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr10:45456000-45460800	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr10:45456000-45463000	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr10:45456000-45463400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr10:45456200-45459400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr10:45456200-45459400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr10:45456200-45459400	Weak transcription	NHLF	lung
25	chr10:45456200-45459600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr10:45456200-45460200	Flanking Active TSS	HepG2	liver
27	chr10:45456200-45463200	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr10:45456200-45463600	Weak transcription	Esophagus	oesophagus
29	chr10:45456200-45465000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr10:45456400-45459600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr10:45456400-45459800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
32	chr10:45456400-45461600	Weak transcription	Osteobl	bone
33	chr10:45456400-45466200	Weak transcription	Aorta	Aorta
34	chr10:45456600-45459000	Weak transcription	Fetal Brain Female	brain
35	chr10:45456600-45459000	Weak transcription	Stomach Mucosa	stomach
36	chr10:45456600-45461400	Enhancers	H1 Cell Line	embryonic stem cell
37	chr10:45456600-45461600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr10:45456600-45461800	Weak transcription	HUVEC	blood vessel
39	chr10:45456600-45462800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr10:45456800-45459200	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr10:45456800-45459200	Weak transcription	NHDF-Ad	bronchial
42	chr10:45456800-45459600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr10:45456800-45459600	Flanking Active TSS	Brain Cingulate Gyrus	brain
44	chr10:45456800-45460400	Flanking Active TSS	Fetal Muscle Trunk	muscle
45	chr10:45456800-45465200	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr10:45456800-45466600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr10:45457000-45459000	Enhancers	Fetal Heart	heart
48	chr10:45457000-45459200	Weak transcription	Fetal Kidney	kidney
49	chr10:45457000-45459200	Weak transcription	Small Intestine	intestine
50	chr10:45457000-45461200	Weak transcription	Primary neutrophils fromperipheralblood	blood

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