Variant report

Variant	rs72722877
Chromosome Location	chr1:84326233-84326234
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	CTCF	chr1:84326200-84326350	AG09319	gingival:	n/a	chr1:84326285-84326301 chr1:84326286-84326299 chr1:84326284-84326302
2	CTCF	chr1:84326128-84326515	K562	blood:	n/a	chr1:84326435-84326444 chr1:84326285-84326301 chr1:84326286-84326299 chr1:84326284-84326302
3	GTF2F1	chr1:84326140-84326294	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr1:84326178-84326414	Gliobla	brain:	n/a	chr1:84326285-84326301 chr1:84326286-84326299 chr1:84326284-84326302
5	E2F6	chr1:84326206-84327035	A549	lung:	n/a	chr1:84326724-84326735 chr1:84326797-84326806
6	ZBTB7A	chr1:84326038-84326864	ECC-1	luminal epithelium:	n/a	chr1:84326285-84326294
7	CTCF	chr1:84326094-84326532	H1-hESC	embryonic stem cell:	n/a	chr1:84326435-84326444 chr1:84326285-84326301 chr1:84326286-84326299 chr1:84326284-84326302
8	CTCF	chr1:84326192-84326382	HepG2	liver:	n/a	chr1:84326285-84326301 chr1:84326286-84326299 chr1:84326284-84326302
9	CTCF	chr1:84326195-84326381	A549	lung:	n/a	chr1:84326285-84326301 chr1:84326286-84326299 chr1:84326284-84326302
10	CTCF	chr1:84326169-84326425	GM10248	blood:	n/a	chr1:84326285-84326301 chr1:84326286-84326299 chr1:84326284-84326302
11	CTCF	chr1:84326180-84326330	HMF	breast:	n/a	chr1:84326285-84326301 chr1:84326286-84326299 chr1:84326284-84326302
12	CTCF	chr1:84326200-84326350	GM12878	blood:	n/a	chr1:84326285-84326301 chr1:84326286-84326299 chr1:84326284-84326302
13	CTCF	chr1:84326158-84326396	Lung_OC	lung:	n/a	chr1:84326285-84326301 chr1:84326286-84326299 chr1:84326284-84326302
14	ZEB1	chr1:84326180-84326472	GM12878	blood:	n/a	n/a
15	TEAD4	chr1:84326071-84326368	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAX	chr1:84326114-84326389	K562	blood:	n/a	n/a
17	CTCF	chr1:84326180-84326330	HCM	heart:	n/a	chr1:84326285-84326301 chr1:84326286-84326299 chr1:84326284-84326302
18	PBX3	chr1:84326113-84326332	GM12878	blood:	n/a	chr1:84326252-84326261
19	BCLAF1	chr1:84326138-84326459	GM12878	blood:	n/a	chr1:84326388-84326401
20	CTCF	chr1:84326158-84326438	GM13977	blood:	n/a	chr1:84326285-84326301 chr1:84326286-84326299 chr1:84326284-84326302
21	MAX	chr1:84326092-84327035	H1-hESC	embryonic stem cell:	n/a	chr1:84326764-84326771 chr1:84326765-84326774 chr1:84326798-84326808 chr1:84326763-84326772 chr1:84326763-84326773
22	E2F6	chr1:84326092-84327152	H1-hESC	embryonic stem cell:	n/a	chr1:84326724-84326735 chr1:84326797-84326806
23	GTF2F1	chr1:84326183-84326281	K562	blood:	n/a	n/a
24	CTCF	chr1:84326195-84326386	Medullo	brain:	n/a	chr1:84326285-84326301 chr1:84326286-84326299 chr1:84326284-84326302
25	RAD21	chr1:84326153-84326396	GM12878	blood:	n/a	chr1:84326282-84326301
26	RAD21	chr1:84326152-84326364	A549	lung:	n/a	chr1:84326282-84326301
27	CTCF	chr1:84326200-84326350	HEK293	kidney:	n/a	chr1:84326285-84326301 chr1:84326286-84326299 chr1:84326284-84326302
28	CTCF	chr1:84325921-84326724	A549	lung:	n/a	chr1:84326435-84326444 chr1:84326285-84326301 chr1:84326286-84326299 chr1:84326284-84326302
29	SMC3	chr1:84326106-84326370	HepG2	liver:	n/a	chr1:84326286-84326300
30	CTCF	chr1:84326160-84326310	AG09319	gingival:	n/a	chr1:84326285-84326301 chr1:84326286-84326299 chr1:84326284-84326302
31	YY1	chr1:84326122-84326428	GM12891	blood:	n/a	n/a
32	CTCF	chr1:84326200-84326350	GM12801	blood:	n/a	chr1:84326285-84326301 chr1:84326286-84326299 chr1:84326284-84326302
33	SIN3A	chr1:84326084-84326881	H1-hESC	embryonic stem cell:	n/a	chr1:84326813-84326826
34	CTCF	chr1:84326220-84326370	GM12869	blood:	n/a	chr1:84326285-84326301 chr1:84326286-84326299 chr1:84326284-84326302
35	MAX	chr1:84326089-84327025	MCF-7	breast:	n/a	chr1:84326764-84326771 chr1:84326765-84326774 chr1:84326798-84326808 chr1:84326763-84326772 chr1:84326763-84326773
36	CTCF	chr1:84326220-84326370	SAEC	small airway:	n/a	chr1:84326285-84326301 chr1:84326286-84326299 chr1:84326284-84326302
37	CTCF	chr1:84326104-84326501	K562	blood:	n/a	chr1:84326435-84326444 chr1:84326285-84326301 chr1:84326286-84326299 chr1:84326284-84326302
38	GATA3	chr1:84326123-84326403	T-47D	breast:	n/a	n/a
39	RAD21	chr1:84326024-84326494	H1-hESC	embryonic stem cell:	n/a	chr1:84326282-84326301 chr1:84326387-84326401
40	ZNF143	chr1:84326118-84326466	GM12878	blood:	n/a	chr1:84326352-84326370
41	CTCF	chr1:84326174-84326409	Kidney_OC	kidney:	n/a	chr1:84326285-84326301 chr1:84326286-84326299 chr1:84326284-84326302
42	CTCF	chr1:84326159-84326418	GM10266	blood:	n/a	chr1:84326285-84326301 chr1:84326286-84326299 chr1:84326284-84326302
43	CTCF	chr1:84326200-84326350	AG09309	skin:	n/a	chr1:84326285-84326301 chr1:84326286-84326299 chr1:84326284-84326302
44	CTCF	chr1:84326220-84326370	GM12868	blood:	n/a	chr1:84326285-84326301 chr1:84326286-84326299 chr1:84326284-84326302
45	CTCF	chr1:84326146-84326449	MCF-7	breast:	n/a	chr1:84326435-84326444 chr1:84326285-84326301 chr1:84326286-84326299 chr1:84326284-84326302
46	CTCF	chr1:84326087-84326482	H1-hESC	embryonic stem cell:	n/a	chr1:84326435-84326444 chr1:84326285-84326301 chr1:84326286-84326299 chr1:84326284-84326302
47	GABPA	chr1:84326132-84326449	H1-hESC	embryonic stem cell:	n/a	n/a
48	RCOR1	chr1:84326114-84326386	K562	blood:	n/a	n/a
49	CTCF	chr1:84326168-84326382	HUVEC	blood vessel:	n/a	chr1:84326285-84326301 chr1:84326286-84326299 chr1:84326284-84326302
50	CTCF	chr1:84326220-84326370	HBMEC	blood vessel:	n/a	chr1:84326285-84326301 chr1:84326286-84326299 chr1:84326284-84326302

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:84326226-84326276	HRPEpiC	eye:	n/a
2	chr1:84326226-84326276	Jurkat	blood:	n/a
3	chr1:84326226-84326276	HCM	heart:	n/a
4	chr1:84326226-84326276	CMK	blood:	n/a
5	chr1:84326226-84326276	HRCEpiC	kidney:	n/a
6	chr1:84326185-84326235	BJ	skin:	n/a
7	chr1:84326185-84326235	HEK293	kidney:	embryo
8	chr1:84326185-84326235	GM12878	blood:	n/a
9	chr1:84326226-84326276	Hepatocyte	liver:	n/a
10	chr1:84326226-84326276	HMEC	breast:	n/a
11	chr1:84326185-84326235	SKMC	muscle:	n/a
12	chr1:84326185-84326235	HepG2	liver:	n/a
13	chr1:84326226-84326276	AoSMC	blood vessel:	n/a
14	chr1:84326226-84326276	Hela-S3	cervix:	n/a
15	chr1:84326185-84326235	RPTEC	kidney:	n/a
16	chr1:84326185-84326235	HCPEpiC	choroid plexus:	n/a
17	chr1:84326226-84326276	GM12892	blood:	n/a
18	chr1:84326226-84326276	GM06990	blood:	n/a
19	chr1:84326185-84326235	HCF	heart:	n/a
20	chr1:84326185-84326235	SK-N-SH	brain:	n/a
21	chr1:84326226-84326276	SK-N-MC	brain:	n/a
22	chr1:84326185-84326235	H1-hESC	embryonic stem cell:	embryo
23	chr1:84326226-84326276	HUVEC	blood vessel:	n/a
24	chr1:84326185-84326235	CMK	blood:	n/a
25	chr1:84326226-84326276	Caco-2	colon:	n/a
26	chr1:84326226-84326276	NHDF-neo	bronchial:	n/a
27	chr1:84326226-84326276	HIPEpiC	eye:	n/a
28	chr1:84326226-84326276	AG09319	gingival:	n/a
29	chr1:84326226-84326276	HCF	heart:	n/a
30	chr1:84326185-84326235	HEEpiC	esophagus:	n/a
31	chr1:84326185-84326235	NHBE	bronchial:	n/a
32	chr1:84326226-84326276	SK-N-SH	brain:	n/a
33	chr1:84326185-84326235	ProgFib	skin:	n/a
34	chr1:84326185-84326235	PFSK-1	brain:	n/a
35	chr1:84326226-84326276	HPAEpiC	pulmonary alveolar:	n/a
36	chr1:84326185-84326235	PANC-1	pancreas:	n/a
37	chr1:84326226-84326276	H1-hESC	embryonic stem cell:	embryo
38	chr1:84326185-84326235	HNPCEpiC	eye:	n/a
39	chr1:84326185-84326235	HL-60	blood:	n/a
40	chr1:84326185-84326235	HIPEpiC	eye:	n/a
41	chr1:84326185-84326235	LNCaP	prostate:	n/a
42	chr1:84326185-84326235	IMR90	lung:	fetal
43	chr1:84326185-84326235	SAEC	small airway:	n/a
44	chr1:84326226-84326276	MCF-7	breast:	n/a
45	chr1:84326226-84326276	HEK293	kidney:	embryo
46	chr1:84326185-84326235	PrEC	prostate:	n/a
47	chr1:84326185-84326235	Hela-S3	cervix:	n/a
48	chr1:84326226-84326276	HepG2	liver:	n/a
49	chr1:84326185-84326235	NT2-D1	testis:	n/a
50	chr1:84326185-84326235	MCF10A-Er-Src	breast:	n/a

Variant related genes	Relation type
ENSG00000233008	TF binding region
ENSG00000233008	CpG island

rs_ID	r²[population]
rs72711164	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72719389	1.00[AFR][1000 genomes]
rs72719401	1.00[AFR][1000 genomes]
rs72720646	1.00[AFR][1000 genomes]
rs72722887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72722890	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72724911	1.00[EUR][1000 genomes]

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84320400-84326400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:84323400-84327000	Weak transcription	Fetal Heart	heart
3	chr1:84324200-84327000	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr1:84325600-84326400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr1:84325800-84326400	Active TSS	GM12878-XiMat	blood
6	chr1:84325800-84326800	Active TSS	Brain Cingulate Gyrus	brain
7	chr1:84325800-84327000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:84325800-84327000	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr1:84325800-84327200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:84325800-84327200	Flanking Active TSS	NHEK	skin
11	chr1:84326000-84326400	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr1:84326000-84326400	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr1:84326000-84326400	Enhancers	Stomach Mucosa	stomach
14	chr1:84326000-84326400	Active TSS	Monocytes-CD14+_RO01746	blood
15	chr1:84326000-84326600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr1:84326000-84326600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
17	chr1:84326000-84326600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr1:84326000-84326600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr1:84326000-84326600	Active TSS	Brain Hippocampus Middle	brain
20	chr1:84326000-84326600	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr1:84326000-84326600	Active TSS	Stomach Smooth Muscle	stomach
22	chr1:84326000-84326600	Active TSS	Thymus	Thymus
23	chr1:84326000-84326800	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr1:84326000-84326800	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr1:84326000-84326800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:84326000-84326800	Active TSS	Brain Angular Gyrus	brain
27	chr1:84326000-84326800	Active TSS	Brain Anterior Caudate	brain
28	chr1:84326000-84326800	Active TSS	Brain Substantia Nigra	brain
29	chr1:84326000-84326800	Active TSS	Pancreas	Pancrea
30	chr1:84326000-84327000	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr1:84326000-84327000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:84326000-84327000	Active TSS	Aorta	Aorta
33	chr1:84326000-84327000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr1:84326000-84327000	Active TSS	Fetal Kidney	kidney
35	chr1:84326000-84327000	Active TSS	A549	lung
36	chr1:84326000-84327000	Flanking Active TSS	HMEC	breast
37	chr1:84326000-84327000	Active TSS	HUVEC	blood vessel
38	chr1:84326000-84327200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr1:84326200-84326400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr1:84326200-84326400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr1:84326200-84326400	Enhancers	Primary B cells from cord blood	blood
42	chr1:84326200-84326400	Active TSS	Primary hematopoietic stem cells	blood
43	chr1:84326200-84326400	Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr1:84326200-84326400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:84326200-84326400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr1:84326200-84326400	Active TSS	Colonic Mucosa	Colon
47	chr1:84326200-84326400	Active TSS	Colon Smooth Muscle	Colon
48	chr1:84326200-84326400	Flanking Active TSS	Esophagus	oesophagus
49	chr1:84326200-84326400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr1:84326200-84326400	Flanking Bivalent TSS/Enh	Placenta	Placenta

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