Variant report

Variant	rs72722446
Chromosome Location	chr1:92950921-92950922
allele	A/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	RUNX3	chr1:92949941-92952763	GM12878	blood:	n/a	chr1:92950835-92950850
2	MAX	chr1:92949938-92951680	ECC-1	luminal epithelium:	n/a	chr1:92949942-92949951 chr1:92951472-92951482
3	BHLHE40	chr1:92950889-92951855	GM12878	blood:	n/a	chr1:92951281-92951297 chr1:92951364-92951380
4	POLR2A	chr1:92947404-92952793	GM19193	blood:	n/a	n/a
5	RELA	chr1:92950123-92952753	GM19193	blood:	n/a	n/a
6	STAT5A	chr1:92949309-92951234	GM12878	blood:	n/a	chr1:92949399-92949411
7	ZEB1	chr1:92950584-92950955	GM12878	blood:	n/a	n/a
8	POLR2A	chr1:92950859-92951905	GM12878	blood:	n/a	n/a
9	CHD1	chr1:92949844-92951923	GM12878	blood:	n/a	n/a
10	EP300	chr1:92950759-92951887	GM12878	blood:	n/a	chr1:92951165-92951181 chr1:92951445-92951461
11	POLR2A	chr1:92950807-92951921	HCT-116	colon:	n/a	n/a
12	MXI1	chr1:92950052-92951962	GM12878	blood:	n/a	n/a
13	MAZ	chr1:92950794-92951847	K562	blood:	n/a	chr1:92951472-92951482
14	POLR2A	chr1:92949805-92951067	GM12892	blood:	n/a	n/a
15	POLR2A	chr1:92948302-92953063	GM12878	blood:	n/a	n/a
16	CTBP2	chr1:92947650-92951849	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr1:92950462-92951930	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr1:92949981-92951931	GM12878	blood:	n/a	n/a
19	RELA	chr1:92950111-92951944	GM18951	blood:	n/a	n/a
20	RCOR1	chr1:92950677-92951891	GM12878	blood:	n/a	n/a
21	SUZ12	chr1:92945372-92953085	NT2-D1	testis:	n/a	n/a
22	CTCF	chr1:92950920-92951070	HCM	heart:	n/a	n/a
23	CTCF	chr1:92950920-92951070	GM12869	blood:	n/a	n/a
24	ZNF143	chr1:92949952-92951877	GM12878	blood:	n/a	chr1:92950430-92950448 chr1:92950448-92950458
25	ZNF263	chr1:92949056-92952006	HEK293-T-REx	kidney:	n/a	chr1:92949398-92949407 chr1:92951239-92951248 chr1:92949255-92949264 chr1:92949422-92949431
26	POLR2A	chr1:92949883-92952028	GM12878	blood:	n/a	n/a
27	POLR2A	chr1:92947650-92952772	GM18951	blood:	n/a	n/a
28	POLR2A	chr1:92950217-92951943	HepG2	liver:	n/a	n/a
29	ELF1	chr1:92947785-92952063	GM12878	blood:	n/a	chr1:92949334-92949343 chr1:92949903-92949915 chr1:92949809-92949821 chr1:92951584-92951596
30	CTCF	chr1:92950912-92951031	GM19240	blood:	n/a	n/a
31	MAX	chr1:92950122-92951081	A549	lung:	n/a	n/a
32	MTA3	chr1:92950650-92951065	GM12878	blood:	n/a	n/a
33	RUNX3	chr1:92950618-92952049	GM12878	blood:	n/a	chr1:92950835-92950850
34	EGR1	chr1:92950032-92952031	HCT-116	colon:	n/a	chr1:92951290-92951300 chr1:92951485-92951498 chr1:92950289-92950303 chr1:92951523-92951533 chr1:92951486-92951495 chr1:92951485-92951498 chr1:92951074-92951084 chr1:92951286-92951300 chr1:92951523-92951536 chr1:92950956-92950969 chr1:92951709-92951718 chr1:92951480-92951502 chr1:92951772-92951782 chr1:92951485-92951498
35	POLR2A	chr1:92947824-92952778	GM18505	blood:	n/a	n/a
36	CTCF	chr1:92950293-92951902	GM12878	blood:	n/a	chr1:92950459-92950467 chr1:92951365-92951378 chr1:92951524-92951537 chr1:92951530-92951539
37	POLR2A	chr1:92945762-92951903	H1-neurons	neurons:	n/a	n/a
38	EBF1	chr1:92950499-92951147	GM12878	blood:	n/a	chr1:92950740-92950751
39	MYBL2	chr1:92950465-92951010	HepG2	liver:	n/a	n/a
40	ZEB1	chr1:92950595-92952074	HepG2	liver:	n/a	n/a
41	FOXM1	chr1:92950691-92951905	GM12878	blood:	n/a	n/a
42	BCLAF1	chr1:92950824-92951774	GM12878	blood:	n/a	chr1:92951518-92951531 chr1:92951284-92951297 chr1:92951516-92951529
43	MTA3	chr1:92949554-92952767	GM12878	blood:	n/a	n/a
44	CTCF	chr1:92950902-92951048	GM19239	blood:	n/a	n/a
45	POLR2A	chr1:92950875-92951134	GM12891	blood:	n/a	n/a
46	CTCF	chr1:92950899-92950921	GM19238	blood:	n/a	n/a
47	ZBTB7A	chr1:92949029-92951811	ECC-1	luminal epithelium:	n/a	chr1:92951364-92951373 chr1:92949308-92949317
48	HA-E2F1	chr1:92950527-92951934	MCF-7	breast:	n/a	chr1:92950716-92950723 chr1:92951363-92951372 chr1:92950961-92950970 chr1:92951133-92951143 chr1:92951831-92951846 chr1:92950716-92950723 chr1:92950716-92950723 chr1:92951286-92951296
49	TCF7L2	chr1:92950883-92951734	HCT-116	colon:	n/a	n/a
50	POLR2A	chr1:92946968-92951911	H1-neurons	neurons:	n/a	n/a

Variant related genes	Relation type
GFI1	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs72722428	1.00[AMR][1000 genomes]
rs72722472	1.00[AMR][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	nsv523354	chr1:92931263-93064823	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	esv3421594	chr1:92950889-92953737	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92945600-92952200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:92945600-92952600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr1:92945600-92952800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
4	chr1:92945800-92951800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:92946000-92951000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
6	chr1:92946000-92952000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr1:92946600-92952000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
8	chr1:92947000-92951800	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
9	chr1:92947000-92952000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
10	chr1:92947200-92951600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:92947400-92951200	Active TSS	Aorta	Aorta
12	chr1:92947400-92952000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
13	chr1:92947400-92952600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
14	chr1:92947600-92951200	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:92947600-92951200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
16	chr1:92947600-92952000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
17	chr1:92947600-92952000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
18	chr1:92947600-92952000	Flanking Bivalent TSS/Enh	Placenta	Placenta
19	chr1:92947600-92952200	Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr1:92947600-92952400	Active TSS	Thymus	Thymus
21	chr1:92947800-92951000	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
22	chr1:92947800-92951600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
23	chr1:92947800-92952000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:92947800-92952000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
25	chr1:92947800-92952600	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
26	chr1:92948000-92952000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
27	chr1:92948000-92952600	Bivalent/Poised TSS	Small Intestine	intestine
28	chr1:92948000-92952800	Flanking Active TSS	Primary B cells from cord blood	blood
29	chr1:92948200-92951200	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
30	chr1:92948200-92952000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
31	chr1:92948200-92952600	Bivalent Enhancer	Fetal Brain Male	brain
32	chr1:92948400-92951200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:92948400-92952600	Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr1:92948400-92953000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
35	chr1:92948600-92952200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr1:92948600-92952600	Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr1:92948600-92952800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr1:92948800-92952000	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:92949000-92951000	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
40	chr1:92949000-92951000	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
41	chr1:92949000-92953000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
42	chr1:92949200-92951000	Enhancers	Lung	lung
43	chr1:92949200-92951000	Weak transcription	Ovary	ovary
44	chr1:92949200-92952000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr1:92949200-92953400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr1:92949400-92951000	Flanking Active TSS	Right Ventricle	heart
47	chr1:92949400-92951200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
48	chr1:92949600-92951400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
49	chr1:92949600-92951800	Flanking Bivalent TSS/Enh	HMEC	breast
50	chr1:92949600-92952000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin

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