Variant report

Variant	rs569440712
Chromosome Location	chr1:212457764-212457765
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	HEY1	chr1:212457764-212460119	K562	blood:	n/a	chr1:212458622-212458637 chr1:212458619-212458634 chr1:212459091-212459106
2	PML	chr1:212457434-212459414	K562	blood:	n/a	n/a
3	EP300	chr1:212457712-212458972	K562	blood:	n/a	chr1:212458249-212458263
4	NR2F2	chr1:212457551-212458977	K562	blood:	n/a	n/a
5	ARID3A	chr1:212457762-212458752	K562	blood:	n/a	n/a
6	HEY1	chr1:212457738-212459082	HepG2	liver:	n/a	chr1:212458622-212458637 chr1:212458619-212458634
7	MAZ	chr1:212457626-212460137	K562	blood:	n/a	chr1:212459112-212459122 chr1:212458825-212458834 chr1:212458612-212458622
8	MXI1	chr1:212457665-212460793	IMR90	lung:	n/a	chr1:212458164-212458173
9	POLR2A	chr1:212457722-212460082	H1-hESC	embryonic stem cell:	n/a	n/a
10	PML	chr1:212457571-212460295	GM12878	blood:	n/a	n/a
11	CBX3	chr1:212457562-212458992	K562	blood:	n/a	n/a
12	BCL3	chr1:212457683-212458578	A549	lung:	n/a	n/a
13	MTA3	chr1:212457654-212458519	GM12878	blood:	n/a	n/a
14	HEY1	chr1:212457741-212458557	K562	blood:	n/a	n/a
15	SP1	chr1:212457665-212459180	HCT-116	colon:	n/a	chr1:212458830-212458839 chr1:212458521-212458530 chr1:212458829-212458841 chr1:212458611-212458620 chr1:212458642-212458654 chr1:212458221-212458235 chr1:212458701-212458710 chr1:212458615-212458627 chr1:212458699-212458711 chr1:212458700-212458709 chr1:212458248-212458269 chr1:212458615-212458627 chr1:212458826-212458840 chr1:212458610-212458624 chr1:212458617-212458626 chr1:212458699-212458711
16	POLR2A	chr1:212457579-212460426	GM12878	blood:	n/a	n/a
17	POLR2A	chr1:212457387-212460077	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr1:212457723-212460097	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAZ	chr1:212457494-212460070	IMR90	lung:	n/a	chr1:212459112-212459122 chr1:212458825-212458834 chr1:212458612-212458622
20	POLR2A	chr1:212457744-212460134	GM12892	blood:	n/a	n/a
21	IRF1	chr1:212457239-212458941	K562	blood:	n/a	chr1:212458492-212458501 chr1:212458584-212458593
22	NFIC	chr1:212457679-212458760	ECC-1	luminal epithelium:	n/a	n/a
23	MAX	chr1:212457601-212460601	A549	lung:	n/a	chr1:212459112-212459122 chr1:212458825-212458834 chr1:212458612-212458622
24	MTA3	chr1:212457750-212458501	GM12878	blood:	n/a	n/a
25	SP4	chr1:212457748-212458942	H1-hESC	embryonic stem cell:	n/a	chr1:212458609-212458625
26	MXI1	chr1:212457552-212461067	SK-N-SH	brain:	n/a	chr1:212458164-212458173
27	TEAD4	chr1:212457189-212459093	K562	blood:	n/a	n/a
28	SP1	chr1:212457599-212459244	HCT-116	colon:	n/a	chr1:212458830-212458839 chr1:212458521-212458530 chr1:212459189-212459201 chr1:212458829-212458841 chr1:212458611-212458620 chr1:212458642-212458654 chr1:212458221-212458235 chr1:212458701-212458710 chr1:212459195-212459207 chr1:212458615-212458627 chr1:212458699-212458711 chr1:212458700-212458709 chr1:212458248-212458269 chr1:212459189-212459201 chr1:212459191-212459200 chr1:212458615-212458627 chr1:212458826-212458840 chr1:212459195-212459207 chr1:212458610-212458624 chr1:212458617-212458626 chr1:212458699-212458711
29	POLR2A	chr1:212457564-212460045	K562	blood:	n/a	n/a
30	TCF12	chr1:212457756-212460535	A549	lung:	n/a	chr1:212458077-212458084 chr1:212458201-212458208 chr1:212460399-212460407 chr1:212458550-212458557
31	MBD4	chr1:212457744-212458491	HepG2	liver:	n/a	n/a
32	CCNT2	chr1:212457631-212460019	K562	blood:	n/a	chr1:212458617-212458626 chr1:212458221-212458230 chr1:212458830-212458839
33	RUNX3	chr1:212457575-212459106	GM12878	blood:	n/a	chr1:212458042-212458057 chr1:212458041-212458050 chr1:212458041-212458050
34	POLR2A	chr1:212457698-212459893	K562	blood:	n/a	n/a
35	MAX	chr1:212457712-212460217	K562	blood:	n/a	chr1:212459112-212459122 chr1:212458825-212458834 chr1:212458612-212458622
36	HCFC1	chr1:212457670-212461083	Hela-S3	cervix:	n/a	n/a
37	STAT5A	chr1:212457552-212460100	GM12878	blood:	n/a	chr1:212459197-212459209 chr1:212458281-212458293 chr1:212458418-212458430
38	NFYB	chr1:212457734-212458937	K562	blood:	n/a	chr1:212458582-212458595 chr1:212458256-212458270 chr1:212458584-212458596 chr1:212457800-212457812 chr1:212458490-212458505 chr1:212458583-212458593
39	NFYA	chr1:212457726-212459015	Hela-S3	cervix:	n/a	chr1:212458582-212458595 chr1:212458576-212458594 chr1:212458256-212458270 chr1:212458584-212458596 chr1:212457800-212457812 chr1:212458583-212458593
40	STAT5A	chr1:212457532-212458452	K562	blood:	n/a	chr1:212458281-212458293 chr1:212458418-212458430
41	MYC	chr1:212457299-212460087	K562	blood:	n/a	chr1:212459112-212459122 chr1:212458825-212458834 chr1:212458612-212458622
42	POLR2A	chr1:212457739-212460118	K562	blood:	n/a	n/a
43	POLR2A	chr1:212457670-212459156	HCT-116	colon:	n/a	n/a
44	MYC	chr1:212457697-212459925	MCF10A-Er-Src	breast:	n/a	chr1:212459112-212459122 chr1:212458825-212458834 chr1:212458612-212458622
45	POLR2A	chr1:212457696-212460156	Raji	blood:	n/a	n/a
46	POLR2A	chr1:212456992-212459316	K562	blood:	n/a	n/a
47	POLR2A	chr1:212457720-212460041	K562	blood:	n/a	n/a
48	POLR2A	chr1:212457330-212459882	HepG2	liver:	n/a	n/a
49	MYC	chr1:212457522-212459043	K562	blood:	n/a	chr1:212458825-212458834 chr1:212458612-212458622
50	UBTF	chr1:212457740-212460484	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:212456696..212458579-chr1:212781101..212782934,2	K562	blood:
2	chr1:212206622..212210088-chr1:212456790..212460936,6	K562	blood:
3	chr1:212412059..212414771-chr1:212457141..212460408,3	K562	blood:
4	chr1:212427390..212429185-chr1:212456996..212458799,2	K562	blood:
5	chr1:212413989..212416642-chr1:212457205..212458849,2	K562	blood:
6	chr1:212456717..212458394-chr1:212483325..212485097,2	MCF-7	breast:
7	chr1:212457668..212459740-chr1:212480446..212483252,3	MCF-7	breast:
8	chr1:212401784..212403984-chr1:212456649..212458602,2	K562	blood:
9	chr1:212424523..212427087-chr1:212457087..212458716,2	K562	blood:
10	chr1:212247974..212251489-chr1:212456327..212461743,5	MCF-7	breast:
11	chr1:212207393..212212126-chr1:212456103..212460187,5	K562	blood:

Variant related genes	Relation type
PPP2R5A	TF binding region
ENSG00000264358	Chromatin interaction
ENSG00000226251	Chromatin interaction
ENSG00000143476	Chromatin interaction
ENSG00000225338	Chromatin interaction
ENSG00000143493	Chromatin interaction
ENSG00000162772	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	nsv997629	chr1:212404489-212658785	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv535286	chr1:212404489-212658785	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	esv1799093	chr1:212447167-212468974	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	esv1800932	chr1:212447167-212468974	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	esv1839997	chr1:212447167-212468974	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv873155	chr1:212449195-212502157	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
10	esv1835118	chr1:212457414-212459623	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
11	esv1837179	chr1:212457414-212459623	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
12	esv1836019	chr1:212457414-212460077	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
13	esv1839887	chr1:212457414-212478047	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212457000-212457800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
2	chr1:212457000-212458000	Flanking Active TSS	Primary T cells from cord blood	blood
3	chr1:212457000-212458200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr1:212457000-212458200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
5	chr1:212457000-212458200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr1:212457000-212461400	Active TSS	Duodenum Mucosa	Duodenum
7	chr1:212457000-212461600	Active TSS	Colonic Mucosa	Colon
8	chr1:212457200-212457800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr1:212457200-212457800	Flanking Active TSS	A549	lung
10	chr1:212457200-212458000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
11	chr1:212457200-212458000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
12	chr1:212457200-212458000	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr1:212457200-212458000	Flanking Active TSS	Liver	Liver
14	chr1:212457200-212458000	Flanking Active TSS	Fetal Intestine Small	intestine
15	chr1:212457200-212458000	Enhancers	Spleen	Spleen
16	chr1:212457200-212458000	Flanking Active TSS	Hela-S3	cervix
17	chr1:212457200-212458200	Flanking Active TSS	Primary B cells from cord blood	blood
18	chr1:212457200-212458200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
19	chr1:212457200-212458200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:212457200-212458200	Flanking Active TSS	Dnd41	blood
21	chr1:212457200-212458400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
22	chr1:212457200-212458400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
23	chr1:212457200-212460200	Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr1:212457200-212460400	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr1:212457200-212460400	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr1:212457200-212460800	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr1:212457200-212460800	Active TSS	Pancreas	Pancrea
28	chr1:212457200-212461000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr1:212457200-212461000	Active TSS	H9 Cell Line	embryonic stem cell
30	chr1:212457200-212461600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:212457200-212461600	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr1:212457400-212457800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
33	chr1:212457400-212457800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr1:212457400-212457800	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr1:212457400-212457800	Enhancers	Brain Germinal Matrix	brain
36	chr1:212457400-212457800	Enhancers	Brain Hippocampus Middle	brain
37	chr1:212457400-212457800	Flanking Active TSS	Fetal Heart	heart
38	chr1:212457400-212457800	Enhancers	Placenta Amnion	Placenta Amnion
39	chr1:212457400-212457800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
40	chr1:212457400-212457800	Flanking Active TSS	GM12878-XiMat	blood
41	chr1:212457400-212457800	Flanking Active TSS	HMEC	breast
42	chr1:212457400-212458000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:212457400-212458000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr1:212457400-212458000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr1:212457400-212458000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
46	chr1:212457400-212458000	Active TSS	Right Atrium	heart
47	chr1:212457400-212458000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr1:212457400-212458000	Flanking Active TSS	Thymus	Thymus
49	chr1:212457400-212458200	Flanking Active TSS	Primary hematopoietic stem cells	blood
50	chr1:212457400-212458200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood

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