Variant report

Variant	rs542933487
Chromosome Location	chr1:212457975-212457976
allele	-/GTAGCTCTCTGGAGTTGCG
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	CHD2	chr1:212457861-212458990	H1-hESC	embryonic stem cell:	n/a	chr1:212458133-212458143
2	CREB1	chr1:212457781-212459330	K562	blood:	n/a	n/a
3	POLR2A	chr1:212457847-212460129	GM12878	blood:	n/a	n/a
4	HEY1	chr1:212457764-212460119	K562	blood:	n/a	chr1:212458622-212458637 chr1:212458619-212458634 chr1:212459091-212459106
5	PML	chr1:212457434-212459414	K562	blood:	n/a	n/a
6	NFIC	chr1:212457799-212459029	ECC-1	luminal epithelium:	n/a	n/a
7	TAF1	chr1:212457842-212458597	K562	blood:	n/a	n/a
8	SP1	chr1:212457883-212459124	K562	blood:	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
9	MXI1	chr1:212457870-212458886	H1-hESC	embryonic stem cell:	n/a	chr1:212458164-212458173
10	EP300	chr1:212457712-212458972	K562	blood:	n/a	chr1:212458249-212458263
11	NR2F2	chr1:212457551-212458977	K562	blood:	n/a	n/a
12	ELF1	chr1:212457874-212458981	K562	blood:	n/a	chr1:212458622-212458634
13	SIN3A	chr1:212457910-212460176	H1-hESC	embryonic stem cell:	n/a	chr1:212459223-212459236 chr1:212459395-212459408
14	EP300	chr1:212457836-212458937	GM12878	blood:	n/a	chr1:212458249-212458263
15	TBP	chr1:212457808-212460435	H1-hESC	embryonic stem cell:	n/a	n/a
16	ARID3A	chr1:212457762-212458752	K562	blood:	n/a	n/a
17	TAF1	chr1:212457868-212458548	PFSK-1	brain:	n/a	n/a
18	HEY1	chr1:212457738-212459082	HepG2	liver:	n/a	chr1:212458622-212458637 chr1:212458619-212458634
19	MAZ	chr1:212457626-212460137	K562	blood:	n/a	chr1:212459112-212459122 chr1:212458825-212458834 chr1:212458612-212458622
20	E2F4	chr1:212457846-212459887	K562	blood:	n/a	chr1:212458624-212458634 chr1:212459372-212459381 chr1:212458608-212458620 chr1:212458209-212458224 chr1:212458607-212458618 chr1:212458059-212458070 chr1:212458059-212458070 chr1:212458609-212458616 chr1:212458214-212458221 chr1:212458287-212458304 chr1:212458214-212458221 chr1:212458492-212458501 chr1:212458609-212458616 chr1:212458584-212458593 chr1:212458214-212458221 chr1:212458623-212458632 chr1:212458609-212458616
21	MXI1	chr1:212457792-212460313	HepG2	liver:	n/a	chr1:212458164-212458173
22	MXI1	chr1:212457665-212460793	IMR90	lung:	n/a	chr1:212458164-212458173
23	TAF1	chr1:212457930-212459823	HepG2	liver:	n/a	n/a
24	MAX	chr1:212457903-212459977	A549	lung:	n/a	chr1:212459112-212459122 chr1:212458825-212458834 chr1:212458612-212458622
25	IRF3	chr1:212457862-212458742	Hela-S3	cervix:	n/a	chr1:212458492-212458501 chr1:212458584-212458593
26	SIN3AK20	chr1:212457895-212458329	A549	lung:	n/a	n/a
27	USF1	chr1:212457937-212458393	HepG2	liver:	n/a	chr1:212458162-212458173
28	POLR2A	chr1:212457722-212460082	H1-hESC	embryonic stem cell:	n/a	n/a
29	CEBPB	chr1:212457912-212458762	A549	lung:	n/a	chr1:212458492-212458500 chr1:212458584-212458592
30	PML	chr1:212457571-212460295	GM12878	blood:	n/a	n/a
31	FOXA2	chr1:212457900-212458456	HepG2	liver:	n/a	n/a
32	TBP	chr1:212457785-212460094	K562	blood:	n/a	n/a
33	BCLAF1	chr1:212457873-212459111	GM12878	blood:	n/a	chr1:212459094-212459107 chr1:212459024-212459037 chr1:212458846-212458859 chr1:212458625-212458634 chr1:212458622-212458631
34	POLR2A	chr1:212457856-212459990	GM18526	blood:	n/a	n/a
35	TEAD4	chr1:212457778-212458935	K562	blood:	n/a	n/a
36	CEBPB	chr1:212457942-212458282	K562	blood:	n/a	n/a
37	MAZ	chr1:212457813-212460040	GM12878	blood:	n/a	chr1:212459112-212459122 chr1:212458825-212458834 chr1:212458612-212458622
38	ZNF143	chr1:212457946-212458893	H1-hESC	embryonic stem cell:	n/a	chr1:212458823-212458841
39	CBX3	chr1:212457562-212458992	K562	blood:	n/a	n/a
40	FOXA2	chr1:212457936-212459543	A549	lung:	n/a	n/a
41	NFIC	chr1:212457780-212459004	GM12878	blood:	n/a	n/a
42	BCL3	chr1:212457683-212458578	A549	lung:	n/a	n/a
43	TCF3	chr1:212457909-212458503	GM12878	blood:	n/a	n/a
44	MTA3	chr1:212457654-212458519	GM12878	blood:	n/a	n/a
45	POLR2A	chr1:212457794-212459129	GM12892	blood:	n/a	n/a
46	POLR2A	chr1:212457766-212459996	K562	blood:	n/a	n/a
47	CTCF	chr1:212457863-212458454	K562	blood:	n/a	chr1:212458403-212458412
48	POLR2A	chr1:212457933-212460028	MCF-7	breast:	n/a	n/a
49	GTF2F1	chr1:212457909-212458476	H1-hESC	embryonic stem cell:	n/a	n/a
50	MAX	chr1:212457842-212460382	NB4	blood:	n/a	chr1:212459112-212459122 chr1:212458825-212458834 chr1:212458612-212458622

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:212457968-212458018	HCT-116	colon:	n/a
2	chr1:212457968-212458018	GM12891	blood:	n/a
3	chr1:212457968-212458018	AG09319	gingival:	n/a
4	chr1:212457968-212458018	HRPEpiC	eye:	n/a
5	chr1:212457968-212458018	HRCEpiC	kidney:	n/a
6	chr1:212457968-212458018	IMR90	lung:	fetal
7	chr1:212457968-212458018	SAEC	small airway:	n/a
8	chr1:212457968-212458018	PrEC	prostate:	n/a
9	chr1:212457968-212458018	HCF	heart:	n/a
10	chr1:212457968-212458018	HMEC	breast:	n/a
11	chr1:212457968-212458018	AoSMC	blood vessel:	n/a
12	chr1:212457968-212458018	HCM	heart:	n/a
13	chr1:212457968-212458018	HCPEpiC	choroid plexus:	n/a
14	chr1:212457968-212458018	NHBE	bronchial:	n/a
15	chr1:212457968-212458018	Caco-2	colon:	n/a
16	chr1:212457968-212458018	PANC-1	pancreas:	n/a
17	chr1:212457968-212458018	MCF-7	breast:	n/a
18	chr1:212457968-212458018	HAEpiC	amniotic membrane:	n/a
19	chr1:212457968-212458018	NB4	blood:	n/a
20	chr1:212457968-212458018	T-47D	breast:	n/a
21	chr1:212457968-212458018	A549	lung:	n/a
22	chr1:212457968-212458018	GM12878	blood:	n/a
23	chr1:212457968-212458018	HEEpiC	esophagus:	n/a
24	chr1:212457968-212458018	AG09309	skin:	n/a
25	chr1:212457968-212458018	ovcar-3	ovarian:	n/a
26	chr1:212457968-212458018	HL-60	blood:	n/a
27	chr1:212457968-212458018	Hela-S3	cervix:	n/a
28	chr1:212457968-212458018	HNPCEpiC	eye:	n/a
29	chr1:212457968-212458018	PFSK-1	brain:	n/a
30	chr1:212457968-212458018	CMK	blood:	n/a
31	chr1:212457968-212458018	LNCaP	prostate:	n/a
32	chr1:212457968-212458018	SK-N-MC	brain:	n/a
33	chr1:212457968-212458018	HPAEpiC	pulmonary alveolar:	n/a
34	chr1:212457968-212458018	NH-A	brain:	n/a
35	chr1:212457968-212458018	BE2_C	brain:	n/a
36	chr1:212457968-212458018	ECC-1	luminal epithelium:	n/a
37	chr1:212457968-212458018	HepG2	liver:	n/a
38	chr1:212457968-212458018	MCF10A-Er-Src	breast:	n/a
39	chr1:212457968-212458018	HRE	kidney:	n/a
40	chr1:212457968-212458018	SK-N-SH_RA	brain:	n/a
41	chr1:212457968-212458018	GM12892	blood:	n/a
42	chr1:212457968-212458018	H1-hESC	embryonic stem cell:	embryo
43	chr1:212457968-212458018	HUVEC	blood vessel:	n/a
44	chr1:212457968-212458018	NT2-D1	testis:	n/a
45	chr1:212457968-212458018	K562	blood:	n/a
46	chr1:212457968-212458018	Hepatocyte	liver:	n/a
47	chr1:212457968-212458018	Jurkat	blood:	n/a
48	chr1:212457968-212458018	SKMC	muscle:	n/a
49	chr1:212457968-212458018	SK-N-SH	brain:	n/a
50	chr1:212457968-212458018	BJ	skin:	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	chr1:210546975..210548886-chr1:212457780..212460319,2	MCF-7	breast:
8	chr1:212457668..212459740-chr1:212480446..212483252,3	MCF-7	breast:
9	chr1:212401784..212403984-chr1:212456649..212458602,2	K562	blood:
10	chr1:212424523..212427087-chr1:212457087..212458716,2	K562	blood:
11	chr1:212247974..212251489-chr1:212456327..212461743,5	MCF-7	breast:
12	chr1:212207393..212212126-chr1:212456103..212460187,5	K562	blood:
13	chr1:212270755..212277124-chr1:212457942..212461824,7	K562	blood:

Variant related genes	Relation type
PPP2R5A	TF binding region
PPP2R5A	CpG island
ENSG00000143493	Chromatin interaction
ENSG00000200972	Chromatin interaction
ENSG00000225338	Chromatin interaction
ENSG00000143476	Chromatin interaction
ENSG00000252879	Chromatin interaction
ENSG00000162772	Chromatin interaction
ENSG00000264358	Chromatin interaction
ENSG00000226251	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 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
14	esv3442043	chr1:212457854-212460702	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 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	chr1:212457000-212458000	Flanking Active TSS	Primary T cells from cord blood	blood
2	chr1:212457000-212458200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr1:212457000-212458200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
4	chr1:212457000-212458200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr1:212457000-212461400	Active TSS	Duodenum Mucosa	Duodenum
6	chr1:212457000-212461600	Active TSS	Colonic Mucosa	Colon
7	chr1:212457200-212458000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
8	chr1:212457200-212458000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
9	chr1:212457200-212458000	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr1:212457200-212458000	Flanking Active TSS	Liver	Liver
11	chr1:212457200-212458000	Flanking Active TSS	Fetal Intestine Small	intestine
12	chr1:212457200-212458000	Enhancers	Spleen	Spleen
13	chr1:212457200-212458000	Flanking Active TSS	Hela-S3	cervix
14	chr1:212457200-212458200	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr1:212457200-212458200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
16	chr1:212457200-212458200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:212457200-212458200	Flanking Active TSS	Dnd41	blood
18	chr1:212457200-212458400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
19	chr1:212457200-212458400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr1:212457200-212460200	Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr1:212457200-212460400	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr1:212457200-212460400	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr1:212457200-212460800	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr1:212457200-212460800	Active TSS	Pancreas	Pancrea
25	chr1:212457200-212461000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr1:212457200-212461000	Active TSS	H9 Cell Line	embryonic stem cell
27	chr1:212457200-212461600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:212457200-212461600	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr1:212457400-212458000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:212457400-212458000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
31	chr1:212457400-212458000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr1:212457400-212458000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
33	chr1:212457400-212458000	Active TSS	Right Atrium	heart
34	chr1:212457400-212458000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr1:212457400-212458000	Flanking Active TSS	Thymus	Thymus
36	chr1:212457400-212458200	Flanking Active TSS	Primary hematopoietic stem cells	blood
37	chr1:212457400-212458200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
38	chr1:212457400-212458200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr1:212457400-212458400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
40	chr1:212457400-212458400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr1:212457400-212460600	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr1:212457400-212460600	Active TSS	Fetal Stomach	stomach
43	chr1:212457400-212461000	Active TSS	Stomach Mucosa	stomach
44	chr1:212457400-212461400	Active TSS	Fetal Intestine Large	intestine
45	chr1:212457400-212461800	Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr1:212457400-212463400	Active TSS	Right Ventricle	heart
47	chr1:212457600-212458000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr1:212457600-212458000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:212457600-212458000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr1:212457600-212458000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell

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