Variant report

Variant	rs536548503
Chromosome Location	chr4:147558128-147558129
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	REST	chr4:147557676-147558699	ECC-1	luminal epithelium:	n/a	chr4:147558211-147558231 chr4:147558211-147558225 chr4:147558217-147558226 chr4:147558212-147558230 chr4:147558211-147558231 chr4:147558211-147558231 chr4:147558222-147558231 chr4:147558215-147558228
2	MAZ	chr4:147558114-147558267	K562	blood:	n/a	n/a
3	MAX	chr4:147558007-147558507	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAX	chr4:147558052-147558440	ECC-1	luminal epithelium:	n/a	n/a
5	SPI1	chr4:147558108-147558273	K562	blood:	n/a	n/a
6	HMGN3	chr4:147558073-147558450	K562	blood:	n/a	n/a
7	HDAC2	chr4:147558083-147558482	MCF-7	breast:	n/a	chr4:147558235-147558244 chr4:147558212-147558231
8	TCF12	chr4:147558074-147558441	H1-hESC	embryonic stem cell:	n/a	n/a
9	REST	chr4:147557961-147558474	H1-neurons	neurons:	n/a	chr4:147558211-147558231 chr4:147558211-147558225 chr4:147558217-147558226 chr4:147558212-147558230 chr4:147558211-147558231 chr4:147558211-147558231 chr4:147558222-147558231 chr4:147558215-147558228
10	SIN3AK20	chr4:147558045-147558398	H1-hESC	embryonic stem cell:	n/a	n/a
11	REST	chr4:147557975-147558637	U87	brain:	n/a	chr4:147558211-147558231 chr4:147558211-147558225 chr4:147558217-147558226 chr4:147558212-147558230 chr4:147558211-147558231 chr4:147558211-147558231 chr4:147558222-147558231 chr4:147558215-147558228
12	SUZ12	chr4:147558103-147562402	NT2-D1	testis:	n/a	n/a
13	REST	chr4:147557813-147558646	A549	lung:	n/a	chr4:147558211-147558231 chr4:147558211-147558225 chr4:147558217-147558226 chr4:147558212-147558230 chr4:147558211-147558231 chr4:147558211-147558231 chr4:147558222-147558231 chr4:147558215-147558228
14	RCOR1	chr4:147558073-147558383	HepG2	liver:	n/a	n/a
15	REST	chr4:147557960-147558545	HCT-116	colon:	n/a	chr4:147558211-147558231 chr4:147558215-147558228 chr4:147558211-147558231 chr4:147558212-147558230 chr4:147558211-147558231 chr4:147558222-147558231 chr4:147558211-147558225 chr4:147558217-147558226
16	POLR2A	chr4:147557944-147558396	H1-neurons	neurons:	n/a	n/a
17	REST	chr4:147557786-147558746	HL-60	blood:	n/a	chr4:147558211-147558231 chr4:147558211-147558225 chr4:147558217-147558226 chr4:147558212-147558230 chr4:147558211-147558231 chr4:147558211-147558231 chr4:147558222-147558231 chr4:147558215-147558228
18	CTCF	chr4:147558100-147558250	AG09319	gingival:	n/a	n/a
19	REST	chr4:147557954-147558568	GM12878	blood:	n/a	chr4:147558211-147558231 chr4:147558211-147558225 chr4:147558217-147558226 chr4:147558212-147558230 chr4:147558211-147558231 chr4:147558211-147558231 chr4:147558222-147558231 chr4:147558215-147558228
20	REST	chr4:147557792-147558456	K562	blood:	n/a	chr4:147558211-147558231 chr4:147558211-147558225 chr4:147558217-147558226 chr4:147558212-147558230 chr4:147558211-147558231 chr4:147558211-147558231 chr4:147558222-147558231 chr4:147558215-147558228
21	HDAC2	chr4:147558000-147558386	H1-hESC	embryonic stem cell:	n/a	chr4:147558235-147558244 chr4:147558212-147558231
22	RAD21	chr4:147558032-147558338	SK-N-SH_RA	brain:	n/a	n/a
23	REST	chr4:147557859-147558562	MCF-7	breast:	n/a	chr4:147558211-147558231 chr4:147558211-147558225 chr4:147558217-147558226 chr4:147558212-147558230 chr4:147558211-147558231 chr4:147558211-147558231 chr4:147558222-147558231 chr4:147558215-147558228
24	REST	chr4:147557351-147559218	HL-60	blood:	n/a	chr4:147558211-147558231 chr4:147558211-147558225 chr4:147558217-147558226 chr4:147558212-147558230 chr4:147558211-147558231 chr4:147558211-147558231 chr4:147558222-147558231 chr4:147558215-147558228
25	CTCF	chr4:147558120-147558270	HRE	kidney:	n/a	n/a
26	SMC3	chr4:147558099-147558257	K562	blood:	n/a	n/a
27	REST	chr4:147557963-147558511	K562	blood:	n/a	chr4:147558211-147558231 chr4:147558211-147558225 chr4:147558217-147558226 chr4:147558212-147558230 chr4:147558211-147558231 chr4:147558211-147558231 chr4:147558222-147558231 chr4:147558215-147558228
28	REST	chr4:147557931-147558491	A549	lung:	n/a	chr4:147558211-147558231 chr4:147558211-147558225 chr4:147558217-147558226 chr4:147558212-147558230 chr4:147558211-147558231 chr4:147558211-147558231 chr4:147558222-147558231 chr4:147558215-147558228
29	RCOR1	chr4:147558065-147558388	K562	blood:	n/a	n/a
30	REST	chr4:147557876-147559217	PFSK-1	brain:	n/a	chr4:147558211-147558231 chr4:147558211-147558225 chr4:147558217-147558226 chr4:147558212-147558230 chr4:147558211-147558231 chr4:147558211-147558231 chr4:147558222-147558231 chr4:147558215-147558228
31	MAX	chr4:147558028-147558389	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTBP2	chr4:147557997-147558703	H1-hESC	embryonic stem cell:	n/a	n/a
33	RAD21	chr4:147558029-147558395	IMR90	lung:	n/a	n/a
34	ZNF143	chr4:147558060-147558377	K562	blood:	n/a	n/a
35	TEAD4	chr4:147557913-147558554	A549	lung:	n/a	n/a
36	SIN3A	chr4:147557995-147558556	H1-hESC	embryonic stem cell:	n/a	chr4:147558212-147558226 chr4:147558367-147558376 chr4:147558217-147558227
37	REST	chr4:147558022-147558515	HepG2	liver:	n/a	chr4:147558211-147558231 chr4:147558211-147558225 chr4:147558217-147558226 chr4:147558212-147558230 chr4:147558211-147558231 chr4:147558211-147558231 chr4:147558222-147558231 chr4:147558215-147558228
38	MAX	chr4:147558005-147558409	ECC-1	luminal epithelium:	n/a	n/a
39	REST	chr4:147558006-147558351	PANC-1	pancreas:	n/a	chr4:147558211-147558231 chr4:147558211-147558225 chr4:147558217-147558226 chr4:147558212-147558230 chr4:147558211-147558231 chr4:147558211-147558231 chr4:147558222-147558231 chr4:147558215-147558228
40	ELF1	chr4:147558127-147558415	K562	blood:	n/a	chr4:147558362-147558371 chr4:147558363-147558372
41	REST	chr4:147557942-147558469	SK-N-SH	brain:	n/a	chr4:147558211-147558231 chr4:147558211-147558225 chr4:147558217-147558226 chr4:147558212-147558230 chr4:147558211-147558231 chr4:147558211-147558231 chr4:147558222-147558231 chr4:147558215-147558228
42	ZNF263	chr4:147557972-147558595	HEK293-T-REx	kidney:	n/a	chr4:147558138-147558159
43	YY1	chr4:147558122-147558399	H1-hESC	embryonic stem cell:	n/a	n/a
44	REST	chr4:147557989-147558387	GM12878	blood:	n/a	chr4:147558211-147558231 chr4:147558211-147558225 chr4:147558217-147558226 chr4:147558212-147558230 chr4:147558211-147558231 chr4:147558211-147558231 chr4:147558222-147558231 chr4:147558215-147558228
45	SIN3AK20	chr4:147558032-147558388	SK-N-SH	brain:	n/a	n/a
46	REST	chr4:147557896-147558667	PFSK-1	brain:	n/a	chr4:147558211-147558231 chr4:147558211-147558225 chr4:147558217-147558226 chr4:147558212-147558230 chr4:147558211-147558231 chr4:147558211-147558231 chr4:147558222-147558231 chr4:147558215-147558228
47	ATF2	chr4:147558048-147558348	H1-hESC	embryonic stem cell:	n/a	chr4:147558317-147558331
48	REST	chr4:147557826-147558658	HepG2	liver:	n/a	chr4:147558211-147558231 chr4:147558211-147558225 chr4:147558217-147558226 chr4:147558212-147558230 chr4:147558211-147558231 chr4:147558211-147558231 chr4:147558222-147558231 chr4:147558215-147558228
49	REST	chr4:147557911-147558658	GM12878	blood:	n/a	chr4:147558211-147558231 chr4:147558211-147558225 chr4:147558217-147558226 chr4:147558212-147558230 chr4:147558211-147558231 chr4:147558211-147558231 chr4:147558222-147558231 chr4:147558215-147558228
50	POLR2A	chr4:147557874-147558465	H1-neurons	neurons:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:147558089-147558139	Jurkat	blood:	n/a
2	chr4:147558089-147558139	A549	lung:	n/a
3	chr4:147558089-147558139	NT2-D1	testis:	n/a
4	chr4:147558089-147558139	ovcar-3	ovarian:	n/a
5	chr4:147558089-147558139	HRE	kidney:	n/a
6	chr4:147558089-147558139	HRPEpiC	eye:	n/a
7	chr4:147558089-147558139	GM12878	blood:	n/a
8	chr4:147558089-147558139	HMEC	breast:	n/a
9	chr4:147558089-147558139	SK-N-SH_RA	brain:	n/a
10	chr4:147558089-147558139	HCM	heart:	n/a
11	chr4:147558089-147558139	HEK293	kidney:	embryo
12	chr4:147558089-147558139	CMK	blood:	n/a
13	chr4:147558089-147558139	AG09319	gingival:	n/a
14	chr4:147558089-147558139	RPTEC	kidney:	n/a
15	chr4:147558089-147558139	PrEC	prostate:	n/a
16	chr4:147558089-147558139	BE2_C	brain:	n/a
17	chr4:147558089-147558139	ECC-1	luminal epithelium:	n/a
18	chr4:147558089-147558139	H1-hESC	embryonic stem cell:	embryo
19	chr4:147558089-147558139	BJ	skin:	n/a
20	chr4:147558089-147558139	Hela-S3	cervix:	n/a
21	chr4:147558089-147558139	SKMC	muscle:	n/a
22	chr4:147558089-147558139	MCF-7	breast:	n/a
23	chr4:147558089-147558139	NH-A	brain:	n/a
24	chr4:147558089-147558139	HEEpiC	esophagus:	n/a
25	chr4:147558089-147558139	GM12891	blood:	n/a
26	chr4:147558089-147558139	LNCaP	prostate:	n/a
27	chr4:147558089-147558139	SK-N-MC	brain:	n/a
28	chr4:147558089-147558139	HUVEC	blood vessel:	n/a
29	chr4:147558089-147558139	AoSMC	blood vessel:	n/a
30	chr4:147558089-147558139	U87	brain:	n/a
31	chr4:147558089-147558139	Caco-2	colon:	n/a
32	chr4:147558089-147558139	HPAEpiC	pulmonary alveolar:	n/a
33	chr4:147558089-147558139	NHBE	bronchial:	n/a
34	chr4:147558089-147558139	PFSK-1	brain:	n/a
35	chr4:147558089-147558139	AG04449	skin:	fetal
36	chr4:147558089-147558139	IMR90	lung:	fetal
37	chr4:147558089-147558139	T-47D	breast:	n/a
38	chr4:147558089-147558139	NHDF-neo	bronchial:	n/a
39	chr4:147558089-147558139	ProgFib	skin:	n/a
40	chr4:147558089-147558139	HL-60	blood:	n/a
41	chr4:147558089-147558139	SAEC	small airway:	n/a
42	chr4:147558089-147558139	HNPCEpiC	eye:	n/a
43	chr4:147558089-147558139	HCF	heart:	n/a
44	chr4:147558089-147558139	HIPEpiC	eye:	n/a
45	chr4:147558089-147558139	AG10803	skin:	n/a
46	chr4:147558089-147558139	HCPEpiC	choroid plexus:	n/a
47	chr4:147558089-147558139	HepG2	liver:	n/a
48	chr4:147558089-147558139	HCT-116	colon:	n/a
49	chr4:147558089-147558139	AG09309	skin:	n/a
50	chr4:147558089-147558139	PANC-1	pancreas:	n/a

Variant related genes	Relation type
ENSG00000264323	TF binding region
POU4F2	TF binding region
POU4F2	CpG island
ENSG00000264323	CpG island

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461675	chr4:147116864-147768206	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv595651	chr4:147116864-147768206	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv830107	chr4:147452434-147635720	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv880238	chr4:147469559-147617963	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
5	esv2753640	chr4:147538395-147641395	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	esv2754145	chr4:147538395-147641395	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv822768	chr4:147556986-147562654	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147557800-147558200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
2	chr4:147558000-147558200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
3	chr4:147558000-147558200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:147558000-147558200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
5	chr4:147558000-147558200	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr4:147558000-147558200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr4:147558000-147558200	Bivalent Enhancer	HSMMtube	muscle
8	chr4:147558000-147558400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr4:147558000-147558400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr4:147558000-147558600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr4:147558000-147558800	Bivalent Enhancer	Esophagus	oesophagus
12	chr4:147558000-147558800	Bivalent Enhancer	Placenta	Placenta
13	chr4:147558000-147559000	Bivalent Enhancer	Fetal Heart	heart
14	chr4:147558000-147559200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
15	chr4:147558000-147559400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr4:147558000-147562000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
17	chr4:147558000-147562000	Enhancers	Pancreas	Pancrea

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