Variant report

Variant	rs536706150
Chromosome Location	chr4:147558284-147558285
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	CTCF	chr4:147558180-147558330	NHEK	skin:	n/a	n/a
2	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
3	YY1	chr4:147558139-147558425	ECC-1	luminal epithelium:	n/a	n/a
4	CTCF	chr4:147558140-147558290	HBMEC	blood vessel:	n/a	n/a
5	CTCF	chr4:147558220-147558370	HEK293	kidney:	n/a	n/a
6	CTCF	chr4:147558140-147558290	SAEC	small airway:	n/a	n/a
7	CTCF	chr4:147558160-147558310	SAEC	small airway:	n/a	n/a
8	MAX	chr4:147558007-147558507	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAX	chr4:147558052-147558440	ECC-1	luminal epithelium:	n/a	n/a
10	HMGN3	chr4:147558073-147558450	K562	blood:	n/a	n/a
11	HDAC2	chr4:147558083-147558482	MCF-7	breast:	n/a	chr4:147558235-147558244 chr4:147558212-147558231
12	TCF12	chr4:147558074-147558441	H1-hESC	embryonic stem cell:	n/a	n/a
13	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
14	SIN3AK20	chr4:147558045-147558398	H1-hESC	embryonic stem cell:	n/a	n/a
15	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
16	SUZ12	chr4:147558103-147562402	NT2-D1	testis:	n/a	n/a
17	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
18	RCOR1	chr4:147558073-147558383	HepG2	liver:	n/a	n/a
19	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
20	CTCF	chr4:147558220-147558370	HRPEpiC	eye:	n/a	n/a
21	POLR2A	chr4:147557944-147558396	H1-neurons	neurons:	n/a	n/a
22	CTCF	chr4:147558140-147558290	AG09319	gingival:	n/a	n/a
23	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
24	POLR2A	chr4:147558147-147558331	H1-hESC	embryonic stem cell:	n/a	n/a
25	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
26	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
27	CTCF	chr4:147558140-147558290	BJ	skin:	n/a	n/a
28	HDAC2	chr4:147558000-147558386	H1-hESC	embryonic stem cell:	n/a	chr4:147558235-147558244 chr4:147558212-147558231
29	RAD21	chr4:147558032-147558338	SK-N-SH_RA	brain:	n/a	n/a
30	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
31	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
32	CTCF	chr4:147558200-147558350	NHDF-neo	bronchial:	n/a	n/a
33	CTCF	chr4:147558180-147558330	SK-N-SH_RA	brain:	n/a	n/a
34	CTCF	chr4:147558140-147558290	HMEC	breast:	n/a	n/a
35	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
36	CTCF	chr4:147558140-147558290	SK-N-SH_RA	brain:	n/a	n/a
37	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
38	RCOR1	chr4:147558065-147558388	K562	blood:	n/a	n/a
39	CTCF	chr4:147558160-147558310	AoAF	blood vessel:	n/a	n/a
40	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
41	CTCF	chr4:147558171-147558330	LNCaP	prostate:	n/a	n/a
42	MAX	chr4:147558028-147558389	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTBP2	chr4:147557997-147558703	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr4:147558169-147558310	GM12891	blood:	n/a	n/a
45	ELF1	chr4:147558138-147558422	GM12878	blood:	n/a	chr4:147558362-147558371 chr4:147558363-147558372
46	RAD21	chr4:147558029-147558395	IMR90	lung:	n/a	n/a
47	ZNF143	chr4:147558060-147558377	K562	blood:	n/a	n/a
48	TEAD4	chr4:147557913-147558554	A549	lung:	n/a	n/a
49	CTCF	chr4:147558180-147558330	BJ	skin:	n/a	n/a
50	CTCF	chr4:147558165-147558354	Fibrobl	skin:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:147558239-147558289	NB4	blood:	n/a
2	chr4:147558239-147558289	SKMC	muscle:	n/a
3	chr4:147558239-147558289	HRE	kidney:	n/a
4	chr4:147558239-147558289	SAEC	small airway:	n/a
5	chr4:147558239-147558289	AG09309	skin:	n/a
6	chr4:147558239-147558289	HPAEpiC	pulmonary alveolar:	n/a
7	chr4:147558239-147558289	HEK293	kidney:	embryo
8	chr4:147558239-147558289	NHDF-neo	bronchial:	n/a
9	chr4:147558239-147558289	IMR90	lung:	fetal
10	chr4:147558239-147558289	SK-N-SH_RA	brain:	n/a
11	chr4:147558239-147558289	GM12892	blood:	n/a
12	chr4:147558239-147558289	PANC-1	pancreas:	n/a
13	chr4:147558239-147558289	MCF-7	breast:	n/a
14	chr4:147558239-147558289	ProgFib	skin:	n/a
15	chr4:147558239-147558289	T-47D	breast:	n/a
16	chr4:147558239-147558289	AG09319	gingival:	n/a
17	chr4:147558239-147558289	PrEC	prostate:	n/a
18	chr4:147558239-147558289	HNPCEpiC	eye:	n/a
19	chr4:147558239-147558289	BE2_C	brain:	n/a
20	chr4:147558239-147558289	NH-A	brain:	n/a
21	chr4:147558239-147558289	AG10803	skin:	n/a
22	chr4:147558239-147558289	HAEpiC	amniotic membrane:	n/a
23	chr4:147558239-147558289	MCF10A-Er-Src	breast:	n/a
24	chr4:147558239-147558289	A549	lung:	n/a
25	chr4:147558239-147558289	K562	blood:	n/a
26	chr4:147558239-147558289	GM12878	blood:	n/a
27	chr4:147558239-147558289	HCPEpiC	choroid plexus:	n/a
28	chr4:147558239-147558289	Jurkat	blood:	n/a
29	chr4:147558239-147558289	ovcar-3	ovarian:	n/a
30	chr4:147558239-147558289	LNCaP	prostate:	n/a
31	chr4:147558239-147558289	SK-N-SH	brain:	n/a
32	chr4:147558239-147558289	HUVEC	blood vessel:	n/a
33	chr4:147558239-147558289	HCM	heart:	n/a
34	chr4:147558239-147558289	HepG2	liver:	n/a
35	chr4:147558239-147558289	RPTEC	kidney:	n/a
36	chr4:147558239-147558289	HCF	heart:	n/a
37	chr4:147558239-147558289	Hela-S3	cervix:	n/a
38	chr4:147558239-147558289	PFSK-1	brain:	n/a
39	chr4:147558239-147558289	HEEpiC	esophagus:	n/a
40	chr4:147558239-147558289	AG04449	skin:	fetal
41	chr4:147558239-147558289	HMEC	breast:	n/a
42	chr4:147558239-147558289	U87	brain:	n/a
43	chr4:147558239-147558289	GM19239	blood:	n/a
44	chr4:147558239-147558289	BJ	skin:	n/a
45	chr4:147558239-147558289	HIPEpiC	eye:	n/a
46	chr4:147558239-147558289	Caco-2	colon:	n/a
47	chr4:147558239-147558289	HL-60	blood:	n/a
48	chr4:147558239-147558289	GM12891	blood:	n/a
49	chr4:147558239-147558289	NT2-D1	testis:	n/a
50	chr4:147558239-147558289	HRCEpiC	kidney:	n/a

Variant related genes	Relation type
ENSG00000264323	TF binding region
POU4F2	TF binding region
ENSG00000264323	CpG island
POU4F2	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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147558000-147558400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr4:147558000-147558400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:147558000-147558600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr4:147558000-147558800	Bivalent Enhancer	Esophagus	oesophagus
5	chr4:147558000-147558800	Bivalent Enhancer	Placenta	Placenta
6	chr4:147558000-147559000	Bivalent Enhancer	Fetal Heart	heart
7	chr4:147558000-147559200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
8	chr4:147558000-147559400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr4:147558000-147562000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr4:147558000-147562000	Enhancers	Pancreas	Pancrea
11	chr4:147558200-147558400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
12	chr4:147558200-147558400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr4:147558200-147558400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
14	chr4:147558200-147558400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr4:147558200-147558400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr4:147558200-147558400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr4:147558200-147558400	Bivalent Enhancer	Small Intestine	intestine
18	chr4:147558200-147558400	Bivalent Enhancer	Stomach Mucosa	stomach
19	chr4:147558200-147558400	Bivalent/Poised TSS	HSMMtube	muscle
20	chr4:147558200-147558400	Bivalent Enhancer	Osteobl	bone
21	chr4:147558200-147558600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
22	chr4:147558200-147558600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr4:147558200-147558600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr4:147558200-147558600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr4:147558200-147558600	Bivalent/Poised TSS	Brain Anterior Caudate	brain
26	chr4:147558200-147558600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
27	chr4:147558200-147558600	Enhancers	Gastric	stomach
28	chr4:147558200-147558600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
29	chr4:147558200-147558600	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
30	chr4:147558200-147558800	Bivalent Enhancer	Brain Cingulate Gyrus	brain
31	chr4:147558200-147559000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr4:147558200-147559000	Enhancers	Right Ventricle	heart
33	chr4:147558200-147559200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr4:147558200-147559200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
35	chr4:147558200-147559200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr4:147558200-147560600	Bivalent/Poised TSS	NH-A	brain
37	chr4:147558200-147561200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
38	chr4:147558200-147561800	Bivalent Enhancer	Lung	lung
39	chr4:147558200-147562200	Bivalent Enhancer	Fetal Brain Male	brain

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