Variant report

Variant	rs3762842
Chromosome Location	chr4:147558564-147558565
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	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
3	SUZ12	chr4:147558103-147562402	NT2-D1	testis:	n/a	n/a
4	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
5	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
6	CTCF	chr4:147558420-147558570	HUVEC	blood vessel:	n/a	n/a
7	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
8	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
9	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
10	CTBP2	chr4:147557997-147558703	H1-hESC	embryonic stem cell:	n/a	n/a
11	ZNF263	chr4:147557972-147558595	HEK293-T-REx	kidney:	n/a	chr4:147558138-147558159
12	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
13	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
14	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
15	REST	chr4:147557770-147558778	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
16	REST	chr4:147557979-147558734	H1-hESC	embryonic stem cell:	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
17	REST	chr4:147557853-147558599	HCT-116	colon:	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	REST	chr4:147557889-147558729	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
19	REST	chr4:147557740-147558809	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
20	MXI1	chr4:147557761-147558576	IMR90	lung:	n/a	n/a
21	REST	chr4:147557937-147558767	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
22	REST	chr4:147557975-147558653	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
23	REST	chr4:147557985-147558565	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
24	REST	chr4:147557742-147558687	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
25	REST	chr4:147557932-147558698	H1-hESC	embryonic stem cell:	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	RCOR1	chr4:147557804-147558647	IMR90	lung:	n/a	n/a
27	REST	chr4:147557887-147558988	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
28	REST	chr4:147557879-147559246	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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:147558544-147558594	AG04449	skin:	fetal
2	chr4:147558544-147558594	HPAEpiC	pulmonary alveolar:	n/a
3	chr4:147558544-147558594	HIPEpiC	eye:	n/a
4	chr4:147558544-147558594	HRCEpiC	kidney:	n/a
5	chr4:147558544-147558594	NHDF-neo	bronchial:	n/a
6	chr4:147558544-147558594	HL-60	blood:	n/a
7	chr4:147558544-147558594	AoSMC	blood vessel:	n/a
8	chr4:147558544-147558594	HRPEpiC	eye:	n/a
9	chr4:147558544-147558594	AG10803	skin:	n/a
10	chr4:147558544-147558594	AG04450	lung:	fetal
11	chr4:147558544-147558594	CMK	blood:	n/a
12	chr4:147558544-147558594	SK-N-MC	brain:	n/a
13	chr4:147558544-147558594	T-47D	breast:	n/a
14	chr4:147558544-147558594	MCF10A-Er-Src	breast:	n/a
15	chr4:147558544-147558594	GM06990	blood:	n/a
16	chr4:147558544-147558594	K562	blood:	n/a
17	chr4:147558544-147558594	HCT-116	colon:	n/a
18	chr4:147558544-147558594	HUVEC	blood vessel:	n/a
19	chr4:147558544-147558594	PANC-1	pancreas:	n/a
20	chr4:147558544-147558594	HepG2	liver:	n/a
21	chr4:147558544-147558594	AG09309	skin:	n/a
22	chr4:147558544-147558594	PFSK-1	brain:	n/a
23	chr4:147558544-147558594	Hela-S3	cervix:	n/a
24	chr4:147558544-147558594	GM19239	blood:	n/a
25	chr4:147558544-147558594	NHBE	bronchial:	n/a
26	chr4:147558544-147558594	GM12891	blood:	n/a
27	chr4:147558544-147558594	NB4	blood:	n/a
28	chr4:147558544-147558594	GM12892	blood:	n/a
29	chr4:147558544-147558594	ProgFib	skin:	n/a
30	chr4:147558544-147558594	Jurkat	blood:	n/a
31	chr4:147558544-147558594	RPTEC	kidney:	n/a
32	chr4:147558544-147558594	HCPEpiC	choroid plexus:	n/a
33	chr4:147558544-147558594	LNCaP	prostate:	n/a
34	chr4:147558544-147558594	GM12878	blood:	n/a
35	chr4:147558544-147558594	SK-N-SH_RA	brain:	n/a
36	chr4:147558544-147558594	HCM	heart:	n/a
37	chr4:147558544-147558594	MCF-7	breast:	n/a
38	chr4:147558544-147558594	NH-A	brain:	n/a
39	chr4:147558544-147558594	A549	lung:	n/a
40	chr4:147558544-147558594	SKMC	muscle:	n/a
41	chr4:147558544-147558594	BJ	skin:	n/a
42	chr4:147558544-147558594	HAEpiC	amniotic membrane:	n/a
43	chr4:147558544-147558594	HEK293	kidney:	embryo
44	chr4:147558544-147558594	HNPCEpiC	eye:	n/a
45	chr4:147558544-147558594	HMEC	breast:	n/a
46	chr4:147558544-147558594	Caco-2	colon:	n/a
47	chr4:147558544-147558594	SAEC	small airway:	n/a
48	chr4:147558544-147558594	NT2-D1	testis:	n/a
49	chr4:147558544-147558594	SK-N-SH	brain:	n/a
50	chr4:147558544-147558594	BE2_C	brain:	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: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10005616	0.81[ASN][1000 genomes]
rs10011145	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10024327	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13134193	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13152799	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1910595	1.00[ASN][1000 genomes]
rs28478962	0.81[ASN][1000 genomes]
rs34375288	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3810843	0.81[ASN][1000 genomes]
rs3827594	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6537430	0.88[EUR][1000 genomes]
rs6856128	0.88[EUR][1000 genomes]

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:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147558000-147558600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:147558000-147558800	Bivalent Enhancer	Esophagus	oesophagus
3	chr4:147558000-147558800	Bivalent Enhancer	Placenta	Placenta
4	chr4:147558000-147559000	Bivalent Enhancer	Fetal Heart	heart
5	chr4:147558000-147559200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
6	chr4:147558000-147559400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:147558000-147562000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr4:147558000-147562000	Enhancers	Pancreas	Pancrea
9	chr4:147558200-147558600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
10	chr4:147558200-147558600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr4:147558200-147558600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr4:147558200-147558600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr4:147558200-147558600	Bivalent/Poised TSS	Brain Anterior Caudate	brain
14	chr4:147558200-147558600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
15	chr4:147558200-147558600	Enhancers	Gastric	stomach
16	chr4:147558200-147558600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
17	chr4:147558200-147558600	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
18	chr4:147558200-147558800	Bivalent Enhancer	Brain Cingulate Gyrus	brain
19	chr4:147558200-147559000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr4:147558200-147559000	Enhancers	Right Ventricle	heart
21	chr4:147558200-147559200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr4:147558200-147559200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
23	chr4:147558200-147559200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr4:147558200-147560600	Bivalent/Poised TSS	NH-A	brain
25	chr4:147558200-147561200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
26	chr4:147558200-147561800	Bivalent Enhancer	Lung	lung
27	chr4:147558200-147562200	Bivalent Enhancer	Fetal Brain Male	brain
28	chr4:147558400-147558600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
29	chr4:147558400-147558600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
30	chr4:147558400-147558600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
31	chr4:147558400-147558600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
32	chr4:147558400-147558600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr4:147558400-147558600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
34	chr4:147558400-147558600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
35	chr4:147558400-147558600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr4:147558400-147558600	Bivalent Enhancer	Adipose Nuclei	Adipose
37	chr4:147558400-147558600	Bivalent Enhancer	Liver	Liver
38	chr4:147558400-147558600	Bivalent Enhancer	Fetal Intestine Large	intestine
39	chr4:147558400-147558600	Bivalent Enhancer	Fetal Intestine Small	intestine
40	chr4:147558400-147558600	Bivalent Enhancer	Fetal Muscle Leg	muscle
41	chr4:147558400-147558600	Bivalent Enhancer	Left Ventricle	heart
42	chr4:147558400-147558600	Enhancers	Right Atrium	heart
43	chr4:147558400-147558600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
44	chr4:147558400-147558800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
45	chr4:147558400-147558800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
46	chr4:147558400-147559200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr4:147558400-147559200	Bivalent Enhancer	Brain Germinal Matrix	brain
48	chr4:147558400-147559200	Bivalent Enhancer	Brain Substantia Nigra	brain
49	chr4:147558400-147559200	Bivalent Enhancer	Fetal Brain Female	brain
50	chr4:147558400-147559400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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