Variant report

Variant	rs1910595
Chromosome Location	chr4:147558237-147558238
allele	G/T
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	MAZ	chr4:147558114-147558267	K562	blood:	n/a	n/a
8	CTCF	chr4:147558160-147558310	SAEC	small airway:	n/a	n/a
9	MAX	chr4:147558007-147558507	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAX	chr4:147558052-147558440	ECC-1	luminal epithelium:	n/a	n/a
11	SPI1	chr4:147558108-147558273	K562	blood:	n/a	n/a
12	HMGN3	chr4:147558073-147558450	K562	blood:	n/a	n/a
13	HDAC2	chr4:147558083-147558482	MCF-7	breast:	n/a	chr4:147558235-147558244 chr4:147558212-147558231
14	TCF12	chr4:147558074-147558441	H1-hESC	embryonic stem cell:	n/a	n/a
15	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
16	SIN3AK20	chr4:147558045-147558398	H1-hESC	embryonic stem cell:	n/a	n/a
17	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
18	SUZ12	chr4:147558103-147562402	NT2-D1	testis:	n/a	n/a
19	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
20	RCOR1	chr4:147558073-147558383	HepG2	liver:	n/a	n/a
21	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
22	CTCF	chr4:147558220-147558370	HRPEpiC	eye:	n/a	n/a
23	POLR2A	chr4:147557944-147558396	H1-neurons	neurons:	n/a	n/a
24	CTCF	chr4:147558221-147558277	GM19239	blood:	n/a	n/a
25	CTCF	chr4:147558140-147558290	AG09319	gingival:	n/a	n/a
26	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
27	POLR2A	chr4:147558147-147558331	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr4:147558100-147558250	AG09319	gingival:	n/a	n/a
29	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
30	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
31	CTCF	chr4:147558140-147558290	BJ	skin:	n/a	n/a
32	HDAC2	chr4:147558000-147558386	H1-hESC	embryonic stem cell:	n/a	chr4:147558235-147558244 chr4:147558212-147558231
33	RAD21	chr4:147558032-147558338	SK-N-SH_RA	brain:	n/a	n/a
34	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
35	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
36	CTCF	chr4:147558120-147558270	HRE	kidney:	n/a	n/a
37	CTCF	chr4:147558200-147558350	NHDF-neo	bronchial:	n/a	n/a
38	CTCF	chr4:147558180-147558330	SK-N-SH_RA	brain:	n/a	n/a
39	SMC3	chr4:147558099-147558257	K562	blood:	n/a	n/a
40	CTCF	chr4:147558140-147558290	HMEC	breast:	n/a	n/a
41	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
42	CTCF	chr4:147558140-147558290	SK-N-SH_RA	brain:	n/a	n/a
43	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
44	RCOR1	chr4:147558065-147558388	K562	blood:	n/a	n/a
45	CTCF	chr4:147558160-147558310	AoAF	blood vessel:	n/a	n/a
46	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
47	CTCF	chr4:147558171-147558330	LNCaP	prostate:	n/a	n/a
48	MAX	chr4:147558028-147558389	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTBP2	chr4:147557997-147558703	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr4:147558169-147558310	GM12891	blood:	n/a	n/a

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

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10005616	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10011145	0.92[ASN][1000 genomes]
rs10024327	0.92[ASN][1000 genomes]
rs13134193	0.92[ASN][1000 genomes]
rs13152799	0.89[ASN][1000 genomes]
rs28478962	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34375288	0.85[ASN][1000 genomes]
rs35733768	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3762842	1.00[ASN][1000 genomes]
rs3810843	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][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: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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