Variant report

Variant	rs4695826
Chromosome Location	chr4:174089426-174089427
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:291)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:291 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:174089073-174090241	U87	brain:	n/a	n/a
2	IRF1	chr4:174088957-174090113	K562	blood:	n/a	chr4:174089103-174089110 chr4:174089370-174089379 chr4:174089416-174089425 chr4:174089607-174089619 chr4:174089096-174089110
3	POLR2A	chr4:174088947-174090256	PANC-1	pancreas:	n/a	n/a
4	MYC	chr4:174089254-174089494	MCF-7	breast:	n/a	chr4:174089336-174089346
5	POLR2A	chr4:174089003-174090139	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr4:174088965-174091465	HL-60	blood:	n/a	n/a
7	EBF1	chr4:174089004-174089718	GM12878	blood:	n/a	n/a
8	POLR2A	chr4:174089263-174090214	Hela-S3	cervix:	n/a	n/a
9	MAZ	chr4:174088930-174091911	IMR90	lung:	n/a	chr4:174089336-174089346 chr4:174091392-174091402
10	MAX	chr4:174089111-174089511	K562	blood:	n/a	chr4:174089336-174089346
11	MYC	chr4:174089223-174089571	Hela-S3	cervix:	n/a	chr4:174089336-174089346
12	STAT3	chr4:174089356-174089520	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr4:174088782-174094458	PANC-1	pancreas:	n/a	n/a
14	CUX1	chr4:174089103-174089508	GM12878	blood:	n/a	n/a
15	ELF1	chr4:174089193-174089463	HepG2	liver:	n/a	chr4:174089372-174089383
16	MAZ	chr4:174089005-174091630	K562	blood:	n/a	chr4:174089336-174089346 chr4:174091392-174091402
17	EP300	chr4:174088907-174089476	GM12878	blood:	n/a	chr4:174089301-174089315
18	TBP	chr4:174089052-174090220	K562	blood:	n/a	n/a
19	REST	chr4:174088970-174091683	H1-neurons	neurons:	n/a	chr4:174089347-174089365 chr4:174089565-174089573
20	POLR2A	chr4:174089067-174091578	GM19099	blood:	n/a	n/a
21	POLR2A	chr4:174089018-174091441	K562	blood:	n/a	n/a
22	RELA	chr4:174089051-174091620	GM12891	blood:	n/a	n/a
23	CHD2	chr4:174089048-174090124	K562	blood:	n/a	n/a
24	MAX	chr4:174088996-174089707	MCF-7	breast:	n/a	chr4:174089336-174089346
25	TCF12	chr4:174089013-174090407	ECC-1	luminal epithelium:	n/a	n/a
26	POLR2A	chr4:174088863-174091516	GM18526	blood:	n/a	n/a
27	POLR2A	chr4:174089313-174089503	A549	lung:	n/a	n/a
28	SIN3AK20	chr4:174089192-174089451	PFSK-1	brain:	n/a	n/a
29	ELK4	chr4:174089334-174089838	Hela-S3	cervix:	n/a	n/a
30	ELF1	chr4:174089042-174091391	GM12878	blood:	n/a	chr4:174091210-174091222 chr4:174091234-174091243 chr4:174089372-174089383
31	POLR2A	chr4:174089275-174091488	ECC-1	luminal epithelium:	n/a	n/a
32	ATF2	chr4:174089161-174090256	GM12878	blood:	n/a	n/a
33	NFIC	chr4:174088972-174089929	GM12878	blood:	n/a	n/a
34	POLR2A	chr4:174088971-174091378	K562	blood:	n/a	n/a
35	MYC	chr4:174089012-174089981	K562	blood:	n/a	chr4:174089336-174089346
36	MAX	chr4:174088927-174091694	Hela-S3	cervix:	n/a	chr4:174089336-174089346 chr4:174091392-174091402
37	RAD21	chr4:174089314-174090117	H1-hESC	embryonic stem cell:	n/a	chr4:174089492-174089504
38	ZMIZ1	chr4:174089132-174090119	K562	blood:	n/a	n/a
39	MYC	chr4:174089026-174089960	H1-hESC	embryonic stem cell:	n/a	chr4:174089336-174089346
40	EP300	chr4:174089059-174090191	ECC-1	luminal epithelium:	n/a	chr4:174089301-174089315 chr4:174089470-174089479
41	E2F6	chr4:174089305-174089487	K562	blood:	n/a	chr4:174089473-174089482
42	TEAD4	chr4:174088863-174090008	K562	blood:	n/a	n/a
43	SMC3	chr4:174088897-174089823	GM12878	blood:	n/a	n/a
44	MYC	chr4:174088892-174090213	K562	blood:	n/a	chr4:174089336-174089346
45	SPI1	chr4:174089196-174089563	GM12891	blood:	n/a	n/a
46	USF2	chr4:174089362-174089482	K562	blood:	n/a	n/a
47	TCF12	chr4:174088969-174089979	A549	lung:	n/a	n/a
48	POLR2A	chr4:174089029-174091518	GM15510	blood:	n/a	n/a
49	POLR2A	chr4:174089127-174090108	SK-N-MC	brain:	n/a	n/a
50	STAT5A	chr4:174089188-174090167	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:174089402-174089452	NHDF-neo	bronchial:	n/a
2	chr4:174089402-174089452	HNPCEpiC	eye:	n/a
3	chr4:174089402-174089452	GM12892	blood:	n/a
4	chr4:174089402-174089452	LNCaP	prostate:	n/a
5	chr4:174089402-174089452	HCM	heart:	n/a
6	chr4:174089402-174089452	HCF	heart:	n/a
7	chr4:174089402-174089452	ECC-1	luminal epithelium:	n/a
8	chr4:174089402-174089452	BJ	skin:	n/a
9	chr4:174089402-174089452	AG10803	skin:	n/a
10	chr4:174089402-174089452	GM12878	blood:	n/a
11	chr4:174089402-174089452	RPTEC	kidney:	n/a
12	chr4:174089402-174089452	HCPEpiC	choroid plexus:	n/a
13	chr4:174089402-174089452	AG04450	lung:	fetal
14	chr4:174089402-174089452	HRCEpiC	kidney:	n/a
15	chr4:174089402-174089452	ProgFib	skin:	n/a
16	chr4:174089402-174089452	HEK293	kidney:	embryo
17	chr4:174089402-174089452	T-47D	breast:	n/a
18	chr4:174089402-174089452	CMK	blood:	n/a
19	chr4:174089402-174089452	PANC-1	pancreas:	n/a
20	chr4:174089402-174089452	SK-N-SH_RA	brain:	n/a
21	chr4:174089402-174089452	Hepatocyte	liver:	n/a
22	chr4:174089402-174089452	AG09319	gingival:	n/a
23	chr4:174089402-174089452	NT2-D1	testis:	n/a
24	chr4:174089402-174089452	AG09309	skin:	n/a
25	chr4:174089402-174089452	SK-N-SH	brain:	n/a
26	chr4:174089402-174089452	A549	lung:	n/a
27	chr4:174089402-174089452	HUVEC	blood vessel:	n/a
28	chr4:174089402-174089452	SK-N-MC	brain:	n/a
29	chr4:174089402-174089452	HepG2	liver:	n/a
30	chr4:174089402-174089452	GM06990	blood:	n/a
31	chr4:174089402-174089452	NHBE	bronchial:	n/a
32	chr4:174089402-174089452	Caco-2	colon:	n/a
33	chr4:174089402-174089452	PFSK-1	brain:	n/a
34	chr4:174089402-174089452	IMR90	lung:	fetal
35	chr4:174089402-174089452	HEEpiC	esophagus:	n/a
36	chr4:174089402-174089452	BE2_C	brain:	n/a
37	chr4:174089402-174089452	PrEC	prostate:	n/a
38	chr4:174089402-174089452	HAEpiC	amniotic membrane:	n/a
39	chr4:174089402-174089452	AoSMC	blood vessel:	n/a
40	chr4:174089402-174089452	SAEC	small airway:	n/a
41	chr4:174089402-174089452	AG04449	skin:	fetal
42	chr4:174089402-174089452	HIPEpiC	eye:	n/a
43	chr4:174089402-174089452	GM12891	blood:	n/a
44	chr4:174089402-174089452	U87	brain:	n/a
45	chr4:174089402-174089452	HRE	kidney:	n/a
46	chr4:174089402-174089452	NH-A	brain:	n/a
47	chr4:174089402-174089452	GM19239	blood:	n/a
48	chr4:174089402-174089452	HL-60	blood:	n/a
49	chr4:174089402-174089452	HCT-116	colon:	n/a
50	chr4:174089402-174089452	H1-hESC	embryonic stem cell:	embryo

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:174087023..174089565-chr4:174159233..174161373,2	MCF-7	breast:
2	chr4:174080088..174082274-chr4:174088293..174089862,2	MCF-7	breast:
3	chr4:174087322..174089631-chr4:174102847..174104512,2	K562	blood:
4	chr4:174088355..174091772-chr4:174254077..174258410,8	K562	blood:
5	chr1:65719996..65720543-chr4:174088718..174089605,2	Hela-S3	cervix:
6	chr4:174088713..174091772-chr4:174254390..174258410,4	K562	blood:
7	chr4:174084331..174086204-chr4:174086936..174089803,3	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HMGB2-3	chr4:174089114-174089818	NONHSAT099224

No data

Variant related genes	Relation type
GALNT7	TF binding region
GALNT7	CpG island
ENSG00000164104	Chromatin interaction
ENSG00000116675	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10011724	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10027708	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10031414	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1006002	0.93[ASN][1000 genomes]
rs1006003	0.93[ASN][1000 genomes]
rs1008052	0.80[ASN][1000 genomes]
rs1054496	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1054497	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11737748	0.89[EUR][1000 genomes]
rs12503939	0.84[EUR][1000 genomes]
rs12639929	0.85[EUR][1000 genomes]
rs12644699	0.87[EUR][1000 genomes]
rs13111572	0.85[EUR][1000 genomes]
rs13125240	0.85[EUR][1000 genomes]
rs13138282	0.89[EUR][1000 genomes]
rs1574314	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17322893	0.89[EUR][1000 genomes]
rs1991727	0.85[EUR][1000 genomes]
rs2078475	0.96[EUR][1000 genomes]
rs2332654	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2332655	0.93[ASN][1000 genomes]
rs2332669	0.85[EUR][1000 genomes]
rs28477433	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28612521	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28709762	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2877748	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3733477	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4377567	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4419455	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4561909	0.99[EUR][1000 genomes]
rs4643788	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66986541	0.82[AMR][1000 genomes]
rs6814857	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6822683	0.84[ASN][1000 genomes]
rs6822875	0.84[ASN][1000 genomes]
rs6826412	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6835098	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6851632	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7657374	0.82[ASN][1000 genomes]
rs7671278	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7672108	0.86[EUR][1000 genomes]
rs9990666	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9997477	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3357841	chr4:174088902-174091750	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	esv3403467	chr4:174088977-174092225	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv1798285	chr4:174089048-174091110	Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv1798967	chr4:174089048-174091110	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	esv1799224	chr4:174089048-174091110	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	esv1804824	chr4:174089048-174091110	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	esv1810173	chr4:174089048-174091110	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	esv1834006	chr4:174089048-174091110	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	esv1841737	chr4:174089048-174091110	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	esv1845734	chr4:174089048-174091110	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	esv1833960	chr4:174089080-174091110	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:174088400-174091400	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr4:174088400-174091600	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr4:174088400-174091600	Active TSS	A549	lung
4	chr4:174088400-174092200	Active TSS	H9 Cell Line	embryonic stem cell
5	chr4:174088600-174089800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr4:174088600-174091400	Active TSS	Rectal Mucosa Donor 31	rectum
7	chr4:174088600-174092000	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr4:174088800-174089600	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr4:174088800-174089600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr4:174088800-174089600	Flanking Active TSS	Fetal Thymus	thymus
11	chr4:174088800-174089600	Flanking Active TSS	Dnd41	blood
12	chr4:174088800-174089600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr4:174088800-174089600	Flanking Active TSS	NHEK	skin
14	chr4:174088800-174089800	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr4:174088800-174089800	Flanking Active TSS	HUVEC	blood vessel
16	chr4:174088800-174090200	Active TSS	Fetal Brain Male	brain
17	chr4:174088800-174091400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr4:174088800-174091400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr4:174088800-174091400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:174088800-174091400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:174088800-174091400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr4:174088800-174091400	Active TSS	Fetal Intestine Small	intestine
23	chr4:174088800-174091400	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr4:174088800-174091400	Active TSS	Rectal Smooth Muscle	rectum
25	chr4:174088800-174091600	Active TSS	H1 Cell Line	embryonic stem cell
26	chr4:174088800-174091600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr4:174088800-174091600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr4:174088800-174091600	Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr4:174088800-174091600	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr4:174088800-174091600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr4:174088800-174091800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:174088800-174091800	Active TSS	Colonic Mucosa	Colon
33	chr4:174088800-174092000	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr4:174088800-174092000	Active TSS	Fetal Kidney	kidney
35	chr4:174088800-174092200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr4:174088800-174092200	Active TSS	HSMMtube	muscle
37	chr4:174088800-174092400	Active TSS	Thymus	Thymus
38	chr4:174089000-174089600	Flanking Active TSS	Primary B cells from peripheral blood	blood
39	chr4:174089000-174089600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
40	chr4:174089000-174089600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr4:174089000-174089600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr4:174089000-174089600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
43	chr4:174089000-174089600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr4:174089000-174089600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
45	chr4:174089000-174089600	Flanking Active TSS	Fetal Heart	heart
46	chr4:174089000-174089600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr4:174089000-174089600	Flanking Active TSS	Stomach Smooth Muscle	stomach
48	chr4:174089000-174089600	Flanking Active TSS	NH-A	brain
49	chr4:174089000-174089800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
50	chr4:174089000-174089800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood

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