Variant report

Variant	rs545617673
Chromosome Location	chr4:174089769-174089770
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:274)
CpG islands
(count:122)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:274 , 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	POLR2A	chr4:174089003-174090139	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr4:174088965-174091465	HL-60	blood:	n/a	n/a
6	YY1	chr4:174089499-174089913	GM12892	blood:	n/a	n/a
7	POLR2A	chr4:174089263-174090214	Hela-S3	cervix:	n/a	n/a
8	MAZ	chr4:174088930-174091911	IMR90	lung:	n/a	chr4:174089336-174089346 chr4:174091392-174091402
9	POLR2A	chr4:174088782-174094458	PANC-1	pancreas:	n/a	n/a
10	TAF1	chr4:174089549-174090149	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAZ	chr4:174089005-174091630	K562	blood:	n/a	chr4:174089336-174089346 chr4:174091392-174091402
12	EGR1	chr4:174089769-174090057	GM12878	blood:	n/a	chr4:174089876-174089890 chr4:174089892-174089906 chr4:174089912-174089926
13	TBP	chr4:174089052-174090220	K562	blood:	n/a	n/a
14	REST	chr4:174088970-174091683	H1-neurons	neurons:	n/a	chr4:174089347-174089365 chr4:174089565-174089573
15	CTCF	chr4:174089680-174089830	GM06990	blood:	n/a	n/a
16	POLR2A	chr4:174089067-174091578	GM19099	blood:	n/a	n/a
17	POLR2A	chr4:174089018-174091441	K562	blood:	n/a	n/a
18	RELA	chr4:174089051-174091620	GM12891	blood:	n/a	n/a
19	JUND	chr4:174089651-174089846	H1-hESC	embryonic stem cell:	n/a	n/a
20	CHD2	chr4:174089048-174090124	K562	blood:	n/a	n/a
21	TCF12	chr4:174089013-174090407	ECC-1	luminal epithelium:	n/a	n/a
22	POLR2A	chr4:174088863-174091516	GM18526	blood:	n/a	n/a
23	ELK4	chr4:174089334-174089838	Hela-S3	cervix:	n/a	n/a
24	ELF1	chr4:174089042-174091391	GM12878	blood:	n/a	chr4:174091210-174091222 chr4:174091234-174091243 chr4:174089372-174089383
25	POLR2A	chr4:174089275-174091488	ECC-1	luminal epithelium:	n/a	n/a
26	ATF2	chr4:174089161-174090256	GM12878	blood:	n/a	n/a
27	NFIC	chr4:174088972-174089929	GM12878	blood:	n/a	n/a
28	POLR2A	chr4:174088971-174091378	K562	blood:	n/a	n/a
29	MYC	chr4:174089012-174089981	K562	blood:	n/a	chr4:174089336-174089346
30	MAX	chr4:174088927-174091694	Hela-S3	cervix:	n/a	chr4:174089336-174089346 chr4:174091392-174091402
31	RAD21	chr4:174089314-174090117	H1-hESC	embryonic stem cell:	n/a	chr4:174089492-174089504
32	ZMIZ1	chr4:174089132-174090119	K562	blood:	n/a	n/a
33	EBF1	chr4:174089567-174089878	GM12878	blood:	n/a	n/a
34	MYC	chr4:174089026-174089960	H1-hESC	embryonic stem cell:	n/a	chr4:174089336-174089346
35	CTCF	chr4:174089660-174089810	HBMEC	blood vessel:	n/a	n/a
36	EP300	chr4:174089059-174090191	ECC-1	luminal epithelium:	n/a	chr4:174089301-174089315 chr4:174089470-174089479
37	TEAD4	chr4:174088863-174090008	K562	blood:	n/a	n/a
38	SMC3	chr4:174088897-174089823	GM12878	blood:	n/a	n/a
39	MYC	chr4:174088892-174090213	K562	blood:	n/a	chr4:174089336-174089346
40	CTCF	chr4:174089620-174089770	HCPEpiC	choroid plexus:	n/a	n/a
41	TCF12	chr4:174088969-174089979	A549	lung:	n/a	n/a
42	POLR2A	chr4:174089029-174091518	GM15510	blood:	n/a	n/a
43	POLR2A	chr4:174089127-174090108	SK-N-MC	brain:	n/a	n/a
44	ELK1	chr4:174089531-174089779	K562	blood:	n/a	n/a
45	STAT5A	chr4:174089188-174090167	GM12878	blood:	n/a	n/a
46	POLR2A	chr4:174089315-174091391	A549	lung:	n/a	n/a
47	POLR2A	chr4:174088949-174089879	GM12891	blood:	n/a	n/a
48	POLR2A	chr4:174089174-174090166	SK-N-SH	brain:	n/a	n/a
49	ELF1	chr4:174089140-174091501	GM12878	blood:	n/a	chr4:174091210-174091222 chr4:174091234-174091243 chr4:174089372-174089383 chr4:174091389-174091401
50	POLR2A	chr4:174089252-174091448	GM12878	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:174089755-174089805	NB4	blood:	n/a
2	chr4:174089755-174089805	AG04449	skin:	fetal
3	chr4:174089755-174089805	HRE	kidney:	n/a
4	chr4:174089755-174089805	BJ	skin:	n/a
5	chr4:174089755-174089805	SK-N-MC	brain:	n/a
6	chr4:174089755-174089805	AG09309	skin:	n/a
7	chr4:174089755-174089805	SKMC	muscle:	n/a
8	chr4:174089755-174089805	HIPEpiC	eye:	n/a
9	chr4:174089748-174089798	HEEpiC	esophagus:	n/a
10	chr4:174089748-174089798	PrEC	prostate:	n/a
11	chr4:174089748-174089798	H1-hESC	embryonic stem cell:	embryo
12	chr4:174089755-174089805	GM12892	blood:	n/a
13	chr4:174089755-174089805	Hepatocyte	liver:	n/a
14	chr4:174089755-174089805	AG04450	lung:	fetal
15	chr4:174089748-174089798	AG04450	lung:	fetal
16	chr4:174089755-174089805	LNCaP	prostate:	n/a
17	chr4:174089755-174089805	IMR90	lung:	fetal
18	chr4:174089755-174089805	Caco-2	colon:	n/a
19	chr4:174089755-174089805	RPTEC	kidney:	n/a
20	chr4:174089755-174089805	T-47D	breast:	n/a
21	chr4:174089748-174089798	HRPEpiC	eye:	n/a
22	chr4:174089748-174089798	HMEC	breast:	n/a
23	chr4:174089755-174089805	AG10803	skin:	n/a
24	chr4:174089748-174089798	ovcar-3	ovarian:	n/a
25	chr4:174089748-174089798	HPAEpiC	pulmonary alveolar:	n/a
26	chr4:174089748-174089798	AG09309	skin:	n/a
27	chr4:174089748-174089798	U87	brain:	n/a
28	chr4:174089755-174089805	HRCEpiC	kidney:	n/a
29	chr4:174089748-174089798	GM06990	blood:	n/a
30	chr4:174089755-174089805	HepG2	liver:	n/a
31	chr4:174089748-174089798	SK-N-MC	brain:	n/a
32	chr4:174089748-174089798	HUVEC	blood vessel:	n/a
33	chr4:174089748-174089798	HCF	heart:	n/a
34	chr4:174089755-174089805	NHBE	bronchial:	n/a
35	chr4:174089748-174089798	GM12892	blood:	n/a
36	chr4:174089755-174089805	PFSK-1	brain:	n/a
37	chr4:174089748-174089798	SK-N-SH_RA	brain:	n/a
38	chr4:174089748-174089798	Hela-S3	cervix:	n/a
39	chr4:174089748-174089798	HCPEpiC	choroid plexus:	n/a
40	chr4:174089748-174089798	GM19239	blood:	n/a
41	chr4:174089748-174089798	RPTEC	kidney:	n/a
42	chr4:174089755-174089805	PANC-1	pancreas:	n/a
43	chr4:174089748-174089798	NT2-D1	testis:	n/a
44	chr4:174089755-174089805	HRPEpiC	eye:	n/a
45	chr4:174089755-174089805	NT2-D1	testis:	n/a
46	chr4:174089748-174089798	AG09319	gingival:	n/a
47	chr4:174089748-174089798	HNPCEpiC	eye:	n/a
48	chr4:174089755-174089805	HCF	heart:	n/a
49	chr4:174089755-174089805	MCF-7	breast:	n/a
50	chr4:174089755-174089805	NH-A	brain:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:174089447..174090027-chr7:32534803..32535652,2	Hela-S3	cervix:
2	chr4:174080088..174082274-chr4:174088293..174089862,2	MCF-7	breast:
3	chr4:174088355..174091772-chr4:174254077..174258410,8	K562	blood:
4	chr4:174088713..174091772-chr4:174254390..174258410,4	K562	blood:
5	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
ENSG00000105778	Chromatin interaction
ENSG00000106355	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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	chr4:174088800-174089800	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr4:174088800-174089800	Flanking Active TSS	HUVEC	blood vessel
10	chr4:174088800-174090200	Active TSS	Fetal Brain Male	brain
11	chr4:174088800-174091400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:174088800-174091400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:174088800-174091400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:174088800-174091400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:174088800-174091400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:174088800-174091400	Active TSS	Fetal Intestine Small	intestine
17	chr4:174088800-174091400	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr4:174088800-174091400	Active TSS	Rectal Smooth Muscle	rectum
19	chr4:174088800-174091600	Active TSS	H1 Cell Line	embryonic stem cell
20	chr4:174088800-174091600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr4:174088800-174091600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:174088800-174091600	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr4:174088800-174091600	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr4:174088800-174091600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr4:174088800-174091800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:174088800-174091800	Active TSS	Colonic Mucosa	Colon
27	chr4:174088800-174092000	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr4:174088800-174092000	Active TSS	Fetal Kidney	kidney
29	chr4:174088800-174092200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr4:174088800-174092200	Active TSS	HSMMtube	muscle
31	chr4:174088800-174092400	Active TSS	Thymus	Thymus
32	chr4:174089000-174089800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
33	chr4:174089000-174089800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr4:174089000-174089800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
35	chr4:174089000-174089800	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr4:174089000-174089800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
37	chr4:174089000-174089800	Active TSS	Stomach Mucosa	stomach
38	chr4:174089000-174090000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr4:174089000-174090000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr4:174089000-174090000	Active TSS	Right Atrium	heart
41	chr4:174089000-174091200	Active TSS	Fetal Brain Female	brain
42	chr4:174089000-174091400	Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr4:174089000-174091400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr4:174089000-174091400	Active TSS	Brain Hippocampus Middle	brain
45	chr4:174089000-174091400	Active TSS	Colon Smooth Muscle	Colon
46	chr4:174089000-174091400	Active TSS	Fetal Intestine Large	intestine
47	chr4:174089000-174091600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr4:174089000-174091600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr4:174089000-174091600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr4:174089000-174091600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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