Variant report

Variant	rs569727316
Chromosome Location	chr4:174089308-174089309
allele	-/A
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	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	POLR2A	chr4:174088782-174094458	PANC-1	pancreas:	n/a	n/a
13	CUX1	chr4:174089103-174089508	GM12878	blood:	n/a	n/a
14	ELF1	chr4:174089193-174089463	HepG2	liver:	n/a	chr4:174089372-174089383
15	MAZ	chr4:174089005-174091630	K562	blood:	n/a	chr4:174089336-174089346 chr4:174091392-174091402
16	EP300	chr4:174088907-174089476	GM12878	blood:	n/a	chr4:174089301-174089315
17	TBP	chr4:174089052-174090220	K562	blood:	n/a	n/a
18	REST	chr4:174088970-174091683	H1-neurons	neurons:	n/a	chr4:174089347-174089365 chr4:174089565-174089573
19	POLR2A	chr4:174089067-174091578	GM19099	blood:	n/a	n/a
20	POLR2A	chr4:174089018-174091441	K562	blood:	n/a	n/a
21	RELA	chr4:174089051-174091620	GM12891	blood:	n/a	n/a
22	CHD2	chr4:174089048-174090124	K562	blood:	n/a	n/a
23	MAX	chr4:174088996-174089707	MCF-7	breast:	n/a	chr4:174089336-174089346
24	TCF12	chr4:174089013-174090407	ECC-1	luminal epithelium:	n/a	n/a
25	POLR2A	chr4:174088863-174091516	GM18526	blood:	n/a	n/a
26	SIN3AK20	chr4:174089192-174089451	PFSK-1	brain:	n/a	n/a
27	ELF1	chr4:174089042-174091391	GM12878	blood:	n/a	chr4:174091210-174091222 chr4:174091234-174091243 chr4:174089372-174089383
28	POLR2A	chr4:174089275-174091488	ECC-1	luminal epithelium:	n/a	n/a
29	ATF2	chr4:174089161-174090256	GM12878	blood:	n/a	n/a
30	NFIC	chr4:174088972-174089929	GM12878	blood:	n/a	n/a
31	POLR2A	chr4:174088971-174091378	K562	blood:	n/a	n/a
32	MYC	chr4:174089012-174089981	K562	blood:	n/a	chr4:174089336-174089346
33	MAX	chr4:174088927-174091694	Hela-S3	cervix:	n/a	chr4:174089336-174089346 chr4:174091392-174091402
34	ZMIZ1	chr4:174089132-174090119	K562	blood:	n/a	n/a
35	MYC	chr4:174089026-174089960	H1-hESC	embryonic stem cell:	n/a	chr4:174089336-174089346
36	EP300	chr4:174089059-174090191	ECC-1	luminal epithelium:	n/a	chr4:174089301-174089315 chr4:174089470-174089479
37	E2F6	chr4:174089305-174089487	K562	blood:	n/a	chr4:174089473-174089482
38	TEAD4	chr4:174088863-174090008	K562	blood:	n/a	n/a
39	SMC3	chr4:174088897-174089823	GM12878	blood:	n/a	n/a
40	MYC	chr4:174088892-174090213	K562	blood:	n/a	chr4:174089336-174089346
41	SPI1	chr4:174089196-174089563	GM12891	blood:	n/a	n/a
42	TCF12	chr4:174088969-174089979	A549	lung:	n/a	n/a
43	POLR2A	chr4:174089029-174091518	GM15510	blood:	n/a	n/a
44	POLR2A	chr4:174089127-174090108	SK-N-MC	brain:	n/a	n/a
45	STAT5A	chr4:174089188-174090167	GM12878	blood:	n/a	n/a
46	MYC	chr4:174089279-174089536	MCF-7	breast:	n/a	chr4:174089336-174089346
47	MYC	chr4:174089074-174089545	K562	blood:	n/a	chr4:174089336-174089346
48	POLR2A	chr4:174088949-174089879	GM12891	blood:	n/a	n/a
49	POLR2A	chr4:174089174-174090166	SK-N-SH	brain:	n/a	n/a
50	ELF1	chr4:174089140-174091501	GM12878	blood:	n/a	chr4:174091210-174091222 chr4:174091234-174091243 chr4:174089372-174089383 chr4:174091389-174091401

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:

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

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

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 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
12	esv1025813	chr4:174089307-174089308	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

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	chr4:174088600-174089400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr4:174088600-174089800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr4:174088600-174091400	Active TSS	Rectal Mucosa Donor 31	rectum
8	chr4:174088600-174092000	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr4:174088800-174089400	Flanking Active TSS	Primary T cells from cord blood	blood
10	chr4:174088800-174089400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr4:174088800-174089400	Flanking Active TSS	Duodenum Mucosa	Duodenum
12	chr4:174088800-174089600	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr4:174088800-174089600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr4:174088800-174089600	Flanking Active TSS	Fetal Thymus	thymus
15	chr4:174088800-174089600	Flanking Active TSS	Dnd41	blood
16	chr4:174088800-174089600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr4:174088800-174089600	Flanking Active TSS	NHEK	skin
18	chr4:174088800-174089800	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr4:174088800-174089800	Flanking Active TSS	HUVEC	blood vessel
20	chr4:174088800-174090200	Active TSS	Fetal Brain Male	brain
21	chr4:174088800-174091400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr4:174088800-174091400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr4:174088800-174091400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr4:174088800-174091400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:174088800-174091400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr4:174088800-174091400	Active TSS	Fetal Intestine Small	intestine
27	chr4:174088800-174091400	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr4:174088800-174091400	Active TSS	Rectal Smooth Muscle	rectum
29	chr4:174088800-174091600	Active TSS	H1 Cell Line	embryonic stem cell
30	chr4:174088800-174091600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr4:174088800-174091600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr4:174088800-174091600	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr4:174088800-174091600	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr4:174088800-174091600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr4:174088800-174091800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr4:174088800-174091800	Active TSS	Colonic Mucosa	Colon
37	chr4:174088800-174092000	Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr4:174088800-174092000	Active TSS	Fetal Kidney	kidney
39	chr4:174088800-174092200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr4:174088800-174092200	Active TSS	HSMMtube	muscle
41	chr4:174088800-174092400	Active TSS	Thymus	Thymus
42	chr4:174089000-174089400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
43	chr4:174089000-174089400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr4:174089000-174089400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr4:174089000-174089400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr4:174089000-174089400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr4:174089000-174089400	Flanking Bivalent TSS/Enh	Liver	Liver
48	chr4:174089000-174089400	Flanking Active TSS	Brain Angular Gyrus	brain
49	chr4:174089000-174089400	Active TSS	Brain Germinal Matrix	brain
50	chr4:174089000-174089400	Flanking Active TSS	Brain Substantia Nigra	brain

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