Variant report

Variant	rs549057707
Chromosome Location	chr5:14664991-14664992
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	TCF12	chr5:14664235-14665022	ECC-1	luminal epithelium:	n/a	chr5:14664751-14664758
2	GABPA	chr5:14664282-14665046	SK-N-SH	brain:	n/a	chr5:14664715-14664724 chr5:14664717-14664726 chr5:14664715-14664726 chr5:14664645-14664659 chr5:14664715-14664729 chr5:14664712-14664726
3	POLR2A	chr5:14664358-14665049	HepG2	liver:	n/a	n/a
4	ELF1	chr5:14663979-14665027	MCF-7	breast:	n/a	chr5:14664803-14664812 chr5:14664527-14664538
5	HDAC2	chr5:14664267-14665060	HepG2	liver:	n/a	n/a
6	NR2C2	chr5:14664383-14665277	Hela-S3	cervix:	n/a	chr5:14664765-14664780 chr5:14664769-14664778
7	POLR2A	chr5:14664417-14665066	HCT-116	colon:	n/a	n/a
8	HEY1	chr5:14664342-14665036	HepG2	liver:	n/a	n/a
9	SMARCC1	chr5:14663874-14665749	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr5:14663716-14665614	GM19099	blood:	n/a	n/a
11	ZBTB7A	chr5:14664527-14665015	K562	blood:	n/a	n/a
12	YY1	chr5:14664208-14665061	GM12892	blood:	n/a	n/a
13	MAX	chr5:14663814-14665184	HepG2	liver:	n/a	n/a
14	MYC	chr5:14663850-14665135	K562	blood:	n/a	n/a
15	SPI1	chr5:14664215-14664993	HL-60	blood:	n/a	chr5:14664526-14664539
16	POU2F2	chr5:14663861-14665039	GM12878	blood:	n/a	n/a
17	MYC	chr5:14664345-14665021	MCF10A-Er-Src	breast:	n/a	n/a
18	SP1	chr5:14664193-14665012	A549	lung:	n/a	chr5:14664782-14664791
19	CREB1	chr5:14664162-14665117	HepG2	liver:	n/a	n/a
20	GABPA	chr5:14664193-14665024	MCF-7	breast:	n/a	chr5:14664715-14664724 chr5:14664717-14664726 chr5:14664715-14664726 chr5:14664645-14664659 chr5:14664715-14664729 chr5:14664712-14664726
21	CREB1	chr5:14664199-14664994	H1-hESC	embryonic stem cell:	n/a	n/a
22	E2F6	chr5:14664016-14665488	Hela-S3	cervix:	n/a	chr5:14664571-14664582 chr5:14664572-14664584 chr5:14664573-14664580 chr5:14664716-14664725 chr5:14664682-14664692 chr5:14664573-14664580 chr5:14664573-14664580 chr5:14665460-14665470
23	TEAD4	chr5:14663890-14665029	K562	blood:	n/a	n/a
24	MXI1	chr5:14664245-14665000	Hela-S3	cervix:	n/a	n/a
25	CREB1	chr5:14664222-14665165	HepG2	liver:	n/a	n/a
26	POLR2A	chr5:14664200-14665246	ProgFib	skin:	n/a	n/a
27	POLR2A	chr5:14663959-14665646	GM12878	blood:	n/a	n/a
28	POLR2A	chr5:14664271-14665127	A549	lung:	n/a	n/a
29	ELF1	chr5:14664425-14665031	K562	blood:	n/a	chr5:14664803-14664812 chr5:14664527-14664538
30	E2F6	chr5:14663881-14665098	A549	lung:	n/a	chr5:14664571-14664582 chr5:14664572-14664584 chr5:14664573-14664580 chr5:14664716-14664725 chr5:14664682-14664692 chr5:14664573-14664580 chr5:14664573-14664580
31	POLR2A	chr5:14663914-14665132	GM12878	blood:	n/a	n/a
32	EGR1	chr5:14664977-14665208	GM12878	blood:	n/a	chr5:14665113-14665127
33	POLR2A	chr5:14663951-14665640	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr5:14664262-14665061	HL-60	blood:	n/a	n/a
35	POLR2A	chr5:14664228-14665084	ECC-1	luminal epithelium:	n/a	n/a
36	POLR2A	chr5:14664211-14666290	MCF10A-Er-Src	breast:	n/a	n/a
37	EP300	chr5:14664177-14664994	K562	blood:	n/a	chr5:14664527-14664536 chr5:14664657-14664673
38	POLR2A	chr5:14664318-14665167	A549	lung:	n/a	n/a
39	ZMIZ1	chr5:14664447-14665023	K562	blood:	n/a	n/a
40	BACH1	chr5:14664379-14665689	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr5:14663644-14665544	GM12892	blood:	n/a	n/a
42	TAF1	chr5:14664230-14665113	HepG2	liver:	n/a	n/a
43	ZBTB7A	chr5:14664503-14665276	K562	blood:	n/a	n/a
44	RELA	chr5:14663998-14665000	GM19193	blood:	n/a	chr5:14664433-14664442 chr5:14664433-14664442
45	E2F6	chr5:14663861-14665118	H1-hESC	embryonic stem cell:	n/a	chr5:14664571-14664582 chr5:14664572-14664584 chr5:14664573-14664580 chr5:14664716-14664725 chr5:14664682-14664692 chr5:14664573-14664580 chr5:14664573-14664580
46	FOXP2	chr5:14664275-14665051	PFSK-1	brain:	n/a	n/a
47	TCF12	chr5:14663789-14665444	A549	lung:	n/a	chr5:14664751-14664758
48	MYBL2	chr5:14664309-14664992	HepG2	liver:	n/a	n/a
49	HCFC1	chr5:14663991-14665346	K562	blood:	n/a	n/a
50	RCOR1	chr5:14664216-14665006	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:14143682..14146659-chr5:14664431..14666395,2	MCF-7	breast:
2	chr5:14611853..14613930-chr5:14664860..14666930,2	K562	blood:
3	chr17:1620010..1621019-chr5:14664271..14665202,3	Hela-S3	cervix:
4	chr17:62222968..62223765-chr5:14664311..14665257,2	Hela-S3	cervix:
5	chr5:14497930..14500445-chr5:14662848..14665215,2	MCF-7	breast:
6	chr5:14663431..14670152-chr5:14672054..14680588,17	K562	blood:
7	chr5:14663911..14666053-chr5:14679468..14682192,2	MCF-7	breast:
8	chr12:121837283..121837955-chr5:14664313..14665299,2	Hela-S3	cervix:
9	chr10:103824761..103825626-chr5:14664698..14665242,2	Hela-S3	cervix:
10	chr19:9938591..9939096-chr5:14664436..14665121,2	Hela-S3	cervix:
11	chr1:147806219..147807143-chr5:14664370..14664996,2	Hela-S3	cervix:
12	chr2:75937399..75938318-chr5:14664189..14665128,2	Hela-S3	cervix:
13	chr2:20101550..20102401-chr5:14664511..14665186,2	Hela-S3	cervix:
14	chr5:14664623..14665342-chr5:89705556..89706261,2	HCT-116	colon:
15	chr12:125398725..125399588-chr5:14664525..14665354,2	Hela-S3	cervix:
16	chr1:176175719..176176397-chr5:14664793..14665438,2	Hela-S3	cervix:
17	chr1:16482022..16482600-chr5:14664854..14665513,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000261360	TF binding region
ENSG00000142627	Chromatin interaction
ENSG00000183891	Chromatin interaction
ENSG00000143207	Chromatin interaction
ENSG00000038382	Chromatin interaction
ENSG00000199753	Chromatin interaction
ENSG00000154124	Chromatin interaction
ENSG00000153140	Chromatin interaction
ENSG00000150991	Chromatin interaction
ENSG00000089053	Chromatin interaction
ENSG00000198258	Chromatin interaction
ENSG00000271991	Chromatin interaction
ENSG00000266402	Chromatin interaction
ENSG00000170633	Chromatin interaction
ENSG00000202408	Chromatin interaction
ENSG00000255647	Chromatin interaction
ENSG00000166189	Chromatin interaction
ENSG00000186594	Chromatin interaction
ENSG00000005436	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv830211	chr5:14474675-14675776	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1032951	chr5:14529579-14667342	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	esv17082	chr5:14664452-14665082	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv597255	chr5:14664479-14665007	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	esv1803617	chr5:14664479-14667143	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	esv1838262	chr5:14664479-14667143	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
9	nsv597256	chr5:14664533-14665615	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 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	chr5:14663400-14665600	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr5:14663400-14665800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:14663400-14665800	Active TSS	A549	lung
4	chr5:14663600-14665200	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr5:14663600-14665400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:14663600-14665600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:14663600-14666000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:14663600-14666000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:14663600-14666000	Active TSS	NHLF	lung
10	chr5:14663600-14666200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr5:14663600-14666200	Active TSS	GM12878-XiMat	blood
12	chr5:14663800-14665200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
13	chr5:14663800-14665400	Active TSS	Fetal Lung	lung
14	chr5:14663800-14665600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr5:14663800-14665600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:14663800-14665600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
17	chr5:14663800-14665600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:14663800-14665800	Active TSS	H9 Cell Line	embryonic stem cell
19	chr5:14663800-14665800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr5:14663800-14665800	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr5:14663800-14665800	Active TSS	Colon Smooth Muscle	Colon
22	chr5:14663800-14665800	Active TSS	Esophagus	oesophagus
23	chr5:14663800-14665800	Active TSS	Sigmoid Colon	Sigmoid Colon
24	chr5:14663800-14665800	Active TSS	Small Intestine	intestine
25	chr5:14663800-14665800	Active TSS	Stomach Mucosa	stomach
26	chr5:14663800-14665800	Active TSS	HSMMtube	muscle
27	chr5:14663800-14666000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr5:14663800-14666000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr5:14663800-14666000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr5:14663800-14666000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr5:14663800-14666000	Active TSS	Colonic Mucosa	Colon
32	chr5:14663800-14666000	Active TSS	Left Ventricle	heart
33	chr5:14663800-14666000	Active TSS	Psoas Muscle	Psoas
34	chr5:14663800-14666000	Active TSS	NHDF-Ad	bronchial
35	chr5:14663800-14666200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr5:14663800-14666200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr5:14663800-14666200	Active TSS	Aorta	Aorta
38	chr5:14663800-14666200	Active TSS	Lung	lung
39	chr5:14663800-14666200	Active TSS	Ovary	ovary
40	chr5:14663800-14666200	Active TSS	HMEC	breast
41	chr5:14663800-14666600	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr5:14664000-14665000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
43	chr5:14664000-14665400	Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr5:14664000-14665400	Active TSS	Brain Hippocampus Middle	brain
45	chr5:14664000-14665400	Active TSS	Duodenum Mucosa	Duodenum
46	chr5:14664000-14665400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
47	chr5:14664000-14665400	Active TSS	HSMM	muscle
48	chr5:14664000-14665600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr5:14664000-14665600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr5:14664000-14665600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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