Variant report

Variant	rs538608790
Chromosome Location	chr14:69445453-69445454
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	RAD21	chr14:69444142-69445598	SK-N-SH_RA	brain:	n/a	chr14:69444648-69444658
2	PML	chr14:69445226-69445628	MCF-7	breast:	n/a	n/a
3	POLR2A	chr14:69444534-69446528	A549	lung:	n/a	n/a
4	TAF1	chr14:69444765-69445625	H1-neurons	neurons:	n/a	n/a
5	CREB1	chr14:69444340-69446611	HepG2	liver:	n/a	n/a
6	POLR2A	chr14:69445245-69445562	HepG2	liver:	n/a	n/a
7	POLR2A	chr14:69443844-69447350	HUVEC	blood vessel:	n/a	n/a
8	THAP1	chr14:69445355-69445590	K562	blood:	n/a	n/a
9	POLR2A	chr14:69444452-69445530	SK-N-MC	brain:	n/a	n/a
10	MAX	chr14:69444601-69445528	K562	blood:	n/a	chr14:69445035-69445045
11	POLR2A	chr14:69445296-69445600	K562	blood:	n/a	n/a
12	POLR2A	chr14:69444876-69445606	K562	blood:	n/a	n/a
13	POLR2A	chr14:69444670-69445468	K562	blood:	n/a	n/a
14	TCF12	chr14:69444721-69445679	ECC-1	luminal epithelium:	n/a	chr14:69445102-69445112 chr14:69445172-69445182
15	ELF1	chr14:69444415-69446561	MCF-7	breast:	n/a	chr14:69446050-69446062 chr14:69446060-69446072 chr14:69445127-69445139 chr14:69445490-69445499
16	POLR2A	chr14:69444423-69446910	K562	blood:	n/a	n/a
17	MXI1	chr14:69444650-69445548	HepG2	liver:	n/a	n/a
18	POLR2A	chr14:69443926-69446789	ProgFib	skin:	n/a	n/a
19	POLR2A	chr14:69444061-69446941	Hela-S3	cervix:	n/a	n/a
20	CHD2	chr14:69444265-69447147	Hela-S3	cervix:	n/a	chr14:69446695-69446705
21	CTCF	chr14:69445025-69445548	K562	blood:	n/a	n/a
22	POLR2A	chr14:69443144-69445570	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr14:69441718-69446518	HepG2	liver:	n/a	n/a
24	POLR2A	chr14:69444536-69445580	HL-60	blood:	n/a	n/a
25	POLR2A	chr14:69444519-69446541	K562	blood:	n/a	n/a
26	MXI1	chr14:69441660-69447416	IMR90	lung:	n/a	n/a
27	POLR2A	chr14:69444406-69446941	MCF-7	breast:	n/a	n/a
28	MAX	chr14:69443875-69446589	MCF-7	breast:	n/a	chr14:69446258-69446267 chr14:69446222-69446232 chr14:69444518-69444528 chr14:69445035-69445045 chr14:69445545-69445555 chr14:69446056-69446066 chr14:69445647-69445657 chr14:69446420-69446430
29	MAZ	chr14:69444590-69446975	K562	blood:	n/a	chr14:69446258-69446267 chr14:69446222-69446232 chr14:69445035-69445045 chr14:69445545-69445555 chr14:69446056-69446066 chr14:69445647-69445657 chr14:69446420-69446430
30	CHD1	chr14:69441180-69450261	IMR90	lung:	n/a	chr14:69446695-69446705
31	POLR2A	chr14:69444490-69446488	MCF-7	breast:	n/a	n/a
32	ELF1	chr14:69445253-69445606	K562	blood:	n/a	chr14:69445490-69445499
33	TBP	chr14:69444213-69446438	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr14:69445175-69445467	GM12878	blood:	n/a	n/a
35	EGR1	chr14:69445345-69445597	K562	blood:	n/a	chr14:69445539-69445552 chr14:69445545-69445558 chr14:69445544-69445559 chr14:69445543-69445553 chr14:69445539-69445552 chr14:69445545-69445558 chr14:69445546-69445556 chr14:69445539-69445552 chr14:69445442-69445452 chr14:69445540-69445549 chr14:69445538-69445552 chr14:69445538-69445553 chr14:69445539-69445552
36	SIN3AK20	chr14:69444472-69446557	MCF-7	breast:	n/a	n/a
37	MYC	chr14:69444046-69446434	NB4	blood:	n/a	chr14:69446258-69446267 chr14:69446222-69446232 chr14:69444518-69444528 chr14:69445035-69445045 chr14:69445545-69445555 chr14:69446056-69446066 chr14:69445647-69445657 chr14:69446420-69446430
38	HEY1	chr14:69445188-69445588	K562	blood:	n/a	chr14:69445443-69445458 chr14:69445537-69445552
39	POLR2A	chr14:69444728-69446500	K562	blood:	n/a	n/a
40	POLR2A	chr14:69444364-69446450	HCT-116	colon:	n/a	n/a
41	SIN3A	chr14:69444455-69447300	H1-hESC	embryonic stem cell:	n/a	chr14:69444765-69444778 chr14:69444777-69444790 chr14:69445945-69445958 chr14:69445831-69445844
42	E2F1	chr14:69445243-69446825	Hela-S3	cervix:	n/a	chr14:69446056-69446065 chr14:69445654-69445664 chr14:69445647-69445656 chr14:69446372-69446384 chr14:69446689-69446701 chr14:69446062-69446071 chr14:69445651-69445661 chr14:69445544-69445553 chr14:69445954-69445964
43	POLR2A	chr14:69445124-69446496	HEK293	kidney:	n/a	n/a
44	POLR2A	chr14:69444408-69445598	PFSK-1	brain:	n/a	n/a
45	MAX	chr14:69443999-69446446	NB4	blood:	n/a	chr14:69446258-69446267 chr14:69446222-69446232 chr14:69444518-69444528 chr14:69445035-69445045 chr14:69445545-69445555 chr14:69446056-69446066 chr14:69445647-69445657 chr14:69446420-69446430
46	CTCF	chr14:69445400-69445550	GM12865	blood:	n/a	n/a
47	MAX	chr14:69445141-69446479	H1-hESC	embryonic stem cell:	n/a	chr14:69446258-69446267 chr14:69446222-69446232 chr14:69445545-69445555 chr14:69446056-69446066 chr14:69445647-69445657 chr14:69446420-69446430
48	EP300	chr14:69444197-69447183	ECC-1	luminal epithelium:	n/a	chr14:69445444-69445460 chr14:69444809-69444825 chr14:69446463-69446477 chr14:69445133-69445142 chr14:69445465-69445481 chr14:69445645-69445661 chr14:69446770-69446786
49	EGR1	chr14:69444373-69446564	MCF-7	breast:	n/a	chr14:69445539-69445552 chr14:69445648-69445661 chr14:69445651-69445661 chr14:69445545-69445558 chr14:69445544-69445559 chr14:69445035-69445048 chr14:69445543-69445553 chr14:69446057-69446070 chr14:69446225-69446236 chr14:69445539-69445552 chr14:69445545-69445558 chr14:69445546-69445556 chr14:69446062-69446072 chr14:69446223-69446238 chr14:69445539-69445552 chr14:69446057-69446070 chr14:69446060-69446070 chr14:69445442-69445452 chr14:69444519-69444529 chr14:69446224-69446237 chr14:69446060-69446069 chr14:69446421-69446434 chr14:69446055-69446065 chr14:69446056-69446071 chr14:69446057-69446071 chr14:69445540-69445549 chr14:69445538-69445552 chr14:69445648-69445661 chr14:69446219-69446228 chr14:69445538-69445553 chr14:69445648-69445661 chr14:69446057-69446070 chr14:69445030-69445052 chr14:69446514-69446527 chr14:69445035-69445045 chr14:69444518-69444528 chr14:69445539-69445552 chr14:69445651-69445660 chr14:69446057-69446070
50	POLR2A	chr14:69443295-69445595	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:69445082..69446680-chr19:821137..822637,2	MCF-7	breast:
2	chr14:69445129..69445960-chr9:33025065..33025667,2	NB4	blood:
3	chr14:69403117..69416483-chr14:69441657..69449888,50	MCF-7	breast:
4	chr14:69444907..69445454-chr5:54529568..54530240,2	Hela-S3	cervix:
5	chr11:82996354..82997171-chr14:69444714..69445547,2	Hela-S3	cervix:
6	chr12:105500906..105501711-chr14:69445305..69446007,2	HCT-116	colon:
7	chr14:69445047..69445802-chr2:71295391..71296251,2	Hela-S3	cervix:
8	chr14:69385888..69393669-chr14:69442988..69447287,14	MCF-7	breast:
9	chr14:69402982..69422523-chr14:69436263..69448017,46	MCF-7	breast:
10	chr14:69444624..69445575-chr20:32890474..32891378,2	Hela-S3	cervix:
11	chr14:69385676..69391979-chr14:69443116..69446617,6	MCF-7	breast:
12	chr14:69445219..69447444-chr3:183352751..183354827,2	MCF-7	breast:

Variant related genes	Relation type
ACTN1	TF binding region
ACTN1-AS1	TF binding region
ENSG00000137074	Chromatin interaction
ENSG00000258531	Chromatin interaction
ENSG00000137500	Chromatin interaction
ENSG00000257999	Chromatin interaction
ENSG00000124357	Chromatin interaction
ENSG00000086061	Chromatin interaction
ENSG00000251307	Chromatin interaction
ENSG00000101444	Chromatin interaction
ENSG00000129951	Chromatin interaction
ENSG00000114796	Chromatin interaction
ENSG00000072110	Chromatin interaction
ENSG00000136051	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832823	chr14:69388853-69567638	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv3449858	chr14:69443549-69447697	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	esv3409047	chr14:69444224-69447072	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69443200-69447000	Active TSS	Aorta	Aorta
2	chr14:69443600-69446800	Active TSS	Esophagus	oesophagus
3	chr14:69443600-69447200	Active TSS	H9 Cell Line	embryonic stem cell
4	chr14:69443800-69445600	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr14:69443800-69446800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr14:69443800-69446800	Active TSS	Right Atrium	heart
7	chr14:69443800-69446800	Active TSS	HSMM	muscle
8	chr14:69443800-69447200	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr14:69443800-69447400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr14:69444000-69446800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr14:69444000-69446800	Active TSS	Brain Angular Gyrus	brain
12	chr14:69444000-69446800	Active TSS	Brain Substantia Nigra	brain
13	chr14:69444000-69447200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr14:69444000-69447200	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr14:69444200-69446600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr14:69444200-69446800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr14:69444200-69446800	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr14:69444200-69446800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr14:69444200-69446800	Active TSS	Brain Anterior Caudate	brain
20	chr14:69444200-69446800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr14:69444200-69446800	Active TSS	Colon Smooth Muscle	Colon
22	chr14:69444200-69446800	Active TSS	Duodenum Mucosa	Duodenum
23	chr14:69444200-69446800	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr14:69444200-69446800	Active TSS	Fetal Intestine Large	intestine
25	chr14:69444200-69446800	Active TSS	Left Ventricle	heart
26	chr14:69444200-69446800	Active TSS	Pancreas	Pancrea
27	chr14:69444200-69446800	Active TSS	Placenta Amnion	Placenta Amnion
28	chr14:69444200-69446800	Active TSS	Psoas Muscle	Psoas
29	chr14:69444200-69446800	Active TSS	Rectal Smooth Muscle	rectum
30	chr14:69444200-69446800	Active TSS	Right Ventricle	heart
31	chr14:69444200-69446800	Active TSS	NHEK	skin
32	chr14:69444200-69446800	Active TSS	NHLF	lung
33	chr14:69444200-69447000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr14:69444200-69447000	Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr14:69444200-69447000	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr14:69444200-69447000	Active TSS	Fetal Kidney	kidney
37	chr14:69444200-69447000	Active TSS	Ovary	ovary
38	chr14:69444200-69447000	Active TSS	Sigmoid Colon	Sigmoid Colon
39	chr14:69444200-69447000	Active TSS	HSMMtube	muscle
40	chr14:69444200-69447200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr14:69444200-69447200	Active TSS	Brain Hippocampus Middle	brain
42	chr14:69444200-69447400	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr14:69444400-69446200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr14:69444400-69446600	Active TSS	H1 Cell Line	embryonic stem cell
45	chr14:69444400-69446600	Active TSS	Primary monocytes fromperipheralblood	blood
46	chr14:69444400-69446600	Active TSS	Primary neutrophils fromperipheralblood	blood
47	chr14:69444400-69446600	Active TSS	Primary T cells from cord blood	blood
48	chr14:69444400-69446600	Active TSS	Muscle Satellite Cultured Cells	--
49	chr14:69444400-69446600	Active TSS	Stomach Smooth Muscle	stomach
50	chr14:69444400-69446600	Active TSS	GM12878-XiMat	blood

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