Variant report

Variant	rs563345909
Chromosome Location	chr14:69444956-69444957
allele	A/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	EGR1	chr14:69444956-69445086	GM12878	blood:	n/a	chr14:69445035-69445048 chr14:69445030-69445052 chr14:69445035-69445045
2	CREB1	chr14:69444439-69445166	A549	lung:	n/a	n/a
3	POLR2A	chr14:69444538-69444989	PFSK-1	brain:	n/a	n/a
4	RAD21	chr14:69444142-69445598	SK-N-SH_RA	brain:	n/a	chr14:69444648-69444658
5	POLR2A	chr14:69444534-69446528	A549	lung:	n/a	n/a
6	ZKSCAN1	chr14:69444686-69445049	Hela-S3	cervix:	n/a	n/a
7	TAF1	chr14:69444765-69445625	H1-neurons	neurons:	n/a	n/a
8	CREB1	chr14:69444340-69446611	HepG2	liver:	n/a	n/a
9	POLR2A	chr14:69443844-69447350	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr14:69444452-69445530	SK-N-MC	brain:	n/a	n/a
11	MAX	chr14:69444601-69445528	K562	blood:	n/a	chr14:69445035-69445045
12	POLR2A	chr14:69444539-69445002	A549	lung:	n/a	n/a
13	CHD2	chr14:69444558-69445104	GM12878	blood:	n/a	n/a
14	POLR2A	chr14:69444876-69445606	K562	blood:	n/a	n/a
15	POLR2A	chr14:69444552-69445190	HepG2	liver:	n/a	n/a
16	POLR2A	chr14:69444670-69445468	K562	blood:	n/a	n/a
17	CEBPB	chr14:69444810-69445439	HepG2	liver:	n/a	chr14:69445003-69445014 chr14:69445002-69445015
18	TAF1	chr14:69444449-69445191	SK-N-SH	brain:	n/a	n/a
19	TCF12	chr14:69444721-69445679	ECC-1	luminal epithelium:	n/a	chr14:69445102-69445112 chr14:69445172-69445182
20	ELF1	chr14:69444415-69446561	MCF-7	breast:	n/a	chr14:69446050-69446062 chr14:69446060-69446072 chr14:69445127-69445139 chr14:69445490-69445499
21	POLR2A	chr14:69444570-69445430	H1-neurons	neurons:	n/a	n/a
22	POLR2A	chr14:69444423-69446910	K562	blood:	n/a	n/a
23	MXI1	chr14:69444650-69445548	HepG2	liver:	n/a	n/a
24	POLR2A	chr14:69443926-69446789	ProgFib	skin:	n/a	n/a
25	POLR2A	chr14:69444061-69446941	Hela-S3	cervix:	n/a	n/a
26	CHD2	chr14:69444265-69447147	Hela-S3	cervix:	n/a	chr14:69446695-69446705
27	POLR2A	chr14:69443144-69445570	HUVEC	blood vessel:	n/a	n/a
28	TCF12	chr14:69444285-69445023	ECC-1	luminal epithelium:	n/a	n/a
29	POLR2A	chr14:69441718-69446518	HepG2	liver:	n/a	n/a
30	CEBPB	chr14:69444754-69445232	ECC-1	luminal epithelium:	n/a	chr14:69445003-69445014 chr14:69445002-69445015
31	POLR2A	chr14:69444536-69445580	HL-60	blood:	n/a	n/a
32	POLR2A	chr14:69444519-69446541	K562	blood:	n/a	n/a
33	MXI1	chr14:69441660-69447416	IMR90	lung:	n/a	n/a
34	POLR2A	chr14:69444406-69446941	MCF-7	breast:	n/a	n/a
35	POLR2A	chr14:69444547-69445146	HepG2	liver:	n/a	n/a
36	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
37	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
38	CHD1	chr14:69441180-69450261	IMR90	lung:	n/a	chr14:69446695-69446705
39	POLR2A	chr14:69444490-69446488	MCF-7	breast:	n/a	n/a
40	POLR2A	chr14:69444480-69445124	U87	brain:	n/a	n/a
41	TBP	chr14:69444213-69446438	H1-hESC	embryonic stem cell:	n/a	n/a
42	SIN3AK20	chr14:69444472-69446557	MCF-7	breast:	n/a	n/a
43	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
44	POLR2A	chr14:69444728-69446500	K562	blood:	n/a	n/a
45	POLR2A	chr14:69444364-69446450	HCT-116	colon:	n/a	n/a
46	SIN3A	chr14:69444455-69447300	H1-hESC	embryonic stem cell:	n/a	chr14:69444765-69444778 chr14:69444777-69444790 chr14:69445945-69445958 chr14:69445831-69445844
47	POLR2A	chr14:69444408-69445598	PFSK-1	brain:	n/a	n/a
48	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
49	CEBPB	chr14:69444824-69445190	HepG2	liver:	n/a	chr14:69445003-69445014 chr14:69445002-69445015
50	POLR2A	chr14:69444408-69445029	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:69403117..69416483-chr14:69441657..69449888,50	MCF-7	breast:
2	chr11:95523122..95523849-chr14:69444207..69445109,2	Hela-S3	cervix:
3	chr14:69444907..69445454-chr5:54529568..54530240,2	Hela-S3	cervix:
4	chr11:82996354..82997171-chr14:69444714..69445547,2	Hela-S3	cervix:
5	chr14:69261314..69263006-chr14:69442785..69445190,2	MCF-7	breast:
6	chr14:69385888..69393669-chr14:69442988..69447287,14	MCF-7	breast:
7	chr14:69402982..69422523-chr14:69436263..69448017,46	MCF-7	breast:
8	chr14:69444624..69445575-chr20:32890474..32891378,2	Hela-S3	cervix:
9	chr14:69443112..69445265-chr14:69618639..69620966,2	K562	blood:
10	chr14:69385676..69391979-chr14:69443116..69446617,6	MCF-7	breast:

Variant related genes	Relation type
ACTN1-AS1	TF binding region
ACTN1	TF binding region
ENSG00000101444	Chromatin interaction
ENSG00000137500	Chromatin interaction
ENSG00000072110	Chromatin interaction
ENSG00000258531	Chromatin interaction
ENSG00000166037	Chromatin interaction
ENSG00000139990	Chromatin interaction
ENSG00000077458	Chromatin interaction
ENSG00000251307	Chromatin interaction
ENSG00000185650	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69441200-69445200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr14:69441800-69445200	Transcr. at gene 5' and 3'	A549	lung
3	chr14:69442200-69445200	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr14:69443200-69445200	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr14:69443200-69447000	Active TSS	Aorta	Aorta
6	chr14:69443400-69445000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
7	chr14:69443600-69445000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr14:69443600-69445400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr14:69443600-69446800	Active TSS	Esophagus	oesophagus
10	chr14:69443600-69447200	Active TSS	H9 Cell Line	embryonic stem cell
11	chr14:69443800-69445000	Flanking Active TSS	Brain Germinal Matrix	brain
12	chr14:69443800-69445600	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr14:69443800-69446800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr14:69443800-69446800	Active TSS	Right Atrium	heart
15	chr14:69443800-69446800	Active TSS	HSMM	muscle
16	chr14:69443800-69447200	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr14:69443800-69447400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr14:69444000-69445000	Flanking Active TSS	Colonic Mucosa	Colon
19	chr14:69444000-69445000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
20	chr14:69444000-69445000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
21	chr14:69444000-69445200	Flanking Active TSS	Fetal Muscle Trunk	muscle
22	chr14:69444000-69445400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr14:69444000-69445400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr14:69444000-69445400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
25	chr14:69444000-69446800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr14:69444000-69446800	Active TSS	Brain Angular Gyrus	brain
27	chr14:69444000-69446800	Active TSS	Brain Substantia Nigra	brain
28	chr14:69444000-69447200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr14:69444000-69447200	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr14:69444200-69445000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
31	chr14:69444200-69445400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
32	chr14:69444200-69445400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
33	chr14:69444200-69446600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr14:69444200-69446800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr14:69444200-69446800	Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr14:69444200-69446800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr14:69444200-69446800	Active TSS	Brain Anterior Caudate	brain
38	chr14:69444200-69446800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr14:69444200-69446800	Active TSS	Colon Smooth Muscle	Colon
40	chr14:69444200-69446800	Active TSS	Duodenum Mucosa	Duodenum
41	chr14:69444200-69446800	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr14:69444200-69446800	Active TSS	Fetal Intestine Large	intestine
43	chr14:69444200-69446800	Active TSS	Left Ventricle	heart
44	chr14:69444200-69446800	Active TSS	Pancreas	Pancrea
45	chr14:69444200-69446800	Active TSS	Placenta Amnion	Placenta Amnion
46	chr14:69444200-69446800	Active TSS	Psoas Muscle	Psoas
47	chr14:69444200-69446800	Active TSS	Rectal Smooth Muscle	rectum
48	chr14:69444200-69446800	Active TSS	Right Ventricle	heart
49	chr14:69444200-69446800	Active TSS	NHEK	skin
50	chr14:69444200-69446800	Active TSS	NHLF	lung

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