Variant report

Variant	rs11628773
Chromosome Location	chr14:69444661-69444662
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	MAFK	chr14:69444402-69444856	Hela-S3	cervix:	n/a	n/a
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	CREB1	chr14:69444340-69446611	HepG2	liver:	n/a	n/a
7	CTCF	chr14:69444580-69444730	GM12867	blood:	n/a	chr14:69444642-69444660 chr14:69444645-69444658
8	POLR2A	chr14:69443844-69447350	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr14:69444600-69444875	A549	lung:	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	CTCF	chr14:69444640-69444790	HCFaa	heart:	n/a	chr14:69444642-69444660 chr14:69444645-69444658
13	RAD21	chr14:69444651-69444827	HepG2	liver:	n/a	n/a
14	POLR2A	chr14:69444539-69445002	A549	lung:	n/a	n/a
15	CHD2	chr14:69444558-69445104	GM12878	blood:	n/a	n/a
16	CTCF	chr14:69444580-69444730	WERI-Rb-1	eye:	n/a	chr14:69444642-69444660 chr14:69444645-69444658
17	MYC	chr14:69444247-69444863	MCF10A-Er-Src	breast:	n/a	chr14:69444518-69444528
18	POLR2A	chr14:69444552-69445190	HepG2	liver:	n/a	n/a
19	CTCF	chr14:69444560-69444710	AG09309	skin:	n/a	chr14:69444642-69444660 chr14:69444645-69444658
20	TAF1	chr14:69444449-69445191	SK-N-SH	brain:	n/a	n/a
21	ELF1	chr14:69444415-69446561	MCF-7	breast:	n/a	chr14:69446050-69446062 chr14:69446060-69446072 chr14:69445127-69445139 chr14:69445490-69445499
22	POLR2A	chr14:69444570-69445430	H1-neurons	neurons:	n/a	n/a
23	RUNX3	chr14:69444485-69444834	GM12878	blood:	n/a	n/a
24	POLR2A	chr14:69444423-69446910	K562	blood:	n/a	n/a
25	CTCF	chr14:69444544-69444728	HepG2	liver:	n/a	chr14:69444642-69444660 chr14:69444645-69444658
26	CTCF	chr14:69444560-69444710	HRPEpiC	eye:	n/a	chr14:69444642-69444660 chr14:69444645-69444658
27	MXI1	chr14:69444650-69445548	HepG2	liver:	n/a	n/a
28	POLR2A	chr14:69443926-69446789	ProgFib	skin:	n/a	n/a
29	POLR2A	chr14:69444061-69446941	Hela-S3	cervix:	n/a	n/a
30	CHD2	chr14:69444265-69447147	Hela-S3	cervix:	n/a	chr14:69446695-69446705
31	CTCF	chr14:69444560-69444830	HFF-Myc	foreskin:	n/a	chr14:69444642-69444660 chr14:69444645-69444658
32	CTCF	chr14:69444560-69444710	HMF	breast:	n/a	chr14:69444642-69444660 chr14:69444645-69444658
33	MYC	chr14:69444604-69444809	MCF-7	breast:	n/a	n/a
34	RCOR1	chr14:69444315-69444838	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr14:69443144-69445570	HUVEC	blood vessel:	n/a	n/a
36	TCF12	chr14:69444285-69445023	ECC-1	luminal epithelium:	n/a	n/a
37	CTCF	chr14:69444600-69444750	HCPEpiC	choroid plexus:	n/a	chr14:69444642-69444660 chr14:69444645-69444658
38	POLR2A	chr14:69441718-69446518	HepG2	liver:	n/a	n/a
39	EP300	chr14:69444217-69444801	SK-N-SH_RA	brain:	n/a	n/a
40	POLR2A	chr14:69444536-69445580	HL-60	blood:	n/a	n/a
41	POLR2A	chr14:69444519-69446541	K562	blood:	n/a	n/a
42	CTCF	chr14:69444620-69444770	GM12865	blood:	n/a	chr14:69444642-69444660 chr14:69444645-69444658
43	RCOR1	chr14:69444653-69444811	HepG2	liver:	n/a	n/a
44	RAD21	chr14:69444507-69444827	H1-hESC	embryonic stem cell:	n/a	chr14:69444648-69444658
45	MXI1	chr14:69441660-69447416	IMR90	lung:	n/a	n/a
46	POLR2A	chr14:69444406-69446941	MCF-7	breast:	n/a	n/a
47	POLR2A	chr14:69444547-69445146	HepG2	liver:	n/a	n/a
48	CTCF	chr14:69444520-69444670	HEK293	kidney:	n/a	chr14:69444642-69444660 chr14:69444645-69444658
49	CTCF	chr14:69444560-69444710	AG10803	skin:	n/a	chr14:69444642-69444660 chr14:69444645-69444658
50	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

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	chr14:69261314..69263006-chr14:69442785..69445190,2	MCF-7	breast:
4	chr12:56435886..56436626-chr14:69444318..69444908,2	Hela-S3	cervix:
5	chr14:69385888..69393669-chr14:69442988..69447287,14	MCF-7	breast:
6	chr14:69402982..69422523-chr14:69436263..69448017,46	MCF-7	breast:
7	chr14:69444624..69445575-chr20:32890474..32891378,2	Hela-S3	cervix:
8	chr14:69443112..69445265-chr14:69618639..69620966,2	K562	blood:
9	chr14:69385676..69391979-chr14:69443116..69446617,6	MCF-7	breast:

Variant related genes	Relation type
ACTN1-AS1	TF binding region
ACTN1	TF binding region
ENSG00000258531	Chromatin interaction
ENSG00000197728	Chromatin interaction
ENSG00000077458	Chromatin interaction
ENSG00000139990	Chromatin interaction
ENSG00000166037	Chromatin interaction
ENSG00000072110	Chromatin interaction
ENSG00000101444	Chromatin interaction
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10139165	0.95[EUR][1000 genomes]
rs11627719	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs11628549	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28561965	0.93[EUR][1000 genomes]

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	chr14:69443000-69444800	Enhancers	Fetal Brain Male	brain
5	chr14:69443200-69445200	Flanking Active TSS	Adipose Nuclei	Adipose
6	chr14:69443200-69447000	Active TSS	Aorta	Aorta
7	chr14:69443400-69445000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr14:69443600-69445000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr14:69443600-69445400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr14:69443600-69446800	Active TSS	Esophagus	oesophagus
11	chr14:69443600-69447200	Active TSS	H9 Cell Line	embryonic stem cell
12	chr14:69443800-69445000	Flanking Active TSS	Brain Germinal Matrix	brain
13	chr14:69443800-69445600	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr14:69443800-69446800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr14:69443800-69446800	Active TSS	Right Atrium	heart
16	chr14:69443800-69446800	Active TSS	HSMM	muscle
17	chr14:69443800-69447200	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr14:69443800-69447400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr14:69444000-69445000	Flanking Active TSS	Colonic Mucosa	Colon
20	chr14:69444000-69445000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
21	chr14:69444000-69445000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
22	chr14:69444000-69445200	Flanking Active TSS	Fetal Muscle Trunk	muscle
23	chr14:69444000-69445400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr14:69444000-69445400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr14:69444000-69445400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
26	chr14:69444000-69446800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr14:69444000-69446800	Active TSS	Brain Angular Gyrus	brain
28	chr14:69444000-69446800	Active TSS	Brain Substantia Nigra	brain
29	chr14:69444000-69447200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr14:69444000-69447200	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr14:69444200-69444800	Flanking Active TSS	Dnd41	blood
32	chr14:69444200-69445000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr14:69444200-69445400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
34	chr14:69444200-69445400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
35	chr14:69444200-69446600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr14:69444200-69446800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr14:69444200-69446800	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr14:69444200-69446800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr14:69444200-69446800	Active TSS	Brain Anterior Caudate	brain
40	chr14:69444200-69446800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr14:69444200-69446800	Active TSS	Colon Smooth Muscle	Colon
42	chr14:69444200-69446800	Active TSS	Duodenum Mucosa	Duodenum
43	chr14:69444200-69446800	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr14:69444200-69446800	Active TSS	Fetal Intestine Large	intestine
45	chr14:69444200-69446800	Active TSS	Left Ventricle	heart
46	chr14:69444200-69446800	Active TSS	Pancreas	Pancrea
47	chr14:69444200-69446800	Active TSS	Placenta Amnion	Placenta Amnion
48	chr14:69444200-69446800	Active TSS	Psoas Muscle	Psoas
49	chr14:69444200-69446800	Active TSS	Rectal Smooth Muscle	rectum
50	chr14:69444200-69446800	Active TSS	Right Ventricle	heart

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