Variant report

Variant	rs8016954
Chromosome Location	chr14:69416967-69416968
allele	C/T
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	NR3C1	chr14:69416870-69417148	A549	lung:	n/a	n/a
2	NR3C1	chr14:69416842-69417164	A549	lung:	n/a	n/a
3	NR3C1	chr14:69416745-69417321	A549	lung:	n/a	n/a
4	FOS	chr14:69416919-69417162	MCF10A-Er-Src	breast:	n/a	n/a
5	CEBPB	chr14:69416808-69417170	HepG2	liver:	n/a	chr14:69417064-69417075
6	FOS	chr14:69416917-69417136	MCF10A-Er-Src	breast:	n/a	n/a
7	CEBPB	chr14:69416826-69417261	K562	blood:	n/a	chr14:69417064-69417075
8	RCOR1	chr14:69416936-69417100	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr14:69416801-69417259	A549	lung:	n/a	chr14:69417064-69417075
10	CEBPB	chr14:69416796-69417262	Hela-S3	cervix:	n/a	chr14:69417064-69417075
11	CEBPB	chr14:69416818-69417277	ECC-1	luminal epithelium:	n/a	chr14:69417064-69417075
12	CEBPB	chr14:69416828-69417258	A549	lung:	n/a	chr14:69417064-69417075
13	FOXA2	chr14:69416918-69417121	HepG2	liver:	n/a	n/a
14	CEBPB	chr14:69416866-69417172	HCT-116	colon:	n/a	chr14:69417064-69417075
15	FOS	chr14:69416882-69417168	MCF10A-Er-Src	breast:	n/a	n/a
16	CEBPB	chr14:69416855-69417259	HepG2	liver:	n/a	chr14:69417064-69417075
17	FOS	chr14:69416925-69417154	MCF10A-Er-Src	breast:	n/a	n/a
18	ZNF384	chr14:69416868-69417239	K562	blood:	n/a	n/a
19	NR3C1	chr14:69416854-69417156	A549	lung:	n/a	n/a
20	CEBPB	chr14:69416807-69417255	K562	blood:	n/a	chr14:69417064-69417075
21	CEBPB	chr14:69416887-69417293	MCF-7	breast:	n/a	chr14:69417064-69417075
22	STAT3	chr14:69416851-69417277	MCF10A-Er-Src	breast:	n/a	n/a
23	EP300	chr14:69416917-69417128	Hela-S3	cervix:	n/a	n/a
24	HDAC2	chr14:69416899-69417174	HepG2	liver:	n/a	n/a
25	CEBPB	chr14:69416901-69417192	H1-hESC	embryonic stem cell:	n/a	chr14:69417064-69417075
26	STAT3	chr14:69416887-69417131	MCF10A-Er-Src	breast:	n/a	n/a
27	CEBPB	chr14:69416825-69417165	HepG2	liver:	n/a	chr14:69417064-69417075
28	STAT3	chr14:69416922-69417341	MCF10A-Er-Src	breast:	n/a	n/a
29	STAT3	chr14:69416883-69417278	MCF10A-Er-Src	breast:	n/a	n/a
30	NR3C1	chr14:69416710-69417315	A549	lung:	n/a	n/a
31	CEBPB	chr14:69416434-69417254	IMR90	lung:	n/a	chr14:69417064-69417075
32	CEBPB	chr14:69416878-69417284	MCF-7	breast:	n/a	chr14:69417064-69417075
33	CEBPB	chr14:69416905-69417280	ECC-1	luminal epithelium:	n/a	chr14:69417064-69417075
34	RFX5	chr14:69416923-69417123	Hela-S3	cervix:	n/a	n/a
35	FOXA1	chr14:69416955-69417157	A549	lung:	n/a	n/a
36	NR3C1	chr14:69416925-69417160	A549	lung:	n/a	n/a
37	CEBPB	chr14:69416787-69417179	HepG2	liver:	n/a	chr14:69417064-69417075
38	CEBPB	chr14:69416895-69417178	K562	blood:	n/a	chr14:69417064-69417075
39	CEBPB	chr14:69416717-69417367	A549	lung:	n/a	chr14:69417064-69417075

No.	Distal block	Cell Line	Cell type
1	chr14:69402982..69422523-chr14:69436263..69448017,46	MCF-7	breast:
2	chr14:69415039..69417585-chr14:69434781..69436421,2	K562	blood:
3	chr14:69416728..69419632-chr14:69444085..69445765,2	K562	blood:
4	chr14:69414883..69418076-chr14:69430003..69433073,3	MCF-7	breast:
5	chr14:69408156..69410097-chr14:69416142..69418245,3	MCF-7	breast:
6	chr14:69415496..69418191-chr14:69439013..69440768,2	MCF-7	breast:
7	chr14:69416508..69419885-chr14:69443178..69447156,6	MCF-7	breast:
8	chr14:69404437..69408069-chr14:69415844..69420142,4	MCF-7	breast:

Variant related genes	Relation type
ACTN1	TF binding region
ENSG00000259062	Chromatin interaction
ENSG00000072110	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10145285	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4899272	0.81[AMR][1000 genomes]
rs4902677	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902679	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs743128	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs761900	0.82[AMR][1000 genomes]
rs8016977	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv564964	chr14:69392264-69423164	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69387400-69420400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr14:69394200-69422200	Weak transcription	Dnd41	blood
3	chr14:69399000-69423200	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr14:69400400-69417000	Enhancers	Fetal Muscle Leg	muscle
5	chr14:69400800-69420400	Enhancers	Fetal Lung	lung
6	chr14:69402000-69426200	Enhancers	Primary T cells fromperipheralblood	blood
7	chr14:69402200-69425200	Enhancers	Right Atrium	heart
8	chr14:69402400-69423600	Enhancers	Fetal Heart	heart
9	chr14:69402400-69427000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr14:69403600-69420400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr14:69404200-69417000	Enhancers	Right Ventricle	heart
12	chr14:69406400-69417800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:69407000-69419600	Weak transcription	Fetal Brain Male	brain
14	chr14:69409800-69434400	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr14:69410200-69420200	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr14:69410600-69418200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr14:69411200-69442600	Weak transcription	Fetal Brain Female	brain
18	chr14:69411400-69417800	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr14:69411800-69417400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr14:69412000-69419200	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr14:69412200-69420400	Enhancers	Placenta	Placenta
22	chr14:69412400-69420400	Enhancers	Placenta Amnion	Placenta Amnion
23	chr14:69412800-69419400	Weak transcription	Fetal Kidney	kidney
24	chr14:69413000-69417800	Enhancers	HepG2	liver
25	chr14:69413000-69419000	Enhancers	NHDF-Ad	bronchial
26	chr14:69413000-69419200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr14:69413400-69423800	Enhancers	HUVEC	blood vessel
28	chr14:69413600-69417800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr14:69413800-69418200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr14:69413800-69419800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr14:69414200-69417600	Enhancers	NH-A	brain
32	chr14:69414400-69417600	Weak transcription	Thymus	Thymus
33	chr14:69414600-69418000	Enhancers	NHLF	lung
34	chr14:69414600-69418400	Enhancers	Primary T cells from cord blood	blood
35	chr14:69414800-69417000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr14:69414800-69417800	Weak transcription	Primary hematopoietic stem cells	blood
37	chr14:69414800-69419000	Enhancers	HMEC	breast
38	chr14:69414800-69428800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr14:69415000-69417200	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr14:69415000-69418200	Enhancers	Colon Smooth Muscle	Colon
41	chr14:69415000-69419200	Genic enhancers	Osteobl	bone
42	chr14:69415000-69419400	Genic enhancers	NHEK	skin
43	chr14:69415200-69417600	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr14:69415200-69423400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr14:69415800-69417400	Enhancers	Hela-S3	cervix
46	chr14:69415800-69417600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr14:69415800-69417600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr14:69415800-69417600	Weak transcription	Psoas Muscle	Psoas
49	chr14:69416000-69417600	Enhancers	A549	lung
50	chr14:69416000-69417800	Weak transcription	Brain Inferior Temporal Lobe	brain

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