Variant report

Variant	rs369639264
Chromosome Location	chr14:70077979-70077980
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	ZNF143	chr14:70077942-70078086	Hela-S3	cervix:	n/a	n/a
2	MTA3	chr14:70077577-70078189	GM12878	blood:	n/a	n/a
3	POLR2A	chr14:70077893-70079405	GM19193	blood:	n/a	n/a
4	EP300	chr14:70077951-70078264	K562	blood:	n/a	n/a
5	HA-E2F1	chr14:70077848-70079443	MCF-7	breast:	n/a	chr14:70078246-70078253 chr14:70078246-70078253 chr14:70078241-70078256 chr14:70078246-70078253 chr14:70078389-70078401 chr14:70078245-70078257 chr14:70077929-70077936 chr14:70079335-70079352 chr14:70078801-70078811
6	MAZ	chr14:70077857-70079765	Hela-S3	cervix:	n/a	chr14:70078788-70078798 chr14:70079712-70079723
7	RCOR1	chr14:70077775-70078053	K562	blood:	n/a	n/a
8	USF2	chr14:70077848-70078121	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr14:70077896-70078914	HUVEC	blood vessel:	n/a	n/a
10	MXI1	chr14:70076983-70080833	IMR90	lung:	n/a	chr14:70077063-70077078
11	RAD21	chr14:70077949-70078214	IMR90	lung:	n/a	n/a
12	MXI1	chr14:70077937-70079009	HepG2	liver:	n/a	n/a
13	REST	chr14:70076933-70079378	H1-neurons	neurons:	n/a	chr14:70078837-70078850 chr14:70079296-70079309 chr14:70078771-70078789 chr14:70078864-70078877 chr14:70078774-70078787 chr14:70078867-70078880
14	SIN3A	chr14:70077858-70078919	GM12878	blood:	n/a	chr14:70078867-70078880 chr14:70078319-70078328 chr14:70078780-70078791
15	MAX	chr14:70077801-70079822	GM12878	blood:	n/a	chr14:70078788-70078798 chr14:70079712-70079723
16	MYC	chr14:70077559-70078785	A549	lung:	n/a	n/a
17	POLR2A	chr14:70077853-70078197	HCT-116	colon:	n/a	n/a
18	MAX	chr14:70077792-70079174	K562	blood:	n/a	chr14:70078788-70078798
19	WRNIP1	chr14:70077877-70078160	GM12878	blood:	n/a	n/a
20	RCOR1	chr14:70077078-70078894	K562	blood:	n/a	n/a
21	SP1	chr14:70077904-70078393	GM12878	blood:	n/a	chr14:70078236-70078250 chr14:70078241-70078248 chr14:70078373-70078387
22	EP300	chr14:70077908-70078359	GM12878	blood:	n/a	n/a
23	BHLHE40	chr14:70077931-70078480	K562	blood:	n/a	chr14:70078318-70078334 chr14:70078414-70078430
24	MAX	chr14:70077854-70079854	NB4	blood:	n/a	chr14:70078788-70078798 chr14:70079712-70079723
25	MYC	chr14:70077857-70078613	MCF10A-Er-Src	breast:	n/a	n/a
26	SIN3A	chr14:70077669-70079798	H1-hESC	embryonic stem cell:	n/a	chr14:70078867-70078880 chr14:70078319-70078328 chr14:70078780-70078791
27	SP1	chr14:70077888-70078244	GM12878	blood:	n/a	n/a
28	POLR2A	chr14:70077913-70078633	K562	blood:	n/a	n/a
29	MAX	chr14:70077652-70078721	H1-hESC	embryonic stem cell:	n/a	n/a
30	EBF1	chr14:70077830-70078363	GM12878	blood:	n/a	chr14:70078136-70078146 chr14:70078137-70078146
31	HDAC2	chr14:70077943-70079098	MCF-7	breast:	n/a	n/a
32	POLR2A	chr14:70077874-70078581	HCT-116	colon:	n/a	n/a
33	POLR2A	chr14:70077972-70078543	Hela-S3	cervix:	n/a	n/a
34	YY1	chr14:70077968-70078249	GM12878	blood:	n/a	n/a
35	EBF1	chr14:70077903-70078308	GM12878	blood:	n/a	chr14:70078136-70078146 chr14:70078137-70078146
36	ELF1	chr14:70077913-70079496	MCF-7	breast:	n/a	chr14:70078874-70078887 chr14:70078657-70078669
37	MAX	chr14:70077742-70078564	MCF-7	breast:	n/a	n/a
38	MXI1	chr14:70077918-70079915	Hela-S3	cervix:	n/a	n/a
39	TCF3	chr14:70077960-70078939	GM12878	blood:	n/a	n/a
40	KAP1	chr14:70077187-70078140	HEK293	kidney:	n/a	n/a
41	RFX5	chr14:70077757-70078522	Hela-S3	cervix:	n/a	chr14:70077912-70077928
42	SP1	chr14:70077832-70078510	A549	lung:	n/a	chr14:70078383-70078397 chr14:70078236-70078250 chr14:70078241-70078248 chr14:70078373-70078387
43	POLR2A	chr14:70077965-70078216	A549	lung:	n/a	n/a
44	MAX	chr14:70077603-70078678	HepG2	liver:	n/a	n/a
45	POLR2A	chr14:70077513-70079172	H1-neurons	neurons:	n/a	n/a
46	MAX	chr14:70077812-70078981	HepG2	liver:	n/a	chr14:70078788-70078798
47	NR2F2	chr14:70077461-70078084	K562	blood:	n/a	n/a
48	POLR2A	chr14:70077953-70078606	A549	lung:	n/a	n/a
49	CREB1	chr14:70077861-70078585	HepG2	liver:	n/a	n/a
50	IRF1	chr14:70077847-70078463	K562	blood:	n/a	chr14:70078233-70078247

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:70077930-70077980	HepG2	liver:	n/a
2	chr14:70077930-70077980	T-47D	breast:	n/a
3	chr14:70077930-70077980	LNCaP	prostate:	n/a
4	chr14:70077930-70077980	SAEC	small airway:	n/a
5	chr14:70077930-70077980	PrEC	prostate:	n/a
6	chr14:70077930-70077980	MCF-7	breast:	n/a
7	chr14:70077930-70077980	GM19239	blood:	n/a
8	chr14:70077930-70077980	HRCEpiC	kidney:	n/a
9	chr14:70077930-70077980	HIPEpiC	eye:	n/a
10	chr14:70077930-70077980	NH-A	brain:	n/a
11	chr14:70077930-70077980	HAEpiC	amniotic membrane:	n/a
12	chr14:70077930-70077980	Caco-2	colon:	n/a
13	chr14:70077930-70077980	HMEC	breast:	n/a
14	chr14:70077930-70077980	IMR90	lung:	fetal
15	chr14:70077930-70077980	HCM	heart:	n/a
16	chr14:70077930-70077980	AG10803	skin:	n/a
17	chr14:70077930-70077980	SKMC	muscle:	n/a
18	chr14:70077930-70077980	AG09309	skin:	n/a
19	chr14:70077930-70077980	HEK293	kidney:	embryo
20	chr14:70077930-70077980	AoSMC	blood vessel:	n/a
21	chr14:70077930-70077980	GM12878	blood:	n/a
22	chr14:70077930-70077980	HL-60	blood:	n/a
23	chr14:70077930-70077980	CMK	blood:	n/a
24	chr14:70077930-70077980	NHDF-neo	bronchial:	n/a
25	chr14:70077930-70077980	A549	lung:	n/a
26	chr14:70077930-70077980	HEEpiC	esophagus:	n/a
27	chr14:70077930-70077980	BE2_C	brain:	n/a
28	chr14:70077930-70077980	MCF10A-Er-Src	breast:	n/a
29	chr14:70077930-70077980	AG09319	gingival:	n/a
30	chr14:70077930-70077980	AG04449	skin:	fetal
31	chr14:70077930-70077980	RPTEC	kidney:	n/a
32	chr14:70077930-70077980	HCT-116	colon:	n/a
33	chr14:70077930-70077980	ProgFib	skin:	n/a
34	chr14:70077930-70077980	GM06990	blood:	n/a
35	chr14:70077930-70077980	GM12892	blood:	n/a
36	chr14:70077930-70077980	PANC-1	pancreas:	n/a
37	chr14:70077930-70077980	SK-N-MC	brain:	n/a
38	chr14:70077930-70077980	Jurkat	blood:	n/a
39	chr14:70077930-70077980	U87	brain:	n/a
40	chr14:70077930-70077980	HRE	kidney:	n/a
41	chr14:70077930-70077980	HPAEpiC	pulmonary alveolar:	n/a
42	chr14:70077930-70077980	SK-N-SH_RA	brain:	n/a
43	chr14:70077930-70077980	NT2-D1	testis:	n/a
44	chr14:70077930-70077980	NHBE	bronchial:	n/a
45	chr14:70077930-70077980	ovcar-3	ovarian:	n/a
46	chr14:70077930-70077980	K562	blood:	n/a
47	chr14:70077930-70077980	Hepatocyte	liver:	n/a
48	chr14:70077930-70077980	HUVEC	blood vessel:	n/a
49	chr14:70077930-70077980	AG04450	lung:	fetal
50	chr14:70077930-70077980	HCPEpiC	choroid plexus:	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:70076728..70078237-chr14:70177828..70179629,2	MCF-7	breast:
2	chr14:70075993..70078165-chr14:70168395..70170224,2	K562	blood:
3	chr14:70077972..70078597-chr14:70233346..70233919,2	HCT-116	colon:
4	chr14:70077094..70079754-chr14:70233044..70235632,2	K562	blood:
5	chr14:70077771..70080127-chr14:70232780..70235719,3	MCF-7	breast:
6	chr14:70075878..70078294-chr14:70112470..70114213,2	K562	blood:
7	chr14:70075993..70078093-chr14:70168395..70170520,2	K562	blood:
8	chr14:70076119..70078735-chr14:70193171..70195049,2	MCF-7	breast:

Variant related genes	Relation type
KIAA0247	TF binding region
KIAA0247	CpG island
ENSG00000100650	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	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv3388575	chr14:70077224-70080072	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70076800-70078000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
2	chr14:70076800-70078000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
3	chr14:70076800-70078000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
4	chr14:70076800-70078000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
5	chr14:70076800-70078000	Flanking Active TSS	Dnd41	blood
6	chr14:70076800-70078000	Flanking Active TSS	NHDF-Ad	bronchial
7	chr14:70076800-70079200	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr14:70077000-70078000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
9	chr14:70077000-70078000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
10	chr14:70077000-70078000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
11	chr14:70077000-70078000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr14:70077000-70078000	Flanking Active TSS	GM12878-XiMat	blood
13	chr14:70077000-70078000	Flanking Active TSS	NHEK	skin
14	chr14:70077000-70078000	Flanking Active TSS	Osteobl	bone
15	chr14:70077000-70078200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr14:70077000-70078200	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr14:70077000-70078400	Enhancers	Placenta Amnion	Placenta Amnion
18	chr14:70077200-70078000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr14:70077200-70078000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr14:70077200-70078000	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr14:70077200-70078000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
22	chr14:70077200-70078000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
23	chr14:70077200-70078000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
24	chr14:70077200-70078000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr14:70077200-70078000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr14:70077200-70078000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr14:70077200-70078000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr14:70077200-70078000	Flanking Active TSS	Brain Germinal Matrix	brain
29	chr14:70077200-70078000	Flanking Active TSS	Brain Hippocampus Middle	brain
30	chr14:70077200-70078000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
31	chr14:70077200-70078000	Flanking Active TSS	Fetal Muscle Trunk	muscle
32	chr14:70077200-70078000	Flanking Active TSS	Fetal Stomach	stomach
33	chr14:70077200-70078000	Flanking Active TSS	Fetal Thymus	thymus
34	chr14:70077200-70078200	Flanking Active TSS	HMEC	breast
35	chr14:70077200-70079200	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr14:70077400-70078000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr14:70077400-70078000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
38	chr14:70077400-70078000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr14:70077400-70078000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
40	chr14:70077400-70078000	Flanking Active TSS	Brain Substantia Nigra	brain
41	chr14:70077400-70078000	Flanking Active TSS	Fetal Intestine Small	intestine
42	chr14:70077400-70078000	Flanking Active TSS	Fetal Lung	lung
43	chr14:70077400-70078000	Flanking Active TSS	Rectal Smooth Muscle	rectum
44	chr14:70077400-70078000	Flanking Active TSS	Stomach Mucosa	stomach
45	chr14:70077400-70078000	Flanking Active TSS	Thymus	Thymus
46	chr14:70077400-70078000	Flanking Active TSS	HUVEC	blood vessel
47	chr14:70077400-70078200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
48	chr14:70077400-70078200	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr14:70077400-70078200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr14:70077400-70078200	Flanking Active TSS	Placenta	Placenta

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