Variant report

Variant	rs2145156
Chromosome Location	chr14:69095279-69095280
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr14:69094959-69095319	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr14:69094964-69095325	HCT-116	colon:	n/a	n/a
3	POLR2A	chr14:69095027-69095448	H1-hESC	embryonic stem cell:	n/a	n/a
4	MYC	chr14:69095010-69095713	H1-hESC	embryonic stem cell:	n/a	chr14:69095552-69095562 chr14:69095383-69095394
5	TAF1	chr14:69094882-69096042	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr14:69094883-69096211	MCF-7	breast:	n/a	chr14:69095552-69095562 chr14:69095383-69095394
7	POLR2A	chr14:69094967-69095454	H1-hESC	embryonic stem cell:	n/a	n/a
8	GATA3	chr14:69095089-69096198	MCF-7	breast:	n/a	chr14:69095338-69095347
9	TAF1	chr14:69094975-69095500	H1-hESC	embryonic stem cell:	n/a	n/a
10	RAD21	chr14:69094869-69095452	H1-hESC	embryonic stem cell:	n/a	n/a
11	GATA3	chr14:69094900-69096222	MCF-7	breast:	n/a	chr14:69095338-69095347
12	GATA3	chr14:69095227-69096142	T-47D	breast:	n/a	chr14:69095338-69095347
13	NRF1	chr14:69094910-69095308	H1-hESC	embryonic stem cell:	n/a	chr14:69095114-69095123 chr14:69095112-69095126 chr14:69095112-69095121 chr14:69095112-69095123 chr14:69095107-69095116 chr14:69095109-69095123
14	POLR2A	chr14:69095015-69095464	MCF-7	breast:	n/a	n/a
15	CEBPB	chr14:69095008-69096151	MCF-7	breast:	n/a	chr14:69096058-69096069
16	POLR2A	chr14:69094764-69096219	H1-hESC	embryonic stem cell:	n/a	n/a
17	GATA3	chr14:69094959-69096109	T-47D	breast:	n/a	chr14:69095338-69095347
18	MAX	chr14:69094913-69095980	H1-hESC	embryonic stem cell:	n/a	chr14:69095552-69095562 chr14:69095383-69095394
19	POLR2A	chr14:69094941-69095564	H1-hESC	embryonic stem cell:	n/a	n/a
20	FOXA1	chr14:69095203-69096136	T-47D	breast:	n/a	n/a
21	NR2F2	chr14:69094903-69096159	MCF-7	breast:	n/a	n/a
22	POLR2A	chr14:69095003-69095288	HCT-116	colon:	n/a	n/a
23	MAX	chr14:69094817-69095932	H1-hESC	embryonic stem cell:	n/a	chr14:69095552-69095562 chr14:69095383-69095394
24	RAD21	chr14:69095234-69096264	MCF-7	breast:	n/a	chr14:69095710-69095722
25	SP4	chr14:69094912-69095305	H1-hESC	embryonic stem cell:	n/a	n/a
26	FOXA1	chr14:69095210-69096163	T-47D	breast:	n/a	n/a
27	EP300	chr14:69095031-69096106	T-47D	breast:	n/a	chr14:69095157-69095173 chr14:69095170-69095186
28	HDAC2	chr14:69094790-69096237	MCF-7	breast:	n/a	chr14:69095439-69095453 chr14:69095112-69095121
29	POLR2A	chr14:69095004-69095368	MCF-7	breast:	n/a	n/a
30	GTF2F1	chr14:69095042-69095340	H1-hESC	embryonic stem cell:	n/a	n/a
31	TBP	chr14:69094973-69095285	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr14:69095002-69095381	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:69095231-69095281	HRCEpiC	kidney:	n/a
2	chr14:69095231-69095281	ECC-1	luminal epithelium:	n/a
3	chr14:69095231-69095281	GM12891	blood:	n/a
4	chr14:69095231-69095281	HCF	heart:	n/a
5	chr14:69095231-69095281	NH-A	brain:	n/a
6	chr14:69095231-69095281	SK-N-SH	brain:	n/a
7	chr14:69095231-69095281	HMEC	breast:	n/a
8	chr14:69095231-69095281	HCM	heart:	n/a
9	chr14:69095231-69095281	MCF-7	breast:	n/a
10	chr14:69095231-69095281	SAEC	small airway:	n/a
11	chr14:69095231-69095281	ovcar-3	ovarian:	n/a
12	chr14:69095231-69095281	HRE	kidney:	n/a
13	chr14:69095231-69095281	HPAEpiC	pulmonary alveolar:	n/a
14	chr14:69095231-69095281	PANC-1	pancreas:	n/a
15	chr14:69095231-69095281	K562	blood:	n/a
16	chr14:69095231-69095281	HUVEC	blood vessel:	n/a
17	chr14:69095231-69095281	HEK293	kidney:	embryo
18	chr14:69095231-69095281	MCF10A-Er-Src	breast:	n/a
19	chr14:69095231-69095281	HRPEpiC	eye:	n/a
20	chr14:69095231-69095281	HCPEpiC	choroid plexus:	n/a
21	chr14:69095231-69095281	NT2-D1	testis:	n/a
22	chr14:69095231-69095281	AoSMC	blood vessel:	n/a
23	chr14:69095231-69095281	U87	brain:	n/a
24	chr14:69095231-69095281	ProgFib	skin:	n/a
25	chr14:69095231-69095281	H1-hESC	embryonic stem cell:	embryo
26	chr14:69095231-69095281	IMR90	lung:	fetal
27	chr14:69095231-69095281	A549	lung:	n/a
28	chr14:69095231-69095281	SKMC	muscle:	n/a
29	chr14:69095231-69095281	AG10803	skin:	n/a
30	chr14:69095231-69095281	HCT-116	colon:	n/a
31	chr14:69095231-69095281	BE2_C	brain:	n/a
32	chr14:69095231-69095281	Caco-2	colon:	n/a
33	chr14:69095231-69095281	AG09309	skin:	n/a
34	chr14:69095231-69095281	BJ	skin:	n/a
35	chr14:69095231-69095281	Hepatocyte	liver:	n/a
36	chr14:69095231-69095281	SK-N-MC	brain:	n/a
37	chr14:69095231-69095281	HAEpiC	amniotic membrane:	n/a
38	chr14:69095231-69095281	PrEC	prostate:	n/a
39	chr14:69095231-69095281	HNPCEpiC	eye:	n/a
40	chr14:69095231-69095281	GM12878	blood:	n/a
41	chr14:69095231-69095281	NB4	blood:	n/a
42	chr14:69095231-69095281	HepG2	liver:	n/a
43	chr14:69095231-69095281	T-47D	breast:	n/a
44	chr14:69095231-69095281	NHDF-neo	bronchial:	n/a
45	chr14:69095231-69095281	HEEpiC	esophagus:	n/a
46	chr14:69095231-69095281	HL-60	blood:	n/a
47	chr14:69095231-69095281	Hela-S3	cervix:	n/a
48	chr14:69095231-69095281	PFSK-1	brain:	n/a
49	chr14:69095231-69095281	AG04450	lung:	fetal
50	chr14:69095231-69095281	LNCaP	prostate:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:69091753..69104091-chr14:69256141..69263760,20	MCF-7	breast:
2	chr14:69090615..69103406-chr14:69249821..69264188,29	MCF-7	breast:
3	chr14:69094921..69095555-chr5:137673535..137674260,2	HCT-116	colon:
4	chr14:69094450..69096526-chr21:43784501..43786843,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000259038	TF binding region
ENSG00000259038	CpG island
ENSG00000158402	Chromatin interaction
ENSG00000185650	Chromatin interaction
ENSG00000160182	Chromatin interaction
ENSG00000120709	Chromatin interaction

rs_ID	r²[population]
rs10438159	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11847037	0.93[EUR][1000 genomes]
rs11848320	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs11850918	0.91[EUR][1000 genomes]
rs17756651	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17834977	0.87[CEU][hapmap];0.93[EUR][1000 genomes]
rs17835116	0.81[EUR][1000 genomes]
rs55779318	0.81[EUR][1000 genomes]
rs55877285	0.81[EUR][1000 genomes]
rs56070472	0.81[EUR][1000 genomes]
rs61987106	0.91[EUR][1000 genomes]
rs61987107	0.81[EUR][1000 genomes]
rs61987114	0.81[EUR][1000 genomes]
rs61987120	0.81[EUR][1000 genomes]
rs8009601	0.87[CEU][hapmap];1.00[EUR][1000 genomes]
rs8017092	0.93[EUR][1000 genomes]

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69086600-69098000	Enhancers	Placenta Amnion	Placenta Amnion
2	chr14:69087000-69098400	Weak transcription	NHLF	lung
3	chr14:69087400-69097000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr14:69092200-69107000	Enhancers	Fetal Muscle Leg	muscle
5	chr14:69092400-69101400	Enhancers	Right Atrium	heart
6	chr14:69092600-69096400	Enhancers	Fetal Heart	heart
7	chr14:69092800-69098800	Enhancers	HepG2	liver
8	chr14:69093000-69104400	Enhancers	Fetal Lung	lung
9	chr14:69093400-69099400	Weak transcription	Lung	lung
10	chr14:69093400-69099400	Weak transcription	Psoas Muscle	Psoas
11	chr14:69093400-69099800	Weak transcription	NHDF-Ad	bronchial
12	chr14:69093600-69095400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr14:69093600-69096000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr14:69093600-69097200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr14:69094200-69095800	Enhancers	Fetal Brain Male	brain
16	chr14:69094200-69096000	Enhancers	Fetal Muscle Trunk	muscle
17	chr14:69094200-69096800	Enhancers	Adipose Nuclei	Adipose
18	chr14:69094200-69099800	Weak transcription	HSMMtube	muscle
19	chr14:69094400-69095400	Active TSS	Brain Cingulate Gyrus	brain
20	chr14:69094400-69095600	Weak transcription	K562	blood
21	chr14:69094400-69096200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr14:69094400-69096800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:69094400-69096800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr14:69094400-69097000	Weak transcription	Right Ventricle	heart
25	chr14:69094400-69098200	Weak transcription	Ovary	ovary
26	chr14:69094400-69098200	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr14:69094400-69098400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr14:69094400-69099800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr14:69094600-69095400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr14:69094600-69095400	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr14:69094600-69095600	Active TSS	Rectal Smooth Muscle	rectum
32	chr14:69094600-69095800	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr14:69094600-69097000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr14:69094600-69097800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr14:69094800-69095400	Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr14:69094800-69095400	Active TSS	Brain Substantia Nigra	brain
37	chr14:69094800-69095400	Active TSS	Fetal Brain Female	brain
38	chr14:69094800-69095400	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr14:69094800-69095400	Active TSS	Osteobl	bone
40	chr14:69094800-69095600	Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr14:69094800-69095600	Flanking Active TSS	Primary B cells from cord blood	blood
42	chr14:69094800-69095600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
43	chr14:69094800-69095600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr14:69094800-69095600	Flanking Active TSS	Fetal Stomach	stomach
45	chr14:69094800-69095800	Flanking Active TSS	Primary T cells from cord blood	blood
46	chr14:69094800-69095800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
47	chr14:69094800-69095800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr14:69094800-69095800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr14:69094800-69095800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
50	chr14:69094800-69095800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood

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