Variant report

Variant	rs72716642
Chromosome Location	chr14:55539043-55539044
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55537620..55541123-chr14:55657205..55659374,4	MCF-7	breast:
2	chr14:55537560..55539994-chr14:55540251..55542557,2	K562	blood:
3	chr14:55536769..55540247-chr14:55595569..55598545,3	MCF-7	breast:
4	chr14:55536490..55539101-chr14:55568903..55571706,2	K562	blood:
5	chr14:55519061..55521585-chr14:55537812..55539825,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000126787	Chromatin interaction
ENSG00000131981	Chromatin interaction

rs_ID	r²[population]
rs17128147	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35954941	0.86[EUR][1000 genomes]
rs58481989	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72715588	1.00[EUR][1000 genomes]
rs72715590	1.00[EUR][1000 genomes]
rs72715591	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72715592	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72716643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72716646	0.94[AFR][1000 genomes]
rs72716648	1.00[EUR][1000 genomes]
rs72716652	1.00[EUR][1000 genomes]
rs72716654	1.00[EUR][1000 genomes]
rs72716661	1.00[EUR][1000 genomes]
rs72716663	0.86[EUR][1000 genomes]
rs72716665	0.86[EUR][1000 genomes]
rs72716666	0.86[EUR][1000 genomes]
rs72716668	0.86[EUR][1000 genomes]
rs72716676	0.86[EUR][1000 genomes]
rs72716677	0.86[EUR][1000 genomes]
rs72716678	0.86[EUR][1000 genomes]
rs72716681	0.86[EUR][1000 genomes]
rs72716688	0.86[EUR][1000 genomes]
rs72716690	0.86[EUR][1000 genomes]
rs72716692	0.86[EUR][1000 genomes]
rs72716698	0.86[EUR][1000 genomes]
rs72718806	0.86[EUR][1000 genomes]
rs72718810	0.86[EUR][1000 genomes]
rs72718813	0.86[EUR][1000 genomes]
rs72718815	0.86[EUR][1000 genomes]
rs72718818	0.86[EUR][1000 genomes]

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55530000-55544200	Weak transcription	Right Atrium	heart
2	chr14:55530000-55544200	Weak transcription	Right Ventricle	heart
3	chr14:55530000-55554000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:55530600-55541400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr14:55530800-55544200	Weak transcription	Colonic Mucosa	Colon
6	chr14:55531000-55539200	Weak transcription	Thymus	Thymus
7	chr14:55531000-55544200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr14:55531600-55541200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr14:55532400-55544000	Weak transcription	Esophagus	oesophagus
10	chr14:55532600-55541600	Weak transcription	HepG2	liver
11	chr14:55533400-55541400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr14:55534800-55541200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr14:55535000-55544400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr14:55535600-55544000	Weak transcription	A549	lung
15	chr14:55536600-55543000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr14:55536600-55544200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr14:55536800-55540800	Weak transcription	K562	blood
18	chr14:55537400-55539200	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr14:55537400-55539600	Enhancers	HUVEC	blood vessel
20	chr14:55537800-55539600	Enhancers	Muscle Satellite Cultured Cells	--
21	chr14:55537800-55539800	Enhancers	Colon Smooth Muscle	Colon
22	chr14:55537800-55540000	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr14:55538000-55539400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr14:55538000-55539400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr14:55538000-55539400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr14:55538000-55539600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr14:55538000-55539600	Enhancers	Fetal Muscle Leg	muscle
28	chr14:55538000-55539800	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr14:55538000-55539800	Enhancers	Placenta Amnion	Placenta Amnion
30	chr14:55538000-55539800	Flanking Active TSS	GM12878-XiMat	blood
31	chr14:55538000-55540000	Enhancers	NHDF-Ad	bronchial
32	chr14:55538000-55541000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr14:55538000-55542800	Enhancers	HSMM	muscle
34	chr14:55538000-55543000	Enhancers	HMEC	breast
35	chr14:55538200-55539800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr14:55538200-55539800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr14:55538200-55539800	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr14:55538200-55539800	Enhancers	NHLF	lung
39	chr14:55538200-55542800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr14:55538400-55539200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
41	chr14:55538400-55539200	Enhancers	Hela-S3	cervix
42	chr14:55538400-55539400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr14:55538400-55539400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr14:55538400-55539400	Enhancers	Fetal Lung	lung
45	chr14:55538400-55539600	Enhancers	Fetal Heart	heart
46	chr14:55538400-55539800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr14:55538400-55539800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr14:55538400-55539800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr14:55538400-55543000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr14:55538600-55539200	Enhancers	HUES6 Cell Line	embryonic stem cell

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