Variant report

Variant	rs72716643
Chromosome Location	chr14:55541228-55541229
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55532764..55536002-chr14:55540824..55544423,3	MCF-7	breast:
2	chr14:55516915..55519975-chr14:55539860..55542972,3	MCF-7	breast:
3	chr14:55540168..55541709-chr14:55541911..55544234,2	MCF-7	breast:
4	chr14:55540374..55545656-chr14:55545839..55552985,7	K562	blood:
5	chr14:55537560..55539994-chr14:55540251..55542557,2	K562	blood:
6	chr14:55541160..55544026-chr14:55549457..55552985,4	K562	blood:

Variant related genes	Relation type
ENSG00000168175	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]
rs72716642	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:85 , 50 per page) page: 1 2

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	chr14:55531000-55544200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr14:55532400-55544000	Weak transcription	Esophagus	oesophagus
8	chr14:55532600-55541600	Weak transcription	HepG2	liver
9	chr14:55533400-55541400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr14:55535000-55544400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr14:55535600-55544000	Weak transcription	A549	lung
12	chr14:55536600-55543000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr14:55536600-55544200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr14:55538000-55542800	Enhancers	HSMM	muscle
15	chr14:55538000-55543000	Enhancers	HMEC	breast
16	chr14:55538200-55542800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr14:55538400-55543000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr14:55539000-55541400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr14:55539000-55541400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:55539200-55541400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr14:55539200-55541600	Enhancers	Rectal Smooth Muscle	rectum
22	chr14:55539200-55543800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr14:55539200-55544400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr14:55539400-55541400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr14:55539400-55541400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr14:55539400-55541400	Enhancers	Osteobl	bone
27	chr14:55539400-55541800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr14:55539400-55542800	Enhancers	Primary B cells from peripheral blood	blood
29	chr14:55539400-55542800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr14:55539400-55543200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr14:55539400-55544000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr14:55539600-55541400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr14:55539600-55541400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr14:55539600-55541400	Weak transcription	Duodenum Mucosa	Duodenum
35	chr14:55539600-55541400	Weak transcription	Psoas Muscle	Psoas
36	chr14:55539600-55541400	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr14:55539600-55541400	Enhancers	NHEK	skin
38	chr14:55539600-55541800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr14:55539600-55542000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr14:55539600-55542200	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr14:55539600-55543200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr14:55539600-55543600	Weak transcription	Placenta	Placenta
43	chr14:55539600-55543800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr14:55539600-55543800	Weak transcription	Fetal Intestine Large	intestine
45	chr14:55539600-55544400	Weak transcription	Left Ventricle	heart
46	chr14:55539800-55541400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr14:55539800-55541400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr14:55539800-55543600	Weak transcription	Fetal Intestine Small	intestine
49	chr14:55540200-55541400	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr14:55540200-55541400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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