Variant report

Variant	rs56300029
Chromosome Location	chr5:60919428-60919429
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:60627302..60631101-chr5:60914543..60920771,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000130449	Chromatin interaction

rs_ID	r²[population]
rs10053221	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11951145	0.89[EUR][1000 genomes]
rs11951156	0.81[EUR][1000 genomes]
rs1910026	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4413488	0.81[EUR][1000 genomes]
rs56241055	0.88[EUR][1000 genomes]
rs57300882	0.81[EUR][1000 genomes]
rs62365020	0.81[EUR][1000 genomes]
rs6883945	0.81[EUR][1000 genomes]

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60906600-60921400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:60906800-60921400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:60912400-60920800	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr5:60912600-60920600	Enhancers	Brain Substantia Nigra	brain
5	chr5:60912800-60920800	Enhancers	Brain Hippocampus Middle	brain
6	chr5:60913000-60920800	Enhancers	Brain Anterior Caudate	brain
7	chr5:60913400-60919800	Enhancers	Brain Angular Gyrus	brain
8	chr5:60914200-60921400	Weak transcription	Aorta	Aorta
9	chr5:60915400-60920800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr5:60915800-60920800	Weak transcription	Esophagus	oesophagus
11	chr5:60916200-60920800	Weak transcription	Right Ventricle	heart
12	chr5:60916200-60921000	Weak transcription	Left Ventricle	heart
13	chr5:60917000-60920600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr5:60917000-60920600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr5:60917000-60920800	Weak transcription	Colon Smooth Muscle	Colon
16	chr5:60917000-60921000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:60917000-60921000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr5:60917200-60920400	Weak transcription	Fetal Lung	lung
19	chr5:60917200-60920600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:60917200-60920800	Weak transcription	Liver	Liver
21	chr5:60917200-60921200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr5:60917400-60920800	Weak transcription	Adipose Nuclei	Adipose
23	chr5:60917400-60920800	Weak transcription	Fetal Stomach	stomach
24	chr5:60917400-60920800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr5:60917400-60921000	Weak transcription	Fetal Brain Male	brain
26	chr5:60917400-60921000	Weak transcription	Right Atrium	heart
27	chr5:60917400-60921600	Weak transcription	Gastric	stomach
28	chr5:60917600-60920400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr5:60917600-60920800	Enhancers	Brain Cingulate Gyrus	brain
30	chr5:60917600-60920800	Weak transcription	Fetal Muscle Trunk	muscle
31	chr5:60917600-60921000	Weak transcription	Ovary	ovary
32	chr5:60917600-60921000	Weak transcription	Pancreas	Pancrea
33	chr5:60917600-60921000	Weak transcription	Psoas Muscle	Psoas
34	chr5:60917600-60921200	Weak transcription	Lung	lung
35	chr5:60918000-60920400	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr5:60918400-60920400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr5:60918400-60920800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr5:60918400-60921000	Weak transcription	NH-A	brain
39	chr5:60918600-60920600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr5:60918600-60920800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr5:60918600-60921000	Weak transcription	Stomach Smooth Muscle	stomach
42	chr5:60918600-60921200	Weak transcription	Osteobl	bone
43	chr5:60919000-60920800	Enhancers	A549	lung
44	chr5:60919000-60921200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr5:60919200-60919800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr5:60919200-60921400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr5:60919400-60919600	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr5:60919400-60919600	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr5:60919400-60920400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr5:60919400-60920800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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