Variant report

Variant	rs73264538
Chromosome Location	chr5:147759202-147759203
allele	A/T
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	JUN	chr5:147758948-147759392	HUVEC	blood vessel:	n/a	n/a
2	GATA3	chr5:147758904-147759259	T-47D	breast:	n/a	n/a
3	POLR2A	chr5:147758921-147759239	HUVEC	blood vessel:	n/a	n/a
4	GATA3	chr5:147758875-147759278	T-47D	breast:	n/a	n/a
5	GATA2	chr5:147758861-147759277	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:147731930..147735672-chr5:147756711..147760235,3	K562	blood:
2	chr5:147756205..147758091-chr5:147758100..147760768,2	K562	blood:

Variant related genes	Relation type
FBXO38	TF binding region

rs_ID	r²[population]
rs59085946	1.00[AFR][1000 genomes]
rs60571666	0.80[AFR][1000 genomes]
rs73262415	1.00[AFR][1000 genomes]
rs73262419	1.00[AFR][1000 genomes]
rs73262421	1.00[AFR][1000 genomes]
rs73262464	1.00[AFR][1000 genomes]
rs73262467	1.00[AFR][1000 genomes]
rs73262487	1.00[AFR][1000 genomes]
rs73262488	1.00[AFR][1000 genomes]
rs73264521	1.00[AFR][1000 genomes]
rs73264579	0.89[AFR][1000 genomes]
rs73264581	0.85[AFR][1000 genomes]
rs73278512	0.80[AFR][1000 genomes]

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147729200-147762200	Weak transcription	Aorta	Aorta
2	chr5:147747800-147762400	Weak transcription	Ovary	ovary
3	chr5:147749800-147762200	Weak transcription	Adipose Nuclei	Adipose
4	chr5:147750000-147762400	Weak transcription	Brain Substantia Nigra	brain
5	chr5:147751200-147761800	Weak transcription	Fetal Brain Male	brain
6	chr5:147751400-147763000	Weak transcription	Esophagus	oesophagus
7	chr5:147751800-147762400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr5:147752200-147760800	Weak transcription	Fetal Lung	lung
9	chr5:147752600-147761000	Weak transcription	Brain Germinal Matrix	brain
10	chr5:147752600-147762200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:147752600-147762600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr5:147752800-147762600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr5:147752800-147762800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr5:147753200-147762200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr5:147754400-147762200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:147754400-147762200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr5:147754400-147762400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr5:147754600-147762400	Weak transcription	Stomach Mucosa	stomach
19	chr5:147754800-147762400	Weak transcription	Fetal Intestine Large	intestine
20	chr5:147755000-147762000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr5:147755000-147762200	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr5:147755400-147762000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr5:147755400-147762400	Weak transcription	Fetal Stomach	stomach
24	chr5:147755400-147762400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr5:147755400-147762600	Weak transcription	Fetal Muscle Trunk	muscle
26	chr5:147755600-147761600	Weak transcription	Right Atrium	heart
27	chr5:147755600-147762400	Weak transcription	Pancreas	Pancrea
28	chr5:147755600-147763000	Weak transcription	Lung	lung
29	chr5:147755800-147762400	Weak transcription	Fetal Muscle Leg	muscle
30	chr5:147756000-147762600	Weak transcription	Right Ventricle	heart
31	chr5:147756200-147762200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr5:147756600-147762800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr5:147757000-147760800	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr5:147757000-147763200	Weak transcription	Gastric	stomach
35	chr5:147757400-147762000	Enhancers	HUVEC	blood vessel
36	chr5:147757800-147761000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr5:147757800-147762400	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr5:147758200-147761000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr5:147758200-147761600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr5:147758200-147761600	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr5:147758200-147762000	Weak transcription	Liver	Liver
42	chr5:147758400-147760400	Weak transcription	Fetal Brain Female	brain
43	chr5:147758400-147760800	Weak transcription	Psoas Muscle	Psoas
44	chr5:147758400-147761000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr5:147758400-147761200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr5:147758400-147762200	Weak transcription	Brain Anterior Caudate	brain
47	chr5:147758400-147762200	Weak transcription	Brain Hippocampus Middle	brain
48	chr5:147758400-147762400	Weak transcription	Duodenum Mucosa	Duodenum
49	chr5:147758600-147760000	Enhancers	Primary T cells from cord blood	blood
50	chr5:147758600-147760800	Weak transcription	Left Ventricle	heart

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