Variant report

Variant	rs1721483
Chromosome Location	chr7:105266807-105266808
allele	A/G
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	POLR2A	chr7:105266181-105267527	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:105265321..105267666-chr7:105272124..105274212,2	MCF-7	breast:
2	chr7:105260116..105262504-chr7:105265345..105267346,4	K562	blood:

Variant related genes	Relation type
ATXN7L1	TF binding region

rs_ID	r²[population]
rs1721486	0.91[CHB][hapmap];0.90[JPT][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:105239400-105289000	Weak transcription	Right Atrium	heart
2	chr7:105240400-105284400	Weak transcription	HSMMtube	muscle
3	chr7:105242200-105273800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr7:105243200-105280200	Weak transcription	Stomach Mucosa	stomach
5	chr7:105243400-105289200	Weak transcription	NHDF-Ad	bronchial
6	chr7:105246200-105282600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr7:105247000-105308800	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr7:105248000-105278200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:105252200-105285400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr7:105252200-105285600	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr7:105252400-105268200	Strong transcription	Thymus	Thymus
12	chr7:105252400-105268800	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr7:105252400-105285200	Strong transcription	Primary T helper cells PMA-I stimulated	--
14	chr7:105252600-105267600	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr7:105252600-105290200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr7:105252800-105283800	Weak transcription	NH-A	brain
17	chr7:105252800-105285400	Strong transcription	Fetal Thymus	thymus
18	chr7:105253000-105267400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr7:105253000-105267800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr7:105253000-105267800	Strong transcription	Liver	Liver
21	chr7:105253000-105268800	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr7:105254000-105268000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr7:105254000-105284600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr7:105256400-105277400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr7:105257600-105274400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr7:105258000-105269800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr7:105258800-105272200	Weak transcription	Small Intestine	intestine
28	chr7:105259200-105275400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr7:105260200-105275800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:105261800-105271400	Weak transcription	Left Ventricle	heart
31	chr7:105262000-105267400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
32	chr7:105262200-105279200	Weak transcription	Fetal Heart	heart
33	chr7:105262400-105277600	Weak transcription	Osteobl	bone
34	chr7:105262600-105267000	Strong transcription	Placenta	Placenta
35	chr7:105262600-105277400	Weak transcription	Brain Angular Gyrus	brain
36	chr7:105262800-105277200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr7:105263000-105274200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr7:105263200-105267800	Strong transcription	Fetal Muscle Trunk	muscle
39	chr7:105263200-105272000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr7:105263400-105273400	Weak transcription	Fetal Brain Male	brain
41	chr7:105263600-105267200	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr7:105263800-105267200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr7:105264000-105282600	Weak transcription	Colonic Mucosa	Colon
44	chr7:105264600-105270600	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr7:105264600-105273600	Weak transcription	Brain Germinal Matrix	brain
46	chr7:105264600-105274400	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr7:105264600-105277000	Weak transcription	HepG2	liver
48	chr7:105264600-105278000	Weak transcription	NHLF	lung
49	chr7:105264600-105279200	Weak transcription	Brain Cingulate Gyrus	brain
50	chr7:105264800-105271600	Weak transcription	Colon Smooth Muscle	Colon

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