Variant report

Variant	rs62337523
Chromosome Location	chr4:144301947-144301948
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	ARID3A	chr4:144301827-144302074	HepG2	liver:	n/a	n/a
2	FOXA1	chr4:144301721-144302124	HepG2	liver:	n/a	n/a
3	RCOR1	chr4:144301722-144303436	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:144292852..144297100-chr4:144298409..144302941,5	K562	blood:

Variant related genes	Relation type
GAB1	TF binding region

rs_ID	r²[population]
rs28989210	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62337484	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs62337514	1.00[AFR][1000 genomes]
rs62337521	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62337524	1.00[AFR][1000 genomes]

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:144283000-144302200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr4:144291800-144302200	Weak transcription	Esophagus	oesophagus
3	chr4:144293200-144302400	Enhancers	Brain Substantia Nigra	brain
4	chr4:144293600-144302000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr4:144294000-144302200	Weak transcription	Spleen	Spleen
6	chr4:144294000-144302400	Weak transcription	Gastric	stomach
7	chr4:144295000-144302800	Enhancers	Brain Cingulate Gyrus	brain
8	chr4:144295200-144302400	Enhancers	Brain Anterior Caudate	brain
9	chr4:144295400-144302000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:144295600-144302400	Enhancers	Rectal Smooth Muscle	rectum
11	chr4:144295600-144303000	Enhancers	Brain Angular Gyrus	brain
12	chr4:144296000-144302200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr4:144296200-144302400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:144296800-144304600	Enhancers	Liver	Liver
15	chr4:144297000-144302200	Weak transcription	Stomach Mucosa	stomach
16	chr4:144297000-144302600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr4:144297200-144302000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr4:144297200-144302200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr4:144297200-144302200	Weak transcription	HMEC	breast
20	chr4:144297200-144302400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr4:144297200-144302400	Enhancers	Brain Hippocampus Middle	brain
22	chr4:144297200-144302400	Weak transcription	Fetal Thymus	thymus
23	chr4:144297200-144305600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr4:144297400-144302200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr4:144297400-144302400	Weak transcription	Brain Germinal Matrix	brain
26	chr4:144298000-144303600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr4:144298000-144305800	Enhancers	Fetal Stomach	stomach
28	chr4:144298200-144302000	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr4:144298600-144303200	Enhancers	Fetal Muscle Leg	muscle
30	chr4:144299000-144303400	Enhancers	HepG2	liver
31	chr4:144299000-144304600	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr4:144299400-144302200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr4:144299400-144303000	Weak transcription	Primary hematopoietic stem cells	blood
34	chr4:144299400-144303400	Enhancers	H1 Cell Line	embryonic stem cell
35	chr4:144299600-144302000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr4:144299600-144303000	Enhancers	Primary B cells from cord blood	blood
37	chr4:144299600-144303800	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr4:144299800-144302000	Weak transcription	NHLF	lung
39	chr4:144299800-144302600	Enhancers	Fetal Heart	heart
40	chr4:144300000-144302000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr4:144300000-144302200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr4:144300200-144302200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr4:144300200-144302200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr4:144300200-144302200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr4:144300200-144302200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr4:144300200-144302200	Weak transcription	Osteobl	bone
47	chr4:144300200-144302400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr4:144300200-144302400	Weak transcription	Placenta	Placenta
49	chr4:144300200-144302400	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr4:144300200-144302400	Enhancers	Stomach Smooth Muscle	stomach

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