Variant report

Variant	rs72757965
Chromosome Location	chr1:214554745-214554746
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	GATA3	chr1:214554610-214555084	T-47D	breast:	n/a	n/a
2	GATA3	chr1:214554691-214555108	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:214553139..214554826-chr1:214593747..214596716,2	K562	blood:
2	chr1:214549816..214551972-chr1:214553224..214555722,2	MCF-7	breast:

Variant related genes	Relation type
PTPN14	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17730755	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17731174	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17786841	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17786949	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61821383	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72757948	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72757949	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72757957	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72757966	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214519000-214557800	Weak transcription	Dnd41	blood
2	chr1:214519200-214577200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:214524400-214574400	Weak transcription	Brain Hippocampus Middle	brain
4	chr1:214528600-214555800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:214529000-214584200	Weak transcription	Brain Anterior Caudate	brain
6	chr1:214529400-214561800	Weak transcription	Brain Angular Gyrus	brain
7	chr1:214531600-214556800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:214534000-214557000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:214537600-214577000	Weak transcription	Stomach Mucosa	stomach
10	chr1:214538000-214556200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr1:214538000-214556400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr1:214538000-214559400	Weak transcription	Small Intestine	intestine
13	chr1:214538200-214556600	Weak transcription	Pancreas	Pancrea
14	chr1:214538800-214556400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:214539600-214561600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:214541600-214566600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr1:214542000-214556200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr1:214543200-214556400	Weak transcription	HepG2	liver
19	chr1:214543600-214561600	Weak transcription	Colonic Mucosa	Colon
20	chr1:214544200-214556000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:214545000-214556600	Weak transcription	Gastric	stomach
22	chr1:214545000-214559400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:214545200-214556600	Weak transcription	Esophagus	oesophagus
24	chr1:214546200-214556200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr1:214546200-214556400	Weak transcription	Right Ventricle	heart
26	chr1:214546200-214576000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr1:214546200-214576200	Weak transcription	Right Atrium	heart
28	chr1:214546400-214556000	Weak transcription	Hela-S3	cervix
29	chr1:214546400-214556400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr1:214547800-214576200	Weak transcription	Fetal Heart	heart
31	chr1:214548800-214556200	Weak transcription	Fetal Lung	lung
32	chr1:214549000-214560800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr1:214549200-214554800	Genic enhancers	HMEC	breast
34	chr1:214549400-214561400	Strong transcription	Fetal Stomach	stomach
35	chr1:214549800-214555800	Weak transcription	Lung	lung
36	chr1:214550800-214560400	Strong transcription	Fetal Muscle Trunk	muscle
37	chr1:214551000-214555200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:214551000-214555200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:214551000-214556000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr1:214551000-214558800	Strong transcription	Fetal Muscle Leg	muscle
41	chr1:214551400-214555200	Weak transcription	Fetal Kidney	kidney
42	chr1:214551400-214558400	Strong transcription	Fetal Intestine Large	intestine
43	chr1:214552000-214555200	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr1:214552000-214555200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr1:214552000-214555200	Genic enhancers	NHEK	skin
46	chr1:214552000-214559800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:214552200-214559800	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr1:214552400-214555000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:214552400-214555600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr1:214552400-214556200	Weak transcription	NHLF	lung

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