Variant report

Variant	rs73074045
Chromosome Location	chr1:214551526-214551527
allele	C/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	GATA3	chr1:214551244-214551911	SK-N-SH	brain:	n/a	chr1:214551270-214551279
2	GATA3	chr1:214551355-214551664	MCF-7	breast:	n/a	n/a
3	NFIC	chr1:214551168-214551800	SK-N-SH	brain:	n/a	n/a
4	FOXA1	chr1:214551167-214552100	T-47D	breast:	n/a	n/a
5	RAD21	chr1:214551247-214551725	IMR90	lung:	n/a	n/a
6	ESR1	chr1:214551294-214551719	T-47D	breast:	n/a	n/a
7	MAFK	chr1:214551255-214551594	IMR90	lung:	n/a	n/a
8	ESR1	chr1:214551268-214551908	T-47D	breast:	n/a	n/a
9	MAX	chr1:214551231-214551626	MCF-7	breast:	n/a	chr1:214551271-214551280
10	TEAD4	chr1:214551269-214551784	SK-N-SH	brain:	n/a	chr1:214551496-214551505
11	GATA3	chr1:214551235-214551813	SK-N-SH	brain:	n/a	chr1:214551270-214551279
12	JUND	chr1:214550914-214552225	T-47D	breast:	n/a	chr1:214551268-214551279 chr1:214551272-214551281
13	CEBPB	chr1:214551343-214551621	IMR90	lung:	n/a	n/a
14	ESR1	chr1:214551265-214551734	T-47D	breast:	n/a	n/a
15	JUND	chr1:214551184-214551904	T-47D	breast:	n/a	chr1:214551268-214551279 chr1:214551272-214551281
16	FOXA1	chr1:214551179-214552051	T-47D	breast:	n/a	n/a
17	EP300	chr1:214551196-214551700	T-47D	breast:	n/a	chr1:214551271-214551280
18	GATA3	chr1:214550911-214552177	T-47D	breast:	n/a	chr1:214551270-214551279
19	ESR1	chr1:214551347-214551766	T-47D	breast:	n/a	n/a
20	GATA3	chr1:214550902-214552197	T-47D	breast:	n/a	chr1:214551270-214551279
21	EP300	chr1:214550898-214552286	T-47D	breast:	n/a	chr1:214552014-214552021 chr1:214551271-214551280 chr1:214551790-214551804
22	GATA3	chr1:214551163-214551914	MCF-7	breast:	n/a	chr1:214551270-214551279

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:214549816..214551972-chr1:214553224..214555722,2	MCF-7	breast:

Variant related genes	Relation type
PTPN14	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs56738377	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57604915	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59502807	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60187136	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60331477	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61650888	1.00[ASN][1000 genomes]
rs73074007	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73074012	0.81[EUR][1000 genomes]
rs73074017	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73074020	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73074025	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73074041	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73074052	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73074055	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73074084	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73092357	1.00[ASN][1000 genomes]
rs73092358	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	chr1:214513600-214552200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:214519000-214557800	Weak transcription	Dnd41	blood
3	chr1:214519200-214577200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr1:214522800-214552800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:214524400-214574400	Weak transcription	Brain Hippocampus Middle	brain
6	chr1:214528600-214552800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr1:214528600-214555800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:214528800-214551800	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr1:214529000-214584200	Weak transcription	Brain Anterior Caudate	brain
10	chr1:214529400-214561800	Weak transcription	Brain Angular Gyrus	brain
11	chr1:214531600-214556800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:214534000-214557000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr1:214537600-214577000	Weak transcription	Stomach Mucosa	stomach
14	chr1:214538000-214556200	Weak transcription	Duodenum Mucosa	Duodenum
15	chr1:214538000-214556400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr1:214538000-214559400	Weak transcription	Small Intestine	intestine
17	chr1:214538200-214556600	Weak transcription	Pancreas	Pancrea
18	chr1:214538800-214556400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:214539600-214561600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:214540400-214552000	Strong transcription	HUVEC	blood vessel
21	chr1:214541200-214552200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr1:214541600-214566600	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr1:214542000-214556200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr1:214543200-214556400	Weak transcription	HepG2	liver
25	chr1:214543600-214561600	Weak transcription	Colonic Mucosa	Colon
26	chr1:214544200-214556000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:214545000-214556600	Weak transcription	Gastric	stomach
28	chr1:214545000-214559400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:214545200-214556600	Weak transcription	Esophagus	oesophagus
30	chr1:214545400-214554600	Weak transcription	A549	lung
31	chr1:214545600-214552600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:214546200-214552000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:214546200-214553800	Weak transcription	Ovary	ovary
34	chr1:214546200-214556200	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr1:214546200-214556400	Weak transcription	Right Ventricle	heart
36	chr1:214546200-214576000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr1:214546200-214576200	Weak transcription	Right Atrium	heart
38	chr1:214546400-214556000	Weak transcription	Hela-S3	cervix
39	chr1:214546400-214556400	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr1:214546800-214552000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr1:214546800-214552000	Weak transcription	Fetal Intestine Small	intestine
42	chr1:214546800-214552000	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr1:214547200-214552400	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr1:214547800-214576200	Weak transcription	Fetal Heart	heart
45	chr1:214548000-214552000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr1:214548000-214553400	Weak transcription	Colon Smooth Muscle	Colon
47	chr1:214548200-214552800	Weak transcription	Psoas Muscle	Psoas
48	chr1:214548400-214553600	Weak transcription	Rectal Smooth Muscle	rectum
49	chr1:214548800-214553400	Strong transcription	Adipose Nuclei	Adipose
50	chr1:214548800-214556200	Weak transcription	Fetal Lung	lung

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