Variant report

Variant	rs3013452
Chromosome Location	chr1:214550800-214550801
allele	C/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	EP300	chr1:214550209-214550859	T-47D	breast:	n/a	n/a
2	FOXA1	chr1:214550356-214550842	T-47D	breast:	n/a	n/a
3	SPI1	chr1:214550768-214551273	HL-60	blood:	n/a	n/a

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: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10735513	0.96[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11120308	0.81[AMR][1000 genomes]
rs1135352	0.99[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11587662	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12137369	0.88[ASN][1000 genomes]
rs1472439	0.99[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1472443	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2291829	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2936014	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2936015	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2936016	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2936017	0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2936018	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3002297	0.94[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3002298	0.96[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3002299	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3002300	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3002301	0.99[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3002303	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3002305	0.99[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3002306	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3002307	0.99[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3002308	0.99[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3002309	0.99[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3002312	0.99[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3013442	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3013446	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3013448	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3013451	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3013455	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4311855	0.81[AMR][1000 genomes]
rs4655248	0.83[ASN][1000 genomes]
rs4655342	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6657368	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6670349	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7413877	0.96[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7530350	0.81[AMR][1000 genomes]
rs7550799	0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]

No data

Chromatin state (count:94 , 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	chr1:214536200-214551000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:214537600-214577000	Weak transcription	Stomach Mucosa	stomach
15	chr1:214538000-214556200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr1:214538000-214556400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr1:214538000-214559400	Weak transcription	Small Intestine	intestine
18	chr1:214538200-214556600	Weak transcription	Pancreas	Pancrea
19	chr1:214538800-214556400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:214539600-214561600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:214539800-214551000	Strong transcription	NHDF-Ad	bronchial
22	chr1:214540400-214552000	Strong transcription	HUVEC	blood vessel
23	chr1:214541200-214552200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr1:214541600-214566600	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr1:214542000-214556200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr1:214542200-214551000	Strong transcription	HSMM	muscle
27	chr1:214543200-214556400	Weak transcription	HepG2	liver
28	chr1:214543600-214561600	Weak transcription	Colonic Mucosa	Colon
29	chr1:214544200-214556000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:214545000-214556600	Weak transcription	Gastric	stomach
31	chr1:214545000-214559400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:214545200-214551000	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr1:214545200-214556600	Weak transcription	Esophagus	oesophagus
34	chr1:214545400-214554600	Weak transcription	A549	lung
35	chr1:214545600-214552600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:214545800-214551400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:214546200-214551000	Weak transcription	NHLF	lung
38	chr1:214546200-214552000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr1:214546200-214553800	Weak transcription	Ovary	ovary
40	chr1:214546200-214556200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr1:214546200-214556400	Weak transcription	Right Ventricle	heart
42	chr1:214546200-214576000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr1:214546200-214576200	Weak transcription	Right Atrium	heart
44	chr1:214546400-214551000	Strong transcription	Osteobl	bone
45	chr1:214546400-214556000	Weak transcription	Hela-S3	cervix
46	chr1:214546400-214556400	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr1:214546800-214552000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr1:214546800-214552000	Weak transcription	Fetal Intestine Small	intestine
49	chr1:214546800-214552000	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr1:214547000-214551000	Strong transcription	Muscle Satellite Cultured Cells	--

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