Variant report

Variant	rs2291829
Chromosome Location	chr1:214553567-214553568
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	EP300	chr1:214553551-214554315	ECC-1	luminal epithelium:	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: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10735513	0.96[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11120308	0.86[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11120309	0.86[CEU][hapmap];0.87[CHB][hapmap];0.81[EUR][1000 genomes]
rs1135352	0.92[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap];0.96[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11587662	0.83[AMR][1000 genomes]
rs12137369	0.81[ASN][1000 genomes]
rs1472439	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1472443	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2936014	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2936015	0.97[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2936016	0.97[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2936017	0.92[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2936018	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3002297	0.86[CHB][hapmap];0.82[JPT][hapmap];0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3002298	0.93[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3002299	0.97[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3002300	0.92[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap];0.97[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3002301	0.96[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3002303	0.92[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap];0.95[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3002305	0.96[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3002306	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3002307	0.92[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap];0.96[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3002308	0.96[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3002309	0.93[CEU][hapmap];0.96[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3002312	0.96[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3013442	0.92[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3013446	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3013448	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3013451	1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3013452	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3013455	0.97[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4129186	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs4311855	0.86[CEU][hapmap];0.82[CHB][hapmap];0.87[JPT][hapmap];0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4578186	0.81[CHB][hapmap];0.81[EUR][1000 genomes]
rs4655248	0.93[ASN][1000 genomes]
rs4655342	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6657368	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6670349	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7413877	0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7513473	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7513565	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7524206	0.81[CHB][hapmap]
rs7530350	0.86[CEU][hapmap];0.87[CHB][hapmap];0.87[JPT][hapmap];0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7550799	0.92[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[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	chr1:214545400-214554600	Weak transcription	A549	lung
25	chr1:214546200-214553800	Weak transcription	Ovary	ovary
26	chr1:214546200-214556200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr1:214546200-214556400	Weak transcription	Right Ventricle	heart
28	chr1:214546200-214576000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr1:214546200-214576200	Weak transcription	Right Atrium	heart
30	chr1:214546400-214556000	Weak transcription	Hela-S3	cervix
31	chr1:214546400-214556400	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr1:214547800-214576200	Weak transcription	Fetal Heart	heart
33	chr1:214548400-214553600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr1:214548800-214556200	Weak transcription	Fetal Lung	lung
35	chr1:214549000-214560800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr1:214549200-214553800	Genic enhancers	NH-A	brain
37	chr1:214549200-214554800	Genic enhancers	HMEC	breast
38	chr1:214549400-214561400	Strong transcription	Fetal Stomach	stomach
39	chr1:214549800-214555800	Weak transcription	Lung	lung
40	chr1:214550400-214554400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr1:214550800-214560400	Strong transcription	Fetal Muscle Trunk	muscle
42	chr1:214551000-214553600	Enhancers	Placenta	Placenta
43	chr1:214551000-214554000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr1:214551000-214554000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:214551000-214554600	Genic enhancers	Osteobl	bone
46	chr1:214551000-214555200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:214551000-214555200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr1:214551000-214556000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr1:214551000-214558800	Strong transcription	Fetal Muscle Leg	muscle
50	chr1:214551400-214555200	Weak transcription	Fetal Kidney	kidney

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