Variant report

Variant	rs59213791
Chromosome Location	chr14:64956316-64956317
allele	-/AT
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:64955531..64957276-chr14:64970390..64972716,2	K562	blood:
2	chr14:64954248..64956341-chr14:64968614..64970888,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000126804	Chromatin interaction
ENSG00000089775	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10131155	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10132424	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10132969	0.83[AFR][1000 genomes]
rs10133243	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10133411	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10133696	0.95[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs10134530	0.83[AFR][1000 genomes]
rs10136732	0.87[AFR][1000 genomes]
rs10138256	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10142835	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10142879	0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs10143170	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10143839	0.83[AFR][1000 genomes]
rs10145013	0.83[AFR][1000 genomes]
rs10149286	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10150781	0.83[AFR][1000 genomes]
rs10873173	0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs11158543	0.82[ASN][1000 genomes]
rs11158544	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11623457	0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs11625265	0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs11626222	0.83[AFR][1000 genomes]
rs11628221	0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs11847054	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11848179	0.87[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs11849935	0.83[AFR][1000 genomes]
rs11851236	0.82[ASN][1000 genomes]
rs12050238	0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs12050358	0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs12385910	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12385918	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12586212	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12588886	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12589947	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1453004	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1453007	0.87[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs1453009	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1470851	0.87[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs17101896	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1966865	0.87[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs1980519	0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs1980520	0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs1982440	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2123459	0.83[AFR][1000 genomes]
rs2123460	0.83[AFR][1000 genomes]
rs2198347	0.95[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2281603	0.95[AFR][1000 genomes]
rs28446048	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28469649	0.87[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs28626711	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28666045	0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs28730549	0.82[ASN][1000 genomes]
rs28738919	0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs35115595	0.83[AFR][1000 genomes]
rs35451957	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3783722	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3783723	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3783724	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3783726	0.85[EUR][1000 genomes]
rs45618332	0.82[EUR][1000 genomes]
rs4632045	0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs57525201	0.83[AFR][1000 genomes]
rs58893738	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59440409	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59512674	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59577187	0.83[AFR][1000 genomes]
rs60908674	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61615397	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61985663	0.83[AFR][1000 genomes]
rs61985668	0.91[ASN][1000 genomes]
rs61985706	0.87[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs61985707	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61985711	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73265639	0.83[AFR][1000 genomes]
rs73265641	0.83[AFR][1000 genomes]
rs73267743	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73267744	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs926803	0.82[ASN][1000 genomes]
rs9323452	0.87[AFR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv902022	chr14:64926581-64958638	Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64933200-64968400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:64933400-64968200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr14:64936800-64968400	Weak transcription	Fetal Brain Male	brain
4	chr14:64945000-64958200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr14:64945400-64957400	Weak transcription	Fetal Heart	heart
6	chr14:64949000-64958400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr14:64949600-64958800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr14:64950000-64968200	Weak transcription	Colonic Mucosa	Colon
9	chr14:64950400-64957200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr14:64950400-64958800	Strong transcription	Dnd41	blood
11	chr14:64950400-64963000	Strong transcription	Fetal Thymus	thymus
12	chr14:64950600-64967800	Weak transcription	HUVEC	blood vessel
13	chr14:64950800-64958400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr14:64951000-64958600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:64951000-64958600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr14:64951200-64957200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr14:64951200-64957800	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr14:64951600-64956600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr14:64951600-64956800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr14:64951600-64958600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr14:64951600-64958600	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr14:64951800-64958000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr14:64951800-64958400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr14:64951800-64958800	Strong transcription	Fetal Muscle Trunk	muscle
25	chr14:64952000-64957600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr14:64952200-64968000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr14:64952600-64958600	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr14:64953000-64960200	Weak transcription	K562	blood
29	chr14:64953200-64958000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr14:64953200-64958400	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr14:64953200-64968200	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr14:64953400-64956400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr14:64953600-64956400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr14:64953600-64956400	Strong transcription	HSMM	muscle
35	chr14:64953600-64956400	Strong transcription	NHEK	skin
36	chr14:64953600-64956600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr14:64953600-64956800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr14:64953600-64956800	Strong transcription	Fetal Intestine Large	intestine
39	chr14:64953600-64957000	Strong transcription	Adipose Nuclei	Adipose
40	chr14:64953600-64957000	Strong transcription	Fetal Muscle Leg	muscle
41	chr14:64953600-64957400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr14:64953600-64957800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr14:64953600-64958600	Strong transcription	Primary B cells from cord blood	blood
44	chr14:64953600-64958600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr14:64953600-64958800	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr14:64953600-64959200	Strong transcription	Fetal Stomach	stomach
47	chr14:64953600-64959600	Strong transcription	Primary T cells from cord blood	blood
48	chr14:64953600-64959800	Strong transcription	GM12878-XiMat	blood
49	chr14:64953800-64957200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr14:64954000-64959200	Strong transcription	Fetal Intestine Small	intestine

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