Variant report

Variant	rs28744493
Chromosome Location	chr14:63979121-63979122
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	POLR2A	chr14:63978547-63979186	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:63970368..63973107-chr14:63976756..63979784,4	MCF-7	breast:
2	chr14:63974026..63976244-chr14:63977485..63979452,2	MCF-7	breast:

Variant related genes	Relation type
PPP2R5E	TF binding region
ENSG00000154001	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10129182	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10135999	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10220496	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11158494	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1255724	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1255728	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1255729	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1255732	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1255734	1.00[ASN][1000 genomes]
rs1255736	1.00[ASN][1000 genomes]
rs1255744	1.00[ASN][1000 genomes]
rs1255745	1.00[ASN][1000 genomes]
rs1255747	1.00[ASN][1000 genomes]
rs1255754	0.96[EUR][1000 genomes]
rs1255780	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1255783	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1255784	0.94[EUR][1000 genomes]
rs17101259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28420069	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28607114	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28708979	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61983965	1.00[ASN][1000 genomes]
rs61995015	1.00[ASN][1000 genomes]
rs6573515	1.00[ASN][1000 genomes]
rs7141832	1.00[ASN][1000 genomes]
rs7150291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7150490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7156664	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7158658	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73278655	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74056132	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74056138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74056139	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74056141	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8003274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8005767	1.00[ASN][1000 genomes]
rs8009130	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8017413	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8021183	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs964955	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527251	chr14:63400786-64068806	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv530774	chr14:63591348-64029881	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	nsv976815	chr14:63978344-63982055	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63951000-64003200	Weak transcription	Ovary	ovary
2	chr14:63960000-63983400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr14:63960000-64005000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr14:63960200-63983200	Weak transcription	NH-A	brain
5	chr14:63960200-64008600	Weak transcription	HSMMtube	muscle
6	chr14:63960400-63980200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr14:63960400-63980600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr14:63960400-63991000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:63960600-63979800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr14:63960600-63987000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr14:63962800-63990600	Weak transcription	Right Ventricle	heart
12	chr14:63963200-63980400	Weak transcription	Psoas Muscle	Psoas
13	chr14:63964000-63990400	Weak transcription	Fetal Kidney	kidney
14	chr14:63964200-63981000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr14:63965600-63979800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr14:63965600-63980600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr14:63966000-63980000	Weak transcription	Fetal Lung	lung
18	chr14:63966600-63983200	Weak transcription	Adipose Nuclei	Adipose
19	chr14:63966800-63983200	Weak transcription	Osteobl	bone
20	chr14:63967600-63986600	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr14:63967600-63996400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr14:63968600-63980600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr14:63969200-63983200	Weak transcription	Left Ventricle	heart
24	chr14:63969200-63984800	Weak transcription	Lung	lung
25	chr14:63969200-63991200	Weak transcription	Right Atrium	heart
26	chr14:63970200-64008600	Weak transcription	Aorta	Aorta
27	chr14:63970400-63980400	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr14:63970600-63980800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr14:63970800-63979800	Weak transcription	Brain Hippocampus Middle	brain
30	chr14:63970800-63990600	Weak transcription	Brain Anterior Caudate	brain
31	chr14:63971200-64000800	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr14:63972000-64000200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr14:63972200-64003400	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr14:63972400-63983200	Weak transcription	Hela-S3	cervix
35	chr14:63972400-64002800	Weak transcription	HMEC	breast
36	chr14:63972600-63987000	Weak transcription	NHEK	skin
37	chr14:63972600-64008800	Weak transcription	Esophagus	oesophagus
38	chr14:63972800-63983000	Weak transcription	A549	lung
39	chr14:63972800-63983200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr14:63974000-63987000	Weak transcription	Liver	Liver
41	chr14:63974000-63989200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr14:63974000-63990600	Weak transcription	Duodenum Mucosa	Duodenum
43	chr14:63974200-63980200	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr14:63974800-64007800	Weak transcription	Fetal Brain Male	brain
45	chr14:63975000-63983200	Weak transcription	Spleen	Spleen
46	chr14:63975000-63990600	Weak transcription	Brain Angular Gyrus	brain
47	chr14:63975000-63991200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr14:63975000-64008800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr14:63975200-63980400	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr14:63975200-63980600	Weak transcription	Gastric	stomach

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