Variant report

Variant	rs62345872
Chromosome Location	chr5:14489916-14489917
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	chr5:14487862-14495826	U87	brain:	n/a	n/a
2	POLR2A	chr5:14489556-14490232	SK-N-SH	brain:	n/a	n/a
3	NR2F2	chr5:14489687-14490261	MCF-7	breast:	n/a	n/a
4	POLR2A	chr5:14489379-14490055	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr5:14489888-14489967	GM12878	blood:	n/a	n/a
6	MAX	chr5:14489656-14490318	MCF-7	breast:	n/a	chr5:14489905-14489912 chr5:14489902-14489913 chr5:14489898-14489917 chr5:14489903-14489912
7	POLR2A	chr5:14488528-14490204	U87	brain:	n/a	n/a
8	MAX	chr5:14489760-14490057	K562	blood:	n/a	chr5:14489905-14489912 chr5:14489902-14489913 chr5:14489898-14489917 chr5:14489903-14489912
9	POLR2A	chr5:14487856-14495832	U87	brain:	n/a	n/a
10	POLR2A	chr5:14489389-14490058	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14487313..14490052-chr5:14496732..14498823,2	MCF-7	breast:

Variant related genes	Relation type
TRIO	TF binding region
ENSG00000038382	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10053327	0.84[EUR][1000 genomes]
rs17500731	0.80[EUR][1000 genomes]
rs17500808	0.91[EUR][1000 genomes]
rs3898746	0.89[EUR][1000 genomes]
rs62345057	0.87[EUR][1000 genomes]
rs62345058	0.87[EUR][1000 genomes]
rs62345059	0.87[EUR][1000 genomes]
rs62345860	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62345871	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62345873	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62345874	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62345875	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62345879	1.00[EUR][1000 genomes]
rs62345881	1.00[EUR][1000 genomes]
rs62345882	1.00[EUR][1000 genomes]
rs62345883	1.00[EUR][1000 genomes]
rs62345884	0.84[EUR][1000 genomes]
rs62345885	0.84[EUR][1000 genomes]
rs62345886	0.84[EUR][1000 genomes]
rs62345887	0.84[EUR][1000 genomes]
rs6863759	1.00[EUR][1000 genomes]
rs6891562	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv461981	chr5:14426611-14509903	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv597240	chr5:14426611-14509903	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv4725	chr5:14469602-14514446	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv830211	chr5:14474675-14675776	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14446800-14511400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:14450800-14509000	Strong transcription	Primary B cells from peripheral blood	blood
3	chr5:14458200-14509200	Strong transcription	Cortex derived primary cultured neurospheres	brain
4	chr5:14458400-14490000	Strong transcription	Adipose Nuclei	Adipose
5	chr5:14458600-14490400	Strong transcription	Fetal Stomach	stomach
6	chr5:14458800-14509000	Strong transcription	Liver	Liver
7	chr5:14458800-14510600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:14459400-14508800	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr5:14459400-14509000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr5:14460600-14490600	Strong transcription	Stomach Smooth Muscle	stomach
11	chr5:14464800-14511400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:14465200-14494400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:14468200-14509000	Strong transcription	Ovary	ovary
14	chr5:14468400-14511000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:14470600-14490600	Strong transcription	Duodenum Mucosa	Duodenum
16	chr5:14470600-14509000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr5:14470600-14509800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr5:14470800-14502800	Strong transcription	HSMMtube	muscle
19	chr5:14471200-14509000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:14471400-14490000	Strong transcription	Left Ventricle	heart
21	chr5:14472400-14490400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:14473600-14501600	Weak transcription	Fetal Heart	heart
23	chr5:14474000-14493800	Strong transcription	Fetal Brain Female	brain
24	chr5:14474000-14494000	Strong transcription	Brain Germinal Matrix	brain
25	chr5:14474400-14490600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr5:14476600-14511200	Strong transcription	Fetal Intestine Small	intestine
27	chr5:14476800-14509000	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr5:14477400-14490400	Strong transcription	NHDF-Ad	bronchial
29	chr5:14477400-14490400	Strong transcription	Osteobl	bone
30	chr5:14477400-14511400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr5:14477800-14494800	Strong transcription	Lung	lung
32	chr5:14477800-14504800	Strong transcription	HMEC	breast
33	chr5:14478000-14490600	Strong transcription	Muscle Satellite Cultured Cells	--
34	chr5:14478200-14509400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr5:14480000-14490000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr5:14480800-14492800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr5:14480800-14493400	Strong transcription	Brain Inferior Temporal Lobe	brain
38	chr5:14481000-14494800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr5:14482400-14509800	Weak transcription	Psoas Muscle	Psoas
40	chr5:14482800-14490000	Strong transcription	Spleen	Spleen
41	chr5:14483800-14500200	Weak transcription	Stomach Mucosa	stomach
42	chr5:14484000-14493200	Strong transcription	Colonic Mucosa	Colon
43	chr5:14484200-14490000	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr5:14484200-14490400	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr5:14484200-14491800	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr5:14485000-14491200	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr5:14485200-14493200	Strong transcription	Aorta	Aorta
48	chr5:14485200-14494000	Strong transcription	Gastric	stomach
49	chr5:14485200-14494200	Strong transcription	Right Ventricle	heart
50	chr5:14485200-14494600	Strong transcription	Rectal Smooth Muscle	rectum

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