Variant report

Variant	rs62345875
Chromosome Location	chr5:14493880-14493881
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	chr5:14490205-14494849	U87	brain:	n/a	n/a
2	POLR2A	chr5:14493877-14494282	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr5:14490360-14494849	U87	brain:	n/a	n/a
4	POLR2A	chr5:14493658-14494097	PANC-1	pancreas:	n/a	n/a
5	POLR2A	chr5:14487862-14495826	U87	brain:	n/a	n/a
6	POLR2A	chr5:14493489-14494072	PANC-1	pancreas:	n/a	n/a
7	POLR2A	chr5:14487856-14495832	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14486470..14488877-chr5:14492147..14494688,2	K562	blood:
2	chr5:14488265..14491404-chr5:14492862..14495182,4	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]
rs62345872	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]
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	chr5:14458800-14509000	Strong transcription	Liver	Liver
5	chr5:14458800-14510600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:14459400-14508800	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr5:14459400-14509000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr5:14464800-14511400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr5:14465200-14494400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr5:14468200-14509000	Strong transcription	Ovary	ovary
11	chr5:14468400-14511000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:14470600-14509000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:14470600-14509800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr5:14470800-14502800	Strong transcription	HSMMtube	muscle
15	chr5:14471200-14509000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:14473600-14501600	Weak transcription	Fetal Heart	heart
17	chr5:14474000-14494000	Strong transcription	Brain Germinal Matrix	brain
18	chr5:14476600-14511200	Strong transcription	Fetal Intestine Small	intestine
19	chr5:14476800-14509000	Strong transcription	Duodenum Smooth Muscle	Duodenum
20	chr5:14477400-14511400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr5:14477800-14494800	Strong transcription	Lung	lung
22	chr5:14477800-14504800	Strong transcription	HMEC	breast
23	chr5:14478200-14509400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr5:14481000-14494800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr5:14482400-14509800	Weak transcription	Psoas Muscle	Psoas
26	chr5:14483800-14500200	Weak transcription	Stomach Mucosa	stomach
27	chr5:14485200-14494000	Strong transcription	Gastric	stomach
28	chr5:14485200-14494200	Strong transcription	Right Ventricle	heart
29	chr5:14485200-14494600	Strong transcription	Rectal Smooth Muscle	rectum
30	chr5:14485800-14509600	Weak transcription	Small Intestine	intestine
31	chr5:14487400-14510000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr5:14488200-14494000	Strong transcription	Hela-S3	cervix
33	chr5:14488200-14503800	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr5:14488200-14508800	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr5:14488200-14509000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr5:14488400-14499600	Strong transcription	Fetal Kidney	kidney
37	chr5:14488400-14500800	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr5:14488600-14496000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr5:14488600-14501400	Strong transcription	HSMM	muscle
40	chr5:14488600-14510000	Strong transcription	Fetal Intestine Large	intestine
41	chr5:14488800-14495400	Strong transcription	Brain Cingulate Gyrus	brain
42	chr5:14488800-14499600	Strong transcription	HUVEC	blood vessel
43	chr5:14488800-14508000	Strong transcription	GM12878-XiMat	blood
44	chr5:14489000-14494000	Strong transcription	H9 Cell Line	embryonic stem cell
45	chr5:14489400-14498600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr5:14489600-14494000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr5:14489600-14495600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr5:14489800-14499600	Strong transcription	NHEK	skin
49	chr5:14489800-14509000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr5:14490000-14501600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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