Variant report

Variant	rs458393
Chromosome Location	chr5:106863806-106863807
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs149155	0.91[CEU][hapmap];0.86[EUR][1000 genomes]
rs163614	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs163889	0.91[CEU][hapmap];0.86[EUR][1000 genomes]
rs163890	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs163891	0.91[CEU][hapmap]
rs163893	0.89[CEU][hapmap]
rs341276	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs341277	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs341278	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs462885	0.88[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs464250	1.00[CEU][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs698372	0.81[AMR][1000 genomes]
rs848829	1.00[CEU][hapmap];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034276	chr5:106461538-106944163	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv537851	chr5:106461538-106944163	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	esv34018	chr5:106720912-107110506	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106842400-106880000	Weak transcription	Gastric	stomach
2	chr5:106848800-106865000	Weak transcription	Right Atrium	heart
3	chr5:106856000-106865000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:106856000-106868600	Weak transcription	Right Ventricle	heart
5	chr5:106856400-106865000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:106856600-106865000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr5:106856600-106865000	Weak transcription	Aorta	Aorta
8	chr5:106857400-106868000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:106857800-106867200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:106859400-106865000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:106859600-106865000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr5:106859600-106873600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr5:106860000-106864800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr5:106860000-106865000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr5:106860200-106865000	Weak transcription	Left Ventricle	heart
16	chr5:106860400-106864800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr5:106860600-106865200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr5:106860600-106867000	Weak transcription	Fetal Kidney	kidney
19	chr5:106860600-106874600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr5:106860800-106864600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr5:106861600-106864200	Enhancers	A549	lung
22	chr5:106862200-106865200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr5:106862200-106867200	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr5:106862400-106864800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr5:106862400-106865000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr5:106862400-106865000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr5:106862400-106865400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr5:106862400-106868000	Weak transcription	HSMMtube	muscle
29	chr5:106862400-106873800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr5:106862800-106867800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr5:106862800-106868000	Weak transcription	HSMM	muscle
32	chr5:106863200-106864200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr5:106863400-106865000	Weak transcription	Fetal Heart	heart
34	chr5:106863600-106864200	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr5:106863600-106865200	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr5:106863800-106864000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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