Variant report

Variant	rs341275
Chromosome Location	chr5:106885063-106885064
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs341273	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs342602	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs342605	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs342606	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs352603	0.84[YRI][hapmap];0.85[EUR][1000 genomes]
rs352604	0.87[EUR][1000 genomes]
rs352606	0.94[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs352607	0.94[CEU][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs352610	0.93[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs457369	0.87[EUR][1000 genomes]
rs849520	1.00[CEU][hapmap];0.97[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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106875000-106885200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:106878800-106891600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:106879000-106893000	Weak transcription	Psoas Muscle	Psoas
4	chr5:106879000-106899200	Weak transcription	Fetal Stomach	stomach
5	chr5:106879400-106888200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:106879400-106888800	Weak transcription	HMEC	breast
7	chr5:106879600-106888000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr5:106879800-106887800	Weak transcription	NHLF	lung
9	chr5:106879800-106888800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:106880000-106885200	Weak transcription	Esophagus	oesophagus
11	chr5:106880200-106885200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr5:106880200-106889000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr5:106880400-106885200	Weak transcription	Aorta	Aorta
14	chr5:106880400-106885400	Weak transcription	Pancreas	Pancrea
15	chr5:106880600-106886800	Weak transcription	Right Ventricle	heart
16	chr5:106881400-106885200	Weak transcription	Right Atrium	heart
17	chr5:106881400-106888600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:106881400-106889000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr5:106881600-106899600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr5:106882200-106885200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr5:106882200-106885200	Weak transcription	Left Ventricle	heart
22	chr5:106882600-106885800	Enhancers	A549	lung
23	chr5:106882800-106885200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:106883000-106885400	Weak transcription	Brain Angular Gyrus	brain
25	chr5:106883000-106888600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr5:106883200-106886800	Weak transcription	Fetal Lung	lung
27	chr5:106883400-106890000	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr5:106883800-106890200	Weak transcription	Fetal Kidney	kidney
29	chr5:106884200-106885200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr5:106884400-106885200	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr5:106884400-106885200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr5:106884400-106885200	Enhancers	HSMMtube	muscle
33	chr5:106884400-106885200	Enhancers	NHDF-Ad	bronchial
34	chr5:106884400-106885600	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr5:106884400-106885600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr5:106884600-106885200	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr5:106884600-106885200	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr5:106884600-106885200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr5:106884600-106885400	Weak transcription	HSMM	muscle
40	chr5:106884600-106885600	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr5:106884600-106885600	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr5:106884600-106885600	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr5:106884600-106896400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr5:106884800-106885400	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr5:106884800-106885600	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr5:106884800-106885600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr5:106884800-106889600	Enhancers	Fetal Heart	heart
48	chr5:106885000-106885200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr5:106885000-106885600	Enhancers	H1 Cell Line	embryonic stem cell

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