Variant report

Variant	rs352609
Chromosome Location	chr5:106889160-106889161
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs163727	0.95[CHB][hapmap]
rs164699	0.81[CHB][hapmap]
rs2161514	0.91[CHB][hapmap]
rs2445074	0.95[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs2484103	0.82[CHB][hapmap]
rs341272	0.95[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs342603	0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs342604	0.87[CHB][hapmap]
rs41375	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs445747	0.83[CHB][hapmap]
rs459400	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs459637	0.87[CHB][hapmap]
rs464950	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs467089	0.88[CEU][hapmap];0.95[CHB][hapmap];0.88[JPT][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs553363	0.86[CHB][hapmap]
rs555989	0.86[CHB][hapmap]
rs662627	0.91[CHB][hapmap]
rs677797	0.86[CHB][hapmap];0.81[ASN][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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106878800-106891600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:106879000-106893000	Weak transcription	Psoas Muscle	Psoas
3	chr5:106879000-106899200	Weak transcription	Fetal Stomach	stomach
4	chr5:106881600-106899600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr5:106883400-106890000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr5:106883800-106890200	Weak transcription	Fetal Kidney	kidney
7	chr5:106884600-106896400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:106884800-106889600	Enhancers	Fetal Heart	heart
9	chr5:106885400-106892600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr5:106885600-106892800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr5:106885600-106893000	Weak transcription	Esophagus	oesophagus
12	chr5:106885600-106893200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr5:106885600-106894800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:106885600-106896400	Weak transcription	Right Atrium	heart
15	chr5:106887200-106889400	Enhancers	NHDF-Ad	bronchial
16	chr5:106887200-106890600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr5:106887200-106899400	Weak transcription	Fetal Lung	lung
18	chr5:106887200-106906800	Weak transcription	Right Ventricle	heart
19	chr5:106887400-106889200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr5:106887400-106890400	Weak transcription	Adipose Nuclei	Adipose
21	chr5:106887800-106889600	Enhancers	NHLF	lung
22	chr5:106887800-106889800	Enhancers	HSMM	muscle
23	chr5:106887800-106891600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:106888000-106889200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr5:106888000-106890800	Enhancers	Muscle Satellite Cultured Cells	--
26	chr5:106888400-106889200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr5:106888400-106889200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr5:106888600-106889200	Enhancers	Placenta Amnion	Placenta Amnion
29	chr5:106888600-106889400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:106888600-106889400	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr5:106888600-106889400	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr5:106888600-106889400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr5:106888600-106889400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr5:106888800-106889200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr5:106888800-106889200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr5:106888800-106889200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr5:106888800-106889200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr5:106888800-106889200	Enhancers	Left Ventricle	heart
39	chr5:106888800-106889400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr5:106888800-106889600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr5:106888800-106889600	Enhancers	HMEC	breast
42	chr5:106889000-106889200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr5:106889000-106889200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr5:106889000-106889200	Enhancers	Placenta	Placenta
45	chr5:106889000-106889200	Flanking Active TSS	HSMMtube	muscle
46	chr5:106889000-106889400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr5:106889000-106889400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr5:106889000-106889400	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr5:106889000-106889400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr5:106889000-106889400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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