Variant report

Variant	rs467089
Chromosome Location	chr5:106885914-106885915
allele	A/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	0.91[CHB][hapmap]
rs164699	0.86[CHB][hapmap]
rs2161514	0.87[CHB][hapmap]
rs2445074	0.91[CHB][hapmap];0.91[CHD][hapmap];0.83[JPT][hapmap];0.93[ASN][1000 genomes]
rs2484103	0.87[CHB][hapmap]
rs341272	0.91[CHB][hapmap];0.91[CHD][hapmap];0.83[JPT][hapmap];0.93[ASN][1000 genomes]
rs342603	1.00[CHB][hapmap];0.88[JPT][hapmap];0.99[ASN][1000 genomes]
rs342604	0.91[CHB][hapmap]
rs352609	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]
rs41375	0.88[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs445747	0.87[CHB][hapmap]
rs459400	0.88[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs459637	0.91[CHB][hapmap]
rs464950	0.92[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.88[JPT][hapmap];0.96[MEX][hapmap];0.81[TSI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs553363	0.91[CHB][hapmap]
rs555989	0.91[CHB][hapmap]
rs662627	0.95[CHB][hapmap]
rs677797	0.91[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:46 , 50 per page) page: 1

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	chr5:106879400-106888200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:106879400-106888800	Weak transcription	HMEC	breast
6	chr5:106879600-106888000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr5:106879800-106887800	Weak transcription	NHLF	lung
8	chr5:106879800-106888800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:106880200-106889000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr5:106880600-106886800	Weak transcription	Right Ventricle	heart
11	chr5:106881400-106888600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:106881400-106889000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr5:106881600-106899600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr5:106883000-106888600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr5:106883200-106886800	Weak transcription	Fetal Lung	lung
16	chr5:106883400-106890000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr5:106883800-106890200	Weak transcription	Fetal Kidney	kidney
18	chr5:106884600-106896400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr5:106884800-106889600	Enhancers	Fetal Heart	heart
20	chr5:106885200-106887200	Weak transcription	NHDF-Ad	bronchial
21	chr5:106885200-106888000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr5:106885200-106888000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr5:106885200-106888200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr5:106885200-106888600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr5:106885200-106888600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr5:106885200-106888800	Weak transcription	HSMMtube	muscle
27	chr5:106885200-106889000	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr5:106885400-106892600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr5:106885600-106886800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr5:106885600-106887400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr5:106885600-106887800	Weak transcription	HSMM	muscle
32	chr5:106885600-106888000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr5:106885600-106888800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr5:106885600-106888800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr5:106885600-106888800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr5:106885600-106888800	Weak transcription	Left Ventricle	heart
37	chr5:106885600-106889000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:106885600-106889000	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr5:106885600-106889000	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr5:106885600-106889000	Weak transcription	Aorta	Aorta
41	chr5:106885600-106892800	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr5:106885600-106893000	Weak transcription	Esophagus	oesophagus
43	chr5:106885600-106893200	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr5:106885600-106894800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:106885600-106896400	Weak transcription	Right Atrium	heart
46	chr5:106885800-106887000	Weak transcription	A549	lung

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