Variant report

Variant	rs57889678
Chromosome Location	chr5:106851165-106851166
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]
rs1471041	0.89[ASN][1000 genomes]
rs149155	0.89[ASN][1000 genomes]
rs163614	0.89[ASN][1000 genomes]
rs163889	0.89[ASN][1000 genomes]
rs163890	0.89[ASN][1000 genomes]
rs39918	1.00[ASN][1000 genomes]
rs57732546	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58772568	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59747234	1.00[ASN][1000 genomes]
rs60575744	0.89[ASN][1000 genomes]
rs61200118	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61415460	1.00[ASN][1000 genomes]
rs849520	0.89[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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106836400-106855800	Weak transcription	Aorta	Aorta
2	chr5:106838400-106851800	Weak transcription	NHDF-Ad	bronchial
3	chr5:106838600-106855600	Weak transcription	Right Ventricle	heart
4	chr5:106839200-106855600	Weak transcription	HSMM	muscle
5	chr5:106842400-106880000	Weak transcription	Gastric	stomach
6	chr5:106845800-106855600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:106846000-106855800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:106847200-106853200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:106848200-106851400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:106848200-106853200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr5:106848400-106855800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:106848800-106865000	Weak transcription	Right Atrium	heart
13	chr5:106849000-106855600	Weak transcription	Fetal Stomach	stomach
14	chr5:106849000-106859200	Weak transcription	Esophagus	oesophagus
15	chr5:106849200-106859000	Weak transcription	Left Ventricle	heart
16	chr5:106849600-106852400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr5:106849800-106853200	Enhancers	GM12878-XiMat	blood
18	chr5:106849800-106854000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr5:106850000-106853400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr5:106850200-106854000	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr5:106850200-106854400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr5:106850200-106855000	Weak transcription	Fetal Heart	heart
23	chr5:106850400-106853200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr5:106850400-106859000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr5:106850600-106852200	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr5:106850600-106852600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr5:106850600-106852600	Weak transcription	A549	lung
28	chr5:106850600-106854400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:106850600-106855200	Weak transcription	Fetal Kidney	kidney
30	chr5:106850600-106855400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr5:106850800-106851400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:106850800-106852800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr5:106850800-106852800	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr5:106850800-106852800	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr5:106850800-106853000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr5:106850800-106853200	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr5:106850800-106853200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr5:106850800-106854000	Weak transcription	HMEC	breast
39	chr5:106850800-106855600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr5:106850800-106855600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr5:106850800-106855600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr5:106850800-106855600	Weak transcription	Thymus	Thymus
43	chr5:106850800-106855600	Weak transcription	NHEK	skin
44	chr5:106851000-106851400	Weak transcription	Dnd41	blood
45	chr5:106851000-106851600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr5:106851000-106852800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr5:106851000-106853400	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr5:106851000-106855200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr5:106851000-106855200	Weak transcription	Fetal Thymus	thymus

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