Variant report

Variant	rs10040754
Chromosome Location	chr5:124381966-124381967
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11241784	0.91[ASN][1000 genomes]
rs11955202	0.83[ASN][1000 genomes]
rs28649435	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4075487	0.86[AFR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4293913	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4451044	0.87[ASN][1000 genomes]
rs4510579	0.87[ASN][1000 genomes]
rs4555796	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4836144	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55888913	0.91[ASN][1000 genomes]
rs55919034	0.87[ASN][1000 genomes]
rs58265751	0.84[ASN][1000 genomes]
rs58908150	0.98[ASN][1000 genomes]
rs59612060	0.85[ASN][1000 genomes]
rs62372843	0.89[ASN][1000 genomes]
rs6595573	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6866873	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6872841	0.91[ASN][1000 genomes]
rs72787446	0.91[ASN][1000 genomes]
rs7444307	0.82[AFR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7446011	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7700716	0.85[ASN][1000 genomes]
rs7711673	0.85[ASN][1000 genomes]
rs9686683	0.85[EUR][1000 genomes];0.91[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	nsv882822	chr5:124250018-124449375	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830474	chr5:124263628-124431299	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv4984	chr5:124377028-124401500	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124376600-124382800	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr5:124378000-124385600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:124378200-124384200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr5:124378400-124382200	Enhancers	HUVEC	blood vessel
5	chr5:124378600-124383000	Enhancers	Muscle Satellite Cultured Cells	--
6	chr5:124379000-124388200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr5:124379200-124382800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:124380000-124385600	Weak transcription	Stomach Mucosa	stomach
9	chr5:124380400-124382200	Enhancers	A549	lung
10	chr5:124380400-124382200	Enhancers	NH-A	brain
11	chr5:124380400-124384200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:124380400-124384800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:124380400-124385200	Weak transcription	Brain Anterior Caudate	brain
14	chr5:124380600-124382600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:124380600-124382600	Weak transcription	Left Ventricle	heart
16	chr5:124380600-124385000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr5:124380600-124388400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr5:124380800-124382400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:124380800-124382400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr5:124380800-124385000	Weak transcription	Osteobl	bone
21	chr5:124381000-124382000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr5:124381200-124383600	Weak transcription	Fetal Kidney	kidney
23	chr5:124381400-124382200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:124381600-124382200	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr5:124381800-124382600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr5:124381800-124388600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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