Variant report

Variant	rs3909351
Chromosome Location	chr5:126707850-126707851
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:126673266..126674884-chr5:126706701..126708447,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10519936	1.00[CEU][hapmap];0.83[JPT][hapmap];0.82[YRI][hapmap];0.89[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs10519937	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs10519938	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs11743934	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs11949330	0.82[EUR][1000 genomes]
rs11950427	1.00[CEU][hapmap]
rs11952366	0.83[EUR][1000 genomes]
rs11952552	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs11959505	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs12233927	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs12234066	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs1363388	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1363631	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs1422318	1.00[CEU][hapmap];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1593949	0.83[EUR][1000 genomes]
rs1593950	0.83[EUR][1000 genomes]
rs17164903	0.83[EUR][1000 genomes]
rs17164915	0.83[EUR][1000 genomes]
rs17164935	0.85[CEU][hapmap]
rs17164995	0.86[CEU][hapmap];0.83[JPT][hapmap];0.90[EUR][1000 genomes]
rs17164996	0.85[CEU][hapmap]
rs17165090	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs173509	0.81[EUR][1000 genomes]
rs17604615	0.85[CEU][hapmap]
rs17604665	0.86[CEU][hapmap]
rs17604889	0.85[CEU][hapmap]
rs17673685	0.85[CEU][hapmap]
rs17839693	1.00[CEU][hapmap];0.84[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17839695	0.86[CEU][hapmap]
rs2173978	0.83[EUR][1000 genomes]
rs2408871	1.00[CEU][hapmap]
rs2408873	0.81[EUR][1000 genomes]
rs2434620	0.82[EUR][1000 genomes]
rs3756721	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs3812055	0.85[CEU][hapmap]
rs3844184	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs3851469	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs4395678	0.81[EUR][1000 genomes]
rs4604231	0.83[EUR][1000 genomes]
rs55663031	0.83[EUR][1000 genomes]
rs55763657	0.83[EUR][1000 genomes]
rs56006993	0.91[EUR][1000 genomes]
rs57411417	0.83[EUR][1000 genomes]
rs59745967	0.88[EUR][1000 genomes]
rs60153933	0.86[EUR][1000 genomes]
rs60901740	0.85[EUR][1000 genomes]
rs61175766	0.83[EUR][1000 genomes]
rs6595764	0.84[EUR][1000 genomes]
rs6595767	0.85[CEU][hapmap]
rs6595769	0.85[CEU][hapmap]
rs67425941	0.83[EUR][1000 genomes]
rs6874521	0.86[CEU][hapmap];0.90[EUR][1000 genomes]
rs6881894	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6886487	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6888010	0.84[EUR][1000 genomes]
rs7700469	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1019821	chr5:126658200-126934917	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv537894	chr5:126658200-126934917	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1032587	chr5:126691103-126826978	Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126691000-126746000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:126703600-126708400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:126703800-126708200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr5:126703800-126709600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr5:126703800-126709600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr5:126703800-126709800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:126704000-126712400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr5:126706200-126719400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr5:126706400-126708600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr5:126706800-126708000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:126706800-126708200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:126706800-126711600	Weak transcription	Fetal Brain Female	brain
13	chr5:126707000-126708000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr5:126707000-126708000	Enhancers	NH-A	brain
15	chr5:126707000-126709800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr5:126707200-126708000	Enhancers	Muscle Satellite Cultured Cells	--
17	chr5:126707200-126708800	Enhancers	HSMMtube	muscle
18	chr5:126707200-126709800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr5:126707200-126710000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr5:126707400-126708200	Weak transcription	Fetal Muscle Leg	muscle
21	chr5:126707400-126709200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr5:126707400-126709600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr5:126707600-126709400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:126707600-126709600	Weak transcription	Brain Hippocampus Middle	brain
25	chr5:126707600-126709800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr5:126707800-126708200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr5:126707800-126709600	Weak transcription	HSMM	muscle
28	chr5:126707800-126725400	Weak transcription	Brain Angular Gyrus	brain
29	chr5:126707800-126729000	Weak transcription	Brain Substantia Nigra	brain
30	chr5:126707800-126731600	Weak transcription	Brain Anterior Caudate	brain

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