Variant report

Variant	rs13113743
Chromosome Location	chr4:7395586-7395587
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10000132	0.90[CEU][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes]
rs10000236	0.90[CEU][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes]
rs10001291	0.95[CEU][hapmap];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10005036	0.95[CEU][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10005361	0.90[CEU][hapmap];0.81[YRI][hapmap]
rs10005455	0.89[CEU][hapmap];0.82[YRI][hapmap]
rs10033441	0.95[CEU][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10516186	0.95[CEU][hapmap];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12500834	0.95[CEU][hapmap];0.81[YRI][hapmap];0.83[AFR][1000 genomes]
rs12501740	0.83[AFR][1000 genomes]
rs12512241	0.90[CEU][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes]
rs13105667	0.93[CEU][hapmap]
rs13106023	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13125483	0.83[AFR][1000 genomes]
rs13126413	0.95[CEU][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13128656	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13139233	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13140023	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13145868	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13146595	0.94[CEU][hapmap]
rs13150726	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13151988	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28576748	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34840766	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35211466	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35397875	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs36061257	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62277574	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62277575	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62277576	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs66506259	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs68191574	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6821857	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6835535	0.90[CEU][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6835739	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6847931	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6852520	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6852909	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6854113	0.95[CEU][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7700129	0.95[CEU][hapmap]
rs9994834	0.95[CEU][hapmap];0.84[EUR][1000 genomes]
rs9995355	0.90[CEU][hapmap];0.83[YRI][hapmap]
rs9997320	0.95[CEU][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9997426	0.90[CEU][hapmap]
rs9997594	0.95[CEU][hapmap];0.82[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9997796	0.81[CEU][hapmap];0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916610	chr4:7238883-7731946	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv593569	chr4:7291363-7626136	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1011547	chr4:7318232-7637410	Active TSS ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv537017	chr4:7318232-7637410	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1003679	chr4:7319111-7449262	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv469758	chr4:7370083-7546250	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7384200-7399600	Weak transcription	Right Atrium	heart
2	chr4:7389800-7399800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:7390800-7397400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr4:7391400-7395800	Enhancers	Brain Substantia Nigra	brain
5	chr4:7391600-7395800	Enhancers	Brain Cingulate Gyrus	brain
6	chr4:7391800-7402000	Enhancers	Brain Germinal Matrix	brain
7	chr4:7392400-7396000	Bivalent Enhancer	Fetal Stomach	stomach
8	chr4:7392800-7396200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:7393200-7396000	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr4:7393600-7395800	Enhancers	Ovary	ovary
11	chr4:7393600-7400800	Bivalent Enhancer	Fetal Muscle Leg	muscle
12	chr4:7393800-7398200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr4:7394000-7397600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr4:7394400-7396000	Enhancers	NH-A	brain
15	chr4:7394400-7397000	Enhancers	Fetal Lung	lung
16	chr4:7394400-7400000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr4:7394600-7395600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
18	chr4:7394600-7395800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr4:7394600-7396000	Enhancers	HSMM	muscle
20	chr4:7395000-7395800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:7395000-7396400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:7395000-7397000	Weak transcription	Brain Hippocampus Middle	brain
23	chr4:7395000-7397000	Weak transcription	Fetal Thymus	thymus
24	chr4:7395200-7395600	Enhancers	HSMMtube	muscle
25	chr4:7395200-7395600	Bivalent Enhancer	Osteobl	bone
26	chr4:7395200-7395800	Enhancers	Brain Anterior Caudate	brain
27	chr4:7395200-7396200	Weak transcription	Fetal Intestine Small	intestine
28	chr4:7395400-7395600	Enhancers	Brain Angular Gyrus	brain
29	chr4:7395400-7395600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle

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