Variant report

Variant	rs13239504
Chromosome Location	chr7:38503951-38503952
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs12701628	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12701630	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13222261	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13222587	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs13224853	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13228275	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13232982	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13240983	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13309204	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17171387	0.86[AFR][1000 genomes]
rs2392571	0.91[ASN][1000 genomes]
rs2392572	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2893561	0.86[AFR][1000 genomes]
rs33999580	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34181423	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34181529	0.92[ASN][1000 genomes]
rs34357670	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34433569	0.97[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs34492046	0.90[EUR][1000 genomes]
rs34523382	0.97[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs34665148	0.97[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs34789395	0.90[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs34826441	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34858959	0.90[EUR][1000 genomes]
rs34927712	0.91[ASN][1000 genomes]
rs35065491	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35189743	0.97[EUR][1000 genomes]
rs35367242	0.97[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs35375449	0.90[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs35440398	0.92[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs35694535	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35978695	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3778876	0.86[AFR][1000 genomes]
rs3807416	0.86[AFR][1000 genomes]
rs3823594	0.90[AFR][1000 genomes]
rs3943706	0.90[YRI][hapmap];0.97[AFR][1000 genomes]
rs57486020	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66520224	0.90[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs6956760	0.86[AFR][1000 genomes]
rs6962512	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs71548611	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs71548612	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71548613	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs929629	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758112	chr7:38218703-38523455	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	esv2759524	chr7:38218703-38523455	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv427776	chr7:38218703-38523455	Genic enhancers Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv932229	chr7:38248340-38727527	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
5	nsv830965	chr7:38350614-38521047	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv830966	chr7:38393663-38602553	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	esv1825425	chr7:38457144-38507180	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38499400-38506800	Weak transcription	Left Ventricle	heart
2	chr7:38499800-38523600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:38501000-38522400	Weak transcription	Fetal Muscle Leg	muscle
4	chr7:38501800-38522600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr7:38502000-38512200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:38502600-38504000	Enhancers	Brain Angular Gyrus	brain
7	chr7:38502600-38549400	Weak transcription	Fetal Stomach	stomach
8	chr7:38502800-38533800	Weak transcription	Aorta	Aorta
9	chr7:38503200-38504000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:38503400-38504000	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr7:38503400-38506600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:38503600-38504200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:38503600-38504600	Enhancers	GM12878-XiMat	blood
14	chr7:38503800-38504000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:38503800-38504800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr7:38503800-38505000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:38503800-38505800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr7:38503800-38522400	Weak transcription	Fetal Lung	lung

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