Variant report

Variant	rs1306745
Chromosome Location	chr5:128338205-128338206
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1047999	0.89[EUR][1000 genomes]
rs1181961	0.84[EUR][1000 genomes]
rs1181963	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1181964	0.84[EUR][1000 genomes]
rs1181967	0.89[EUR][1000 genomes]
rs1181975	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1183069	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1184350	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2430197	0.83[EUR][1000 genomes]
rs257925	0.84[EUR][1000 genomes]
rs257926	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs257929	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs257936	0.83[EUR][1000 genomes]
rs31271	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs31272	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs31273	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882839	chr5:128205828-128390167	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv882840	chr5:128205828-128428962	Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv830485	chr5:128298622-128480492	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
4	nsv882841	chr5:128301971-128400356	Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv882842	chr5:128301971-128552706	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
6	nsv882843	chr5:128325025-128367988	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv882844	chr5:128325025-128377555	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv882845	chr5:128325025-128404226	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv599701	chr5:128328165-128773052	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
10	nsv1015525	chr5:128335133-128443859	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:128329000-128372000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr5:128335600-128339200	Genic enhancers	Fetal Heart	heart
3	chr5:128336400-128338800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr5:128336800-128339200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:128336800-128339200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr5:128337200-128338400	Enhancers	Brain Hippocampus Middle	brain
7	chr5:128337200-128338400	Enhancers	Brain Substantia Nigra	brain
8	chr5:128337200-128339000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:128337400-128339000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr5:128337600-128338800	Enhancers	Brain Cingulate Gyrus	brain
11	chr5:128337600-128339000	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr5:128337600-128339000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr5:128337800-128338400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr5:128337800-128339000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr5:128337800-128339000	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr5:128338000-128338400	Weak transcription	Brain Anterior Caudate	brain
17	chr5:128338000-128338800	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr5:128338000-128339000	Enhancers	H9 Cell Line	embryonic stem cell
19	chr5:128338200-128338400	Enhancers	Left Ventricle	heart
20	chr5:128338200-128339200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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