Variant report

Variant	rs260138
Chromosome Location	chr13:67640458-67640459
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1172965	0.86[AFR][1000 genomes]
rs1172966	0.93[AFR][1000 genomes]
rs1185467	0.86[AFR][1000 genomes]
rs1323928	0.81[AFR][1000 genomes]
rs166335	1.00[AFR][1000 genomes]
rs187756	1.00[AFR][1000 genomes]
rs192322	0.93[AFR][1000 genomes]
rs2038721	0.81[AFR][1000 genomes]
rs2149320	0.93[AFR][1000 genomes]
rs2181755	0.86[AFR][1000 genomes]
rs2325021	0.93[AFR][1000 genomes]
rs260128	1.00[AFR][1000 genomes]
rs260134	1.00[AFR][1000 genomes]
rs260135	1.00[AFR][1000 genomes]
rs260137	1.00[AFR][1000 genomes]
rs260159	0.81[AFR][1000 genomes]
rs260171	0.93[AFR][1000 genomes]
rs4884711	1.00[AFR][1000 genomes]
rs7318303	0.93[AFR][1000 genomes]
rs9540962	0.81[AFR][1000 genomes]
rs9540963	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530605	chr13:67126136-67697306	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1035741	chr13:67212973-68077950	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv541817	chr13:67212973-68077950	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv428604	chr13:67480426-67645030	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv900414	chr13:67515590-67701341	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1045093	chr13:67517932-67693875	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv541821	chr13:67517932-67693875	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv430581	chr13:67572850-67762288	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv430582	chr13:67589898-67762299	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	nsv1037217	chr13:67589937-67728156	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv1039600	chr13:67593961-67726047	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	nsv541823	chr13:67593961-67726047	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67635600-67645000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr13:67637800-67643600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr13:67638000-67641000	Weak transcription	Brain Anterior Caudate	brain
4	chr13:67638000-67642600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr13:67638000-67644400	Weak transcription	Brain Angular Gyrus	brain
6	chr13:67638000-67644600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr13:67638400-67643400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr13:67638400-67649800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr13:67639400-67642600	Weak transcription	Brain Hippocampus Middle	brain
10	chr13:67639600-67641800	Weak transcription	Brain Substantia Nigra	brain
11	chr13:67640200-67649200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr13:67640400-67641200	Weak transcription	A549	lung

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