Variant report

Variant	rs56114342
Chromosome Location	chr13:53740153-53740154
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs55789421	1.00[AMR][1000 genomes]
rs56983824	1.00[AMR][1000 genomes]
rs57694479	0.93[AMR][1000 genomes]
rs57736323	0.93[AMR][1000 genomes]
rs58606612	0.87[AMR][1000 genomes]
rs60146847	0.93[AMR][1000 genomes]
rs60174455	0.93[AMR][1000 genomes]
rs60604014	0.87[AMR][1000 genomes]
rs7326595	1.00[AMR][1000 genomes]
rs73480941	0.93[AMR][1000 genomes]
rs73480958	0.93[AMR][1000 genomes]
rs73483509	1.00[AMR][1000 genomes]
rs74086440	0.93[AMR][1000 genomes]
rs74086712	1.00[AMR][1000 genomes]
rs74086719	1.00[AMR][1000 genomes]
rs74086727	1.00[AMR][1000 genomes]
rs74086733	1.00[AMR][1000 genomes]
rs74086787	0.93[AMR][1000 genomes]
rs74086791	0.93[AMR][1000 genomes]
rs74090326	0.93[AMR][1000 genomes]
rs74090335	0.93[AMR][1000 genomes]
rs74090344	0.87[AMR][1000 genomes]
rs74090352	0.87[AMR][1000 genomes]
rs7988111	0.93[AMR][1000 genomes]
rs7991958	0.86[AMR][1000 genomes]
rs7995056	0.93[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050969	chr13:53665927-54064861	Bivalent Enhancer Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53731400-53741800	Weak transcription	Fetal Brain Male	brain
2	chr13:53735000-53741800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:53738200-53740200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr13:53738400-53740600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr13:53738800-53740200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr13:53739000-53740400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr13:53739200-53740400	Enhancers	H1 Cell Line	embryonic stem cell
8	chr13:53739400-53740200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr13:53739600-53740400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr13:53739800-53740400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr13:53739800-53740400	Enhancers	Brain Germinal Matrix	brain
12	chr13:53739800-53741000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr13:53739800-53741000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr13:53739800-53743800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr13:53740000-53740200	Enhancers	Fetal Brain Female	brain
16	chr13:53740000-53740400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
17	chr13:53740000-53741000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr13:53740000-53741800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr13:53740000-53741800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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