Variant report

Variant	rs34492687
Chromosome Location	chr1:57887088-57887089
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs12116685	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12117497	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12129740	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs12132290	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12140020	0.84[AMR][1000 genomes]
rs12404869	0.84[AFR][1000 genomes]
rs12411278	0.84[AFR][1000 genomes]
rs12735312	1.00[AFR][1000 genomes]
rs12735915	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs12737593	0.84[AFR][1000 genomes]
rs12739184	1.00[ASN][1000 genomes]
rs12741031	0.84[AFR][1000 genomes]
rs17115785	0.83[AFR][1000 genomes]
rs17115788	0.83[AFR][1000 genomes]
rs17115791	0.83[AFR][1000 genomes]
rs17115796	0.83[AFR][1000 genomes]
rs17115804	0.83[AFR][1000 genomes]
rs17115825	0.83[AFR][1000 genomes]
rs17115830	0.83[AFR][1000 genomes]
rs17115832	0.83[AFR][1000 genomes]
rs17115833	0.83[AFR][1000 genomes]
rs17115846	0.83[AFR][1000 genomes]
rs17457585	0.84[AFR][1000 genomes]
rs34339837	0.84[AFR][1000 genomes]
rs34349049	0.84[AFR][1000 genomes]
rs34374446	0.84[AFR][1000 genomes]
rs34591213	0.84[AFR][1000 genomes]
rs34707135	0.84[AFR][1000 genomes]
rs34725826	0.84[AFR][1000 genomes]
rs35344722	0.84[AFR][1000 genomes]
rs35404211	0.84[AFR][1000 genomes]
rs35511416	0.84[AFR][1000 genomes]
rs35843773	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3908772	0.84[AFR][1000 genomes]
rs56096668	0.84[AFR][1000 genomes]
rs56156700	0.84[AFR][1000 genomes]
rs56252125	0.83[AFR][1000 genomes]
rs57286771	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs59914221	0.83[AFR][1000 genomes]
rs71511461	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs71642115	0.84[AFR][1000 genomes]
rs71642118	0.84[AFR][1000 genomes]
rs74074723	0.83[AFR][1000 genomes]
rs74074724	0.83[AFR][1000 genomes]
rs74074728	0.83[AFR][1000 genomes]
rs74074729	0.83[AFR][1000 genomes]
rs74074730	0.83[AFR][1000 genomes]
rs74074732	0.83[AFR][1000 genomes]
rs74074734	0.83[AFR][1000 genomes]
rs74074736	0.83[AFR][1000 genomes]
rs74074976	0.84[AFR][1000 genomes]
rs74074978	0.84[AFR][1000 genomes]
rs7552354	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817216	chr1:57801783-58130775	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1001771	chr1:57837089-58068175	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv870908	chr1:57884310-58037783	Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57871000-57887600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:57885800-57887800	Active TSS	Fetal Brain Male	brain
3	chr1:57885800-57890800	Active TSS	Fetal Brain Female	brain
4	chr1:57886200-57887200	Weak transcription	Fetal Heart	heart
5	chr1:57886400-57887400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:57886600-57887200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
7	chr1:57886600-57887200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:57886800-57887200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
9	chr1:57886800-57887200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
10	chr1:57886800-57887200	Enhancers	H9 Cell Line	embryonic stem cell
11	chr1:57886800-57887200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
12	chr1:57886800-57887400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:57886800-57887400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:57886800-57887400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
15	chr1:57886800-57887400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
16	chr1:57886800-57890800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr1:57887000-57887200	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
18	chr1:57887000-57887200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:57887000-57887200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
20	chr1:57887000-57887200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
21	chr1:57887000-57887600	Bivalent Enhancer	Brain Germinal Matrix	brain
22	chr1:57887000-57890400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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