Variant report

Variant	rs12718695
Chromosome Location	chr7:52703932-52703933
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11238219	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11768808	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11972154	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11978199	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11979296	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12536581	0.80[ASN][1000 genomes]
rs12539018	0.80[ASN][1000 genomes]
rs13239908	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1442247	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1470215	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17135230	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1837903	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34047048	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34063331	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35117099	0.80[ASN][1000 genomes]
rs35943655	0.80[ASN][1000 genomes]
rs36162165	0.82[ASN][1000 genomes]
rs6955260	0.80[ASN][1000 genomes]
rs6959309	0.80[ASN][1000 genomes]
rs6961488	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6971491	0.80[ASN][1000 genomes]
rs6972285	0.80[ASN][1000 genomes]
rs6972609	0.80[ASN][1000 genomes]
rs6972623	0.80[ASN][1000 genomes]
rs6973136	0.80[ASN][1000 genomes]
rs6973629	0.80[ASN][1000 genomes]
rs7810220	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9690639	0.80[ASN][1000 genomes]
rs9691401	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888026	chr7:52588348-53013671	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv888027	chr7:52588348-53190508	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:52703000-52704800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:52703000-52706800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:52703200-52706600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr7:52703200-52706600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr7:52703200-52706800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr7:52703200-52706800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:52703200-52706800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:52703200-52706800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr7:52703400-52704600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:52703400-52706400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr7:52703400-52706600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr7:52703400-52706600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr7:52703400-52706600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr7:52703400-52706800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:52703400-52706800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr7:52703400-52707800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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