Variant report

Variant	rs505399
Chromosome Location	chr1:47936696-47936697
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12070024	0.84[AMR][1000 genomes]
rs12090153	0.83[CHD][hapmap];0.80[GIH][hapmap];0.81[LWK][hapmap];0.95[MKK][hapmap];0.86[TSI][hapmap];0.85[AMR][1000 genomes]
rs1316443	0.83[AMR][1000 genomes]
rs1680018	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1680020	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2405922	0.81[MKK][hapmap]
rs2622909	0.82[AMR][1000 genomes]
rs2622917	0.80[AMR][1000 genomes]
rs2820971	0.82[AMR][1000 genomes]
rs4603175	0.81[MKK][hapmap]
rs524158	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs527551	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs538286	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs557851	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs571281	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61103903	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7526434	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7552140	0.86[AMR][1000 genomes];0.82[EUR][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	nsv1001779	chr1:47884229-48111485	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv871299	chr1:47889417-48057890	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	esv2755190	chr1:47907580-48048680	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47934400-47950600	Weak transcription	Right Atrium	heart
2	chr1:47935000-47940000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr1:47935000-47943400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:47935000-47943600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:47935000-47943600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:47936000-47945400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:47936400-47936800	Weak transcription	Brain Germinal Matrix	brain
8	chr1:47936600-47937600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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