Variant report

Variant	rs11564230
Chromosome Location	chr12:40837264-40837265
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	12:40793507-40812339..12:40836437-40839614	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
ENSG00000205592	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10878602	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10878603	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11176655	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12581232	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1388782	0.86[ASN][1000 genomes]
rs1388784	0.88[ASN][1000 genomes]
rs1427259	0.84[JPT][hapmap]
rs1427261	0.84[JPT][hapmap];0.87[MEX][hapmap]
rs1444215	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1492321	0.81[TSI][hapmap]
rs1816207	0.84[JPT][hapmap]
rs2588395	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2588414	0.86[ASN][1000 genomes]
rs2588417	0.86[ASN][1000 genomes]
rs2638866	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2638868	0.86[ASN][1000 genomes]
rs2638877	0.81[ASN][1000 genomes]
rs2638881	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2920813	0.86[ASN][1000 genomes]
rs2920832	0.86[ASN][1000 genomes]
rs2933346	0.85[ASN][1000 genomes]
rs2933353	0.88[ASN][1000 genomes]
rs2933354	0.86[ASN][1000 genomes]
rs2933364	0.86[ASN][1000 genomes]
rs2933379	0.88[ASN][1000 genomes]
rs2933380	0.88[ASN][1000 genomes]
rs3861083	0.84[JPT][hapmap]
rs4099579	0.84[JPT][hapmap]
rs6581723	0.84[JPT][hapmap];0.94[MEX][hapmap]
rs7136122	0.84[JPT][hapmap];0.81[MEX][hapmap]

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	nsv832377	chr12:40704881-40855223	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv899033	chr12:40758652-41122288	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1039272	chr12:40817585-40841318	Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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