Variant report

Variant	rs12727790
Chromosome Location	chr1:212893761-212893762
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	chr1:212836810..212838698-chr1:212893366..212895753,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10863990	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10863993	0.88[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs10863999	0.88[EUR][1000 genomes]
rs11120002	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11120011	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11120012	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11120019	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11120024	0.88[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs11120025	0.86[AFR][1000 genomes]
rs12097897	0.89[EUR][1000 genomes]
rs12119821	0.92[ASN][1000 genomes]
rs12125321	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12126017	0.89[EUR][1000 genomes]
rs12132316	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12136046	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12136834	0.88[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs12239975	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12725274	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12741704	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12743402	0.82[EUR][1000 genomes]
rs12747251	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12758602	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12759287	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34274815	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs3820679	0.88[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs4951457	0.91[ASN][1000 genomes]
rs4951460	0.99[ASN][1000 genomes]
rs4951463	0.88[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs4951636	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4951637	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6540761	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6540763	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6661720	0.88[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs6669492	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6679350	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs6679549	0.88[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs6690689	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6694452	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6702025	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6702611	0.88[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs7556272	0.88[AFR][1000 genomes];0.90[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	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
3	nsv549148	chr1:212876902-212962207	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212886400-212894400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:212886600-212894400	Weak transcription	Osteobl	bone
3	chr1:212892000-212894600	Weak transcription	A549	lung
4	chr1:212892000-212894600	Weak transcription	NHDF-Ad	bronchial
5	chr1:212892200-212894200	Weak transcription	HepG2	liver
6	chr1:212892200-212894600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:212892800-212894600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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