Variant report

Variant	rs2393795
Chromosome Location	chr12:121378877-121378878
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs11537856	1.00[AFR][1000 genomes]
rs12313339	1.00[ASN][1000 genomes]
rs1696360	1.00[ASN][1000 genomes]
rs1971317	1.00[ASN][1000 genomes]
rs3213547	1.00[AFR][1000 genomes]
rs34325588	1.00[ASN][1000 genomes]
rs3850521	0.89[CEU][hapmap];1.00[ASN][1000 genomes]
rs41279100	1.00[AFR][1000 genomes]
rs55645249	1.00[ASN][1000 genomes]
rs55660034	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55660947	1.00[ASN][1000 genomes]
rs55811663	1.00[AFR][1000 genomes]
rs55914930	1.00[ASN][1000 genomes]
rs55919842	1.00[ASN][1000 genomes]
rs55941696	1.00[ASN][1000 genomes]
rs55961602	1.00[AFR][1000 genomes]
rs55970240	1.00[ASN][1000 genomes]
rs56046951	0.83[AFR][1000 genomes]
rs56132398	1.00[AFR][1000 genomes]
rs56163702	1.00[ASN][1000 genomes]
rs56175661	1.00[ASN][1000 genomes]
rs56189047	1.00[ASN][1000 genomes]
rs56206244	1.00[ASN][1000 genomes]
rs56280478	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56284009	1.00[ASN][1000 genomes]
rs56298275	1.00[AFR][1000 genomes]
rs56357425	1.00[AFR][1000 genomes]
rs56360386	1.00[AFR][1000 genomes]
rs56391085	1.00[ASN][1000 genomes]
rs56401401	1.00[ASN][1000 genomes]
rs58235352	1.00[ASN][1000 genomes]
rs73214128	1.00[AFR][1000 genomes]
rs73214130	1.00[AFR][1000 genomes]
rs73214134	1.00[AFR][1000 genomes]
rs73214136	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73214141	0.83[AFR][1000 genomes]
rs73214143	1.00[AFR][1000 genomes]
rs73214162	1.00[ASN][1000 genomes]
rs73214163	1.00[ASN][1000 genomes]
rs73214191	1.00[ASN][1000 genomes]
rs73214885	1.00[ASN][1000 genomes]
rs73214888	1.00[ASN][1000 genomes]
rs73214894	1.00[ASN][1000 genomes]
rs73214896	1.00[ASN][1000 genomes]
rs73217009	1.00[ASN][1000 genomes]
rs73217017	1.00[ASN][1000 genomes]
rs73222694	1.00[ASN][1000 genomes]
rs73222699	1.00[ASN][1000 genomes]
rs73224303	1.00[ASN][1000 genomes]
rs73224309	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73224313	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73224318	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73224321	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73224323	1.00[ASN][1000 genomes]
rs73224324	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73224334	1.00[ASN][1000 genomes]
rs73224335	1.00[ASN][1000 genomes]
rs73224338	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73224340	1.00[ASN][1000 genomes]
rs73224341	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73224342	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73226258	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73226260	1.00[ASN][1000 genomes]
rs73226262	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73226263	1.00[AFR][1000 genomes]
rs73226267	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73226270	1.00[ASN][1000 genomes]
rs73226273	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73226274	1.00[ASN][1000 genomes]
rs73226287	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73226288	1.00[ASN][1000 genomes]
rs73226292	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73227016	1.00[ASN][1000 genomes]
rs73227022	1.00[ASN][1000 genomes]
rs73227026	1.00[ASN][1000 genomes]
rs73227027	1.00[ASN][1000 genomes]
rs73227029	1.00[ASN][1000 genomes]
rs73227033	1.00[ASN][1000 genomes]
rs73227036	1.00[ASN][1000 genomes]
rs73227038	1.00[ASN][1000 genomes]
rs73229118	1.00[ASN][1000 genomes]
rs73229126	1.00[ASN][1000 genomes]
rs73229149	1.00[ASN][1000 genomes]
rs73229151	1.00[ASN][1000 genomes]
rs73229157	1.00[ASN][1000 genomes]
rs73229160	1.00[ASN][1000 genomes]
rs73229162	1.00[ASN][1000 genomes]
rs959400	1.00[ASN][1000 genomes]
rs9919745	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv899559	chr12:121324727-121592689	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	esv1838192	chr12:121363589-121402932	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv899560	chr12:121371233-121560581	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv899561	chr12:121376416-121525591	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv899562	chr12:121376416-121565870	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121367400-121394400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:121371200-121380200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr12:121374000-121379000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr12:121375600-121382600	Weak transcription	Fetal Intestine Small	intestine
5	chr12:121376600-121379800	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr12:121377400-121380400	Enhancers	HepG2	liver
7	chr12:121378000-121380200	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr12:121378000-121383000	Weak transcription	Fetal Thymus	thymus
9	chr12:121378800-121379200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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