Variant report

Variant	rs2701179
Chromosome Location	chr12:121375677-121375678
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10849797	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs11065253	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs11065254	1.00[ASN][1000 genomes]
rs11065258	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs11065260	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs11065267	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs11065275	0.86[CEU][hapmap];1.00[ASN][1000 genomes]
rs11065279	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs11065285	1.00[ASN][1000 genomes]
rs11065288	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs11065291	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs11065294	1.00[ASN][1000 genomes]
rs11065308	1.00[ASN][1000 genomes]
rs11065309	1.00[ASN][1000 genomes]
rs11065315	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs11065318	1.00[ASN][1000 genomes]
rs11065326	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065328	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065334	1.00[CEU][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065347	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065353	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1151854	0.82[CEU][hapmap];1.00[ASN][1000 genomes]
rs1151855	1.00[ASN][1000 genomes]
rs1151860	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs1151865	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs1186042	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12366451	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs12370534	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1696358	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1696362	0.89[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs1718207	1.00[ASN][1000 genomes]
rs1732397	1.00[CEU][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1732399	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2454728	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs497457	1.00[CEU][hapmap];1.00[GIH][hapmap];0.87[TSI][hapmap];1.00[ASN][1000 genomes]
rs498255	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs513940	1.00[ASN][1000 genomes]
rs515784	1.00[ASN][1000 genomes]
rs519785	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs530162	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs554197	1.00[ASN][1000 genomes]
rs572009	1.00[ASN][1000 genomes]
rs574993	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs581197	1.00[ASN][1000 genomes]
rs581515	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs582678	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs590556	1.00[ASN][1000 genomes]
rs591489	1.00[ASN][1000 genomes]
rs627211	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs639343	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs645661	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs645786	1.00[ASN][1000 genomes]
rs647336	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs648262	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs651156	1.00[ASN][1000 genomes]
rs660878	1.00[ASN][1000 genomes]
rs671815	1.00[CEU][hapmap];1.00[GIH][hapmap];0.87[TSI][hapmap];1.00[ASN][1000 genomes]
rs708784	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs708788	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs73411916	1.00[ASN][1000 genomes]
rs73413866	1.00[ASN][1000 genomes]
rs73413874	1.00[ASN][1000 genomes]
rs7960932	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:11 , 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	chr12:121374200-121375800	Enhancers	Placenta	Placenta
5	chr12:121374800-121375800	Enhancers	HepG2	liver
6	chr12:121375000-121375800	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr12:121375200-121377600	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr12:121375400-121377600	Weak transcription	Adipose Nuclei	Adipose
9	chr12:121375600-121376000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr12:121375600-121376800	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr12:121375600-121382600	Weak transcription	Fetal Intestine Small	intestine

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