Variant report

Variant	rs12712461
Chromosome Location	chr2:35813100-35813101
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10167615	0.86[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs10168316	0.81[AMR][1000 genomes]
rs10171178	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10179444	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10190386	0.85[ASN][1000 genomes]
rs10495842	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1115263	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1115264	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11681166	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13007143	0.84[AMR][1000 genomes]
rs13011599	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs13015441	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13024477	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13025220	0.91[ASN][1000 genomes]
rs13031827	0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs13031938	0.84[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs13388173	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13421752	0.87[AMR][1000 genomes]
rs13426618	0.83[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs13427457	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1347941	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1347942	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1347943	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1347948	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1371417	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1371419	0.82[ASN][1000 genomes]
rs1371420	0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs1439709	0.84[ASN][1000 genomes]
rs1439715	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17038752	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1898934	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1898935	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1898939	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1898940	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2043914	0.82[EUR][1000 genomes]
rs2372003	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2372009	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2372011	0.85[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2719076	0.92[ASN][1000 genomes]
rs2719091	0.94[ASN][1000 genomes]
rs2719093	0.94[ASN][1000 genomes]
rs28534894	0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs34925908	0.87[AMR][1000 genomes]
rs35339230	0.80[AMR][1000 genomes]
rs35404436	0.87[AMR][1000 genomes]
rs35855779	0.83[AMR][1000 genomes]
rs35940299	0.82[AMR][1000 genomes]
rs6543955	0.87[AMR][1000 genomes]
rs6543959	0.92[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs66494409	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6716879	0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs6720204	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6730912	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6734971	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6736879	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6737642	0.87[AMR][1000 genomes]
rs6739508	0.84[AMR][1000 genomes]
rs7425548	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7557364	0.86[AMR][1000 genomes]
rs7557690	0.88[ASN][1000 genomes]
rs7562096	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7573212	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7584032	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7597745	0.86[AMR][1000 genomes]
rs7597849	0.86[AMR][1000 genomes]
rs7606733	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8179660	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs8179828	0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs9308969	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs934971	0.94[ASN][1000 genomes]
rs934972	0.84[AFR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010722	chr2:35072575-35950219	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv519522	chr2:35425529-35861883	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1008651	chr2:35469467-35896486	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
4	nsv999139	chr2:35483033-35860024	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
5	nsv535636	chr2:35483033-35860024	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
6	nsv873848	chr2:35641532-35973963	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
7	nsv949472	chr2:35709203-36447481	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1009123	chr2:35728920-36412880	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv535639	chr2:35728920-36412880	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv998313	chr2:35731937-36422991	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv535640	chr2:35731937-36422991	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	esv3332262	chr2:35786350-35815764	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
13	nsv2674	chr2:35800855-35845742	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:35808000-35813400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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