Variant report

Variant	rs1912390
Chromosome Location	chr2:53226630-53226631
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1077945	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11681279	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11886831	0.82[ASN][1000 genomes]
rs12233053	0.80[ASN][1000 genomes]
rs12476036	0.81[AMR][1000 genomes]
rs1374255	0.82[ASN][1000 genomes]
rs17044006	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17044037	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1828335	0.81[ASN][1000 genomes]
rs2195660	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2288639	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4672154	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59013056	0.84[ASN][1000 genomes]
rs62138364	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs62140326	0.80[AMR][1000 genomes]
rs6545313	0.84[ASN][1000 genomes]
rs6545314	0.83[ASN][1000 genomes]
rs6545316	0.84[ASN][1000 genomes]
rs6723602	0.83[ASN][1000 genomes]
rs7595496	0.90[ASN][1000 genomes]
rs7596997	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010978	chr2:52959769-53249951	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv520722	chr2:53039770-53421015	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv581978	chr2:53091691-53227749	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
4	nsv1012463	chr2:53187151-53377118	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
5	nsv1011257	chr2:53212297-53270575	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
6	nsv874139	chr2:53216917-53277205	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
7	nsv581979	chr2:53216917-53288066	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
8	nsv874140	chr2:53218774-53277205	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
9	nsv1000235	chr2:53218841-53290638	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	inside rSNPs	n/a
10	nsv581980	chr2:53219203-53283334	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
11	nsv1014197	chr2:53219203-53290638	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
12	nsv581981	chr2:53222962-53283334	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53226600-53227200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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