Variant report

Variant	rs12478263
Chromosome Location	chr2:116145068-116145069
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10165687	0.85[ASN][1000 genomes]
rs10167944	0.85[ASN][1000 genomes]
rs10180987	0.99[ASN][1000 genomes]
rs10181472	0.88[AFR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10181696	0.84[ASN][1000 genomes]
rs10451600	0.82[ASN][1000 genomes]
rs10496490	0.82[ASN][1000 genomes]
rs10496491	0.84[ASN][1000 genomes]
rs11123302	0.84[ASN][1000 genomes]
rs1155664	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1159302	0.97[ASN][1000 genomes]
rs11883530	0.82[ASN][1000 genomes]
rs11896853	0.95[ASN][1000 genomes]
rs11898241	0.83[ASN][1000 genomes]
rs11898436	0.82[ASN][1000 genomes]
rs11902350	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12474916	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12478502	1.00[ASN][1000 genomes]
rs13017848	0.84[ASN][1000 genomes]
rs1356384	0.86[ASN][1000 genomes]
rs1400660	0.84[ASN][1000 genomes]
rs1400662	0.85[ASN][1000 genomes]
rs1400663	0.85[ASN][1000 genomes]
rs1400667	0.97[ASN][1000 genomes]
rs1400668	0.80[ASN][1000 genomes]
rs1402445	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1517361	0.84[ASN][1000 genomes]
rs1517362	0.84[ASN][1000 genomes]
rs1517371	0.95[ASN][1000 genomes]
rs1521071	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1521075	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1521078	0.85[ASN][1000 genomes]
rs1812952	0.90[ASN][1000 genomes]
rs1949402	0.92[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2176955	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2420815	0.87[ASN][1000 genomes]
rs2420819	0.80[ASN][1000 genomes]
rs2421100	0.84[ASN][1000 genomes]
rs4268936	0.82[ASN][1000 genomes]
rs4493269	0.82[ASN][1000 genomes]
rs4610067	0.82[ASN][1000 genomes]
rs4849396	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6542256	0.85[ASN][1000 genomes]
rs6542259	0.82[ASN][1000 genomes]
rs6714356	0.98[ASN][1000 genomes]
rs6716722	0.97[ASN][1000 genomes]
rs6749876	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6760151	0.96[ASN][1000 genomes]
rs7422121	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7561031	0.83[ASN][1000 genomes]
rs7564387	0.98[ASN][1000 genomes]
rs7568698	0.87[ASN][1000 genomes]
rs7571103	0.89[AFR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7578669	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7589983	0.84[ASN][1000 genomes]
rs7605036	0.87[ASN][1000 genomes]
rs908599	0.86[ASN][1000 genomes]
rs949889	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs963850	0.85[ASN][1000 genomes]
rs963851	0.85[ASN][1000 genomes]
rs975453	0.83[ASN][1000 genomes]
rs992217	0.94[ASN][1000 genomes]
rs992218	0.80[ASN][1000 genomes]
rs993986	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874918	chr2:116098665-116183946	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	n/a	n/a	inside rSNPs	diseases
2	nsv874919	chr2:116130709-116219686	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 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	chr2:116144000-116146400	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr2:116144600-116145600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:116144800-116151200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr2:116144800-116151200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr2:116144800-116151400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr2:116144800-116151600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr2:116144800-116152600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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