Variant report

Variant	rs12478189
Chromosome Location	chr2:172529682-172529683
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:172528585..172533406-chr2:172536831..172539990,4	K562	blood:
2	chr2:172528852..172530373-chr2:172530761..172532541,2	MCF-7	breast:
3	chr2:172526794..172530696-chr2:172532860..172536577,3	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10179020	0.82[ASN][1000 genomes]
rs10184770	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10185633	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10191399	0.80[ASN][1000 genomes]
rs10196521	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs10201520	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1022358	1.00[CHB][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap]
rs10930493	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1105264	0.83[ASN][1000 genomes]
rs11678892	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11887208	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs11903123	0.87[ASN][1000 genomes]
rs12464262	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12471160	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12619137	0.94[CHD][hapmap];0.86[JPT][hapmap]
rs12692971	0.80[ASN][1000 genomes]
rs13012103	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1400816	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs1515812	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1517678	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1543168	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1554165	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1607253	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16859721	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17580984	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17614989	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17615013	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1850031	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1878583	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs1996425	0.83[ASN][1000 genomes]
rs2037164	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2056202	0.94[CHD][hapmap];0.86[JPT][hapmap]
rs2176466	0.86[JPT][hapmap]
rs2292813	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2292814	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2357064	1.00[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs2357206	0.94[CHD][hapmap];0.86[JPT][hapmap]
rs312917	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3770443	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs3770444	0.87[ASN][1000 genomes]
rs3770453	0.86[CHB][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap]
rs3770457	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs3821092	0.83[ASN][1000 genomes]
rs3821094	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs3821096	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs4507064	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4668417	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs58565148	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61588295	0.81[ASN][1000 genomes]
rs6433313	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs6433315	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs6736159	0.94[CHD][hapmap];0.86[JPT][hapmap]
rs6753859	0.81[ASN][1000 genomes]
rs6760680	0.86[JPT][hapmap]
rs7574090	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7574711	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7580232	0.94[CHD][hapmap];0.86[JPT][hapmap]
rs7588351	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs925881	0.85[CHB][hapmap];0.94[CHD][hapmap];0.86[JPT][hapmap]
rs9287948	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs949548	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs970948	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997638	chr2:172442205-172560406	Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172527800-172530600	Enhancers	Fetal Lung	lung

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