Variant report

Variant	rs12546875
Chromosome Location	chr8:107012915-107012916
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:106985533..106989678-chr8:107012423..107017669,5	K562	blood:

Extended variants
information (count: 111 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs10086055	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10092927	0.93[ASN][1000 genomes]
rs1032545	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10505091	0.93[ASN][1000 genomes]
rs10808408	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10955407	0.93[ASN][1000 genomes]
rs10955408	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10955409	0.93[ASN][1000 genomes]
rs10955412	0.96[CEU][hapmap];0.82[EUR][1000 genomes]
rs11781234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11781331	0.92[EUR][1000 genomes]
rs11782609	0.93[ASN][1000 genomes]
rs11786829	0.93[ASN][1000 genomes]
rs12542361	0.97[ASN][1000 genomes]
rs12542647	0.90[CHB][hapmap]
rs12674846	0.99[ASN][1000 genomes]
rs12675478	0.89[ASN][1000 genomes]
rs12676365	0.90[CHB][hapmap]
rs12677927	0.92[ASN][1000 genomes]
rs12680670	0.99[ASN][1000 genomes]
rs12681183	0.99[ASN][1000 genomes]
rs13439705	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1353449	0.85[CHB][hapmap]
rs1353450	0.93[ASN][1000 genomes]
rs1429681	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1496180	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1496181	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1496182	0.93[ASN][1000 genomes]
rs1496183	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1603357	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1603363	0.93[ASN][1000 genomes]
rs16873989	0.93[ASN][1000 genomes]
rs1817939	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1835267	0.93[ASN][1000 genomes]
rs1835268	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2029878	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2029879	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2029880	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2029881	0.97[ASN][1000 genomes]
rs2029882	0.93[ASN][1000 genomes]
rs2059943	0.91[ASN][1000 genomes]
rs2115703	0.93[ASN][1000 genomes]
rs2132471	0.97[ASN][1000 genomes]
rs2163124	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2172997	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2217391	0.93[ASN][1000 genomes]
rs2345068	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2345070	0.89[ASN][1000 genomes]
rs34177605	0.93[ASN][1000 genomes]
rs34872724	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4416800	0.97[ASN][1000 genomes]
rs4734126	0.93[ASN][1000 genomes]
rs4734128	0.93[ASN][1000 genomes]
rs4734892	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4734893	0.97[ASN][1000 genomes]
rs4734894	0.97[ASN][1000 genomes]
rs4734895	0.97[ASN][1000 genomes]
rs55639043	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55729609	0.93[ASN][1000 genomes]
rs55762012	0.93[ASN][1000 genomes]
rs55811614	0.93[ASN][1000 genomes]
rs56352125	0.93[ASN][1000 genomes]
rs56402027	0.93[ASN][1000 genomes]
rs57607757	0.93[ASN][1000 genomes]
rs57715289	0.93[ASN][1000 genomes]
rs59123253	0.99[ASN][1000 genomes]
rs59858392	0.93[ASN][1000 genomes]
rs60482457	0.92[ASN][1000 genomes]
rs62525696	0.93[ASN][1000 genomes]
rs62525736	0.97[ASN][1000 genomes]
rs62527360	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62527363	0.93[ASN][1000 genomes]
rs62527373	0.93[ASN][1000 genomes]
rs62527374	0.93[ASN][1000 genomes]
rs62527375	0.89[ASN][1000 genomes]
rs62527376	0.93[ASN][1000 genomes]
rs62527400	0.93[ASN][1000 genomes]
rs62527405	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6415444	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6469023	0.97[ASN][1000 genomes]
rs6469026	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6469027	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6469028	0.99[ASN][1000 genomes]
rs6469030	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6469031	0.89[ASN][1000 genomes]
rs6469032	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6984393	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6987512	0.97[ASN][1000 genomes]
rs6997487	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6999580	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7003520	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7008840	0.93[ASN][1000 genomes]
rs7012379	0.83[ASN][1000 genomes]
rs7013082	0.85[CHB][hapmap]
rs72676052	0.93[ASN][1000 genomes]
rs7460291	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7812766	0.93[ASN][1000 genomes]
rs7814776	0.85[CHB][hapmap]
rs7815337	0.92[ASN][1000 genomes]
rs7819043	0.97[ASN][1000 genomes]
rs7819501	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7829054	0.93[ASN][1000 genomes]
rs7830426	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7836196	0.93[ASN][1000 genomes]
rs7839195	0.93[ASN][1000 genomes]
rs7839239	0.91[ASN][1000 genomes]
rs7843166	0.93[ASN][1000 genomes]
rs7846149	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7846262	0.93[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	nsv1021369	chr8:106493317-107243322	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv611840	chr8:106913294-107265915	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12546875	ANGPT1	cis	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107009400-107013400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:107011000-107014400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:107012400-107013000	Enhancers	A549	lung
4	chr8:107012800-107022200	Weak transcription	NH-A	brain

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