Variant report

Variant	rs12479193
Chromosome Location	chr2:148557911-148557912
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:148555853..148558314-chr2:148561785..148564428,2	K562	blood:

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs1014064	0.88[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs1030317	0.81[EUR][1000 genomes]
rs10460259	0.88[CEU][hapmap];1.00[YRI][hapmap]
rs10497024	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs10803523	0.92[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs1128919	0.88[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs11884013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11888152	0.88[CEU][hapmap];1.00[YRI][hapmap]
rs11889608	0.92[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs11900506	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11901963	0.92[CEU][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs11904758	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs12053113	0.91[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12053401	0.92[CEU][hapmap];0.95[YRI][hapmap]
rs12105745	0.96[YRI][hapmap]
rs12463798	0.92[CEU][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs12464617	0.92[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs12469504	0.90[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12472058	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12475399	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12987286	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs12989596	0.87[EUR][1000 genomes]
rs12990959	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12997065	0.94[EUR][1000 genomes]
rs12998729	0.88[CEU][hapmap];0.87[EUR][1000 genomes]
rs13000597	0.92[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs13004451	0.93[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs13005423	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13008497	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs13012311	0.81[EUR][1000 genomes]
rs13013743	0.90[EUR][1000 genomes]
rs13013867	0.91[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs13014904	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13014926	0.98[EUR][1000 genomes]
rs13016083	0.94[EUR][1000 genomes]
rs13016400	0.96[YRI][hapmap]
rs13017754	0.90[EUR][1000 genomes]
rs13019386	0.96[EUR][1000 genomes]
rs13019809	0.92[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs13021972	0.83[AFR][1000 genomes]
rs13022319	0.93[EUR][1000 genomes]
rs13022962	0.92[CEU][hapmap];0.92[YRI][hapmap]
rs13025219	0.92[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs13025589	0.91[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs13025701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13026220	0.90[EUR][1000 genomes]
rs13026650	0.88[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs13027706	0.88[CEU][hapmap];1.00[YRI][hapmap]
rs13028348	0.92[CEU][hapmap];1.00[YRI][hapmap]
rs13028411	0.92[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs13033589	0.81[EUR][1000 genomes]
rs13033696	0.88[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs13034494	0.87[EUR][1000 genomes]
rs13034561	0.95[EUR][1000 genomes]
rs13034793	0.81[EUR][1000 genomes]
rs1345994	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs1364658	0.88[CEU][hapmap];0.87[EUR][1000 genomes]
rs1364660	0.94[EUR][1000 genomes]
rs1424944	0.87[CEU][hapmap];0.92[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs1424946	0.95[EUR][1000 genomes]
rs1424949	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1424954	0.88[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs1469210	0.88[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs1531032	0.88[CEU][hapmap];0.96[YRI][hapmap]
rs1598207	0.81[CEU][hapmap];1.00[YRI][hapmap]
rs16855486	0.95[EUR][1000 genomes]
rs1863152	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1863153	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1895693	0.92[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs1991169	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2059422	0.82[EUR][1000 genomes]
rs2113793	0.88[CEU][hapmap];1.00[YRI][hapmap]
rs2161983	0.92[CEU][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2161984	0.88[CEU][hapmap];1.00[YRI][hapmap]
rs2161985	0.93[EUR][1000 genomes]
rs2303392	0.92[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2307394	0.88[CEU][hapmap];1.00[YRI][hapmap]
rs34005843	0.95[EUR][1000 genomes]
rs35370215	0.93[EUR][1000 genomes]
rs3764955	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs3768687	0.88[CEU][hapmap];0.85[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs3768689	0.88[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs3820716	0.96[YRI][hapmap]
rs3926960	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4419186	0.96[YRI][hapmap]
rs4972272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4972316	0.96[EUR][1000 genomes]
rs4972317	0.81[EUR][1000 genomes]
rs4972318	0.81[EUR][1000 genomes]
rs4972356	0.90[EUR][1000 genomes]
rs4972357	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs6430241	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6430242	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6711673	0.84[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs6729997	0.84[EUR][1000 genomes]
rs6734998	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6760703	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs723681	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs7559714	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7559925	0.87[EUR][1000 genomes]
rs7600869	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs929939	0.88[CEU][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs9679427	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs987122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875275	chr2:148166428-148711242	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv916286	chr2:148438001-148977722	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv529388	chr2:148471340-148934846	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv3392562	chr2:148476961-148843061	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 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	chr2:148557800-148558200	Enhancers	HSMMtube	muscle

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