Variant report

Variant	rs12047951
Chromosome Location	chr1:79969512-79969513
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	chr1:79967863..79970281-chr1:79971191..79972711,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10874038	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11811462	0.83[ASN][1000 genomes]
rs12021904	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12023367	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12027718	0.83[ASN][1000 genomes]
rs12027888	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12027892	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12029642	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12030013	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12034665	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12036905	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12039488	0.91[ASN][1000 genomes]
rs12039867	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12039923	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12040033	0.83[ASN][1000 genomes]
rs12040121	0.91[ASN][1000 genomes]
rs12040237	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12040880	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12041108	1.00[EUR][1000 genomes]
rs12041180	1.00[ASN][1000 genomes]
rs12041732	1.00[EUR][1000 genomes]
rs12042159	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12043955	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12044515	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12044896	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12044901	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12045663	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12045991	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12046726	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12047490	1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12048746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12049068	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1603126	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17103209	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17103224	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17103273	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17103305	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17103314	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2088103	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2132054	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3000134	0.83[ASN][1000 genomes]
rs3000143	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3000144	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3000145	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3000146	1.00[ASN][1000 genomes]
rs3000157	0.83[ASN][1000 genomes]
rs3015018	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3015069	0.83[ASN][1000 genomes]
rs9425165	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004014	chr1:79811049-80042309	Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1012004	chr1:79945395-80096748	Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv535017	chr1:79945395-80096748	Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1012296	chr1:79945395-80300216	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1005022	chr1:79950774-80106902	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv546636	chr1:79964823-80079996	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:79967200-79970000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:79968400-79969800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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