Variant report

Variant	rs4912323
Chromosome Location	chr1:58766535-58766536
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	chr1:58762783..58765728-chr1:58766198..58768181,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11207189	0.95[EUR][1000 genomes]
rs11207192	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11579843	0.97[EUR][1000 genomes]
rs11589402	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12031219	0.95[EUR][1000 genomes]
rs12737032	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12751731	0.95[EUR][1000 genomes]
rs1619352	0.91[EUR][1000 genomes]
rs1886305	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1924562	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2406648	0.95[EUR][1000 genomes]
rs486262	0.95[EUR][1000 genomes]
rs4912186	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4912316	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4912321	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs496009	0.95[EUR][1000 genomes]
rs592262	0.93[EUR][1000 genomes]
rs594016	0.95[EUR][1000 genomes]
rs597138	0.95[EUR][1000 genomes]
rs642295	0.93[EUR][1000 genomes]
rs654934	0.95[EUR][1000 genomes]
rs6661925	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6680413	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6703393	0.98[EUR][1000 genomes]
rs689231	0.95[EUR][1000 genomes]
rs912503	0.95[EUR][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	nsv1015057	chr1:57976993-58793962	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv431379	chr1:58224212-58802608	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1008968	chr1:58582159-58982440	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv534974	chr1:58582159-58982440	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	esv1833343	chr1:58733050-58769757	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv1838449	chr1:58733050-58769757	Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:58757400-58777000	Weak transcription	Primary T cells from cord blood	blood
2	chr1:58766400-58766600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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