Variant report

Variant	rs12065519
Chromosome Location	chr1:196467376-196467377
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	chr1:196465797..196468013-chr1:196470561..196472451,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10494743	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10754188	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10801533	0.83[EUR][1000 genomes]
rs10801537	0.80[ASN][1000 genomes]
rs10801538	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10801539	0.80[ASN][1000 genomes]
rs10922068	0.84[EUR][1000 genomes]
rs10922073	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10922075	0.92[ASN][1000 genomes]
rs10922078	0.86[ASN][1000 genomes]
rs10922082	0.85[ASN][1000 genomes]
rs10922083	0.85[ASN][1000 genomes]
rs10922084	0.83[ASN][1000 genomes]
rs11576790	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11807331	0.80[ASN][1000 genomes]
rs12065463	0.92[ASN][1000 genomes]
rs12123128	0.91[ASN][1000 genomes]
rs12562176	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1416962	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1832617	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2878559	0.82[EUR][1000 genomes]
rs4618911	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4658039	0.93[ASN][1000 genomes]
rs60495441	0.88[ASN][1000 genomes]
rs6696801	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6697795	0.85[ASN][1000 genomes]
rs72732257	0.91[ASN][1000 genomes]
rs72732259	0.88[ASN][1000 genomes]
rs869257	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs946755	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9659527	0.84[EUR][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	nsv931415	chr1:196270759-196744780	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1009233	chr1:196301712-196568874	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196436400-196485200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:196437400-196467800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr1:196447800-196468000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr1:196451400-196467600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr1:196452800-196471200	Weak transcription	Liver	Liver
6	chr1:196454400-196467400	Weak transcription	Ovary	ovary
7	chr1:196466000-196480800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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