Variant report

Variant	rs9472459
Chromosome Location	chr6:45273694-45273695
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:45271337..45274007-chr6:45344284..45348156,3	K562	blood:
2	chr6:45271340..45273940-chr6:45277312..45279261,2	K562	blood:

Variant related genes	Relation type
ENSG00000196284	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs1284957	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1284958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1284959	0.83[EUR][1000 genomes]
rs1284963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1284970	0.83[EUR][1000 genomes]
rs1284971	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1284976	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs1284977	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs1284978	0.80[EUR][1000 genomes]
rs1284981	0.83[EUR][1000 genomes]
rs1284984	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs1284985	0.83[EUR][1000 genomes]
rs1284994	0.94[EUR][1000 genomes]
rs1284996	0.83[EUR][1000 genomes]
rs1284997	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1284998	0.80[EUR][1000 genomes]
rs1285001	0.83[EUR][1000 genomes]
rs1285012	0.83[EUR][1000 genomes]
rs1285015	0.83[EUR][1000 genomes]
rs1285016	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1285017	0.83[EUR][1000 genomes]
rs1625102	0.83[EUR][1000 genomes]
rs1629619	0.83[EUR][1000 genomes]
rs1630758	0.94[EUR][1000 genomes]
rs1632504	0.83[EUR][1000 genomes]
rs1748241	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1748246	0.83[EUR][1000 genomes]
rs1797155	0.83[EUR][1000 genomes]
rs1797157	0.83[EUR][1000 genomes]
rs1797160	0.83[EUR][1000 genomes]
rs1797162	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs2763135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4278013	0.83[EUR][1000 genomes]
rs4296887	0.88[EUR][1000 genomes]
rs4323299	0.83[EUR][1000 genomes]
rs4437465	0.83[EUR][1000 genomes]
rs4452642	0.83[EUR][1000 genomes]
rs4469289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4520015	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs4714849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56000304	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56051040	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56142650	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56218508	1.00[AFR][1000 genomes]
rs56300352	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6908280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6932726	0.80[EUR][1000 genomes]
rs6933742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72857008	1.00[AFR][1000 genomes]
rs72857044	1.00[AFR][1000 genomes]
rs72857059	1.00[AFR][1000 genomes]
rs72857063	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72857065	1.00[AFR][1000 genomes]
rs72857066	1.00[AFR][1000 genomes]
rs72858503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72858507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72858522	1.00[AFR][1000 genomes]
rs72858523	1.00[AFR][1000 genomes]
rs72858529	1.00[AFR][1000 genomes]
rs72858566	1.00[AFR][1000 genomes]
rs72869128	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs72869130	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs72869143	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs72870914	1.00[AFR][1000 genomes]
rs72870922	1.00[AFR][1000 genomes]
rs7753900	0.83[EUR][1000 genomes]
rs7756721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9296454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9349320	0.88[EUR][1000 genomes]
rs9369557	0.80[EUR][1000 genomes]
rs9395096	0.83[EUR][1000 genomes]
rs9463084	0.83[EUR][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	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	esv2763550	chr6:45186825-45275593	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv830652	chr6:45187467-45328983	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45249800-45278200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:45260400-45273800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr6:45268000-45274000	Weak transcription	Gastric	stomach
4	chr6:45271600-45274000	Weak transcription	Dnd41	blood
5	chr6:45273400-45273800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:45273600-45273800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:45273600-45274200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr6:45273600-45275400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:45273600-45275600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell

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