Variant report

Variant	rs1594455
Chromosome Location	chr3:88090677-88090678
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:88090384..88092105-chr3:88098144..88100767,2	K562	blood:
2	chr3:88089281..88093496-chr3:88099183..88102618,6	MCF-7	breast:
3	chr3:88090636..88092766-chr3:88106492..88108052,2	MCF-7	breast:
4	chr3:88090306..88092592-chr3:88101405..88103532,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs11128023	1.00[EUR][1000 genomes]
rs12632860	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1367615	1.00[EUR][1000 genomes]
rs1431154	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1431155	1.00[ASN][1000 genomes]
rs1431156	1.00[ASN][1000 genomes]
rs1469570	1.00[ASN][1000 genomes]
rs1594453	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1604700	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1835544	1.00[ASN][1000 genomes]
rs1897238	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2033390	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2344183	1.00[ASN][1000 genomes]
rs2344184	1.00[ASN][1000 genomes]
rs2567037	1.00[EUR][1000 genomes]
rs2735557	1.00[EUR][1000 genomes]
rs2880793	1.00[ASN][1000 genomes]
rs4241549	1.00[EUR][1000 genomes]
rs4241550	1.00[EUR][1000 genomes]
rs4287925	1.00[EUR][1000 genomes]
rs4404474	1.00[EUR][1000 genomes]
rs4425287	1.00[EUR][1000 genomes]
rs4431134	1.00[ASN][1000 genomes]
rs4443201	1.00[EUR][1000 genomes]
rs4513473	1.00[EUR][1000 genomes]
rs4515075	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4616669	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4858927	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4858933	1.00[EUR][1000 genomes]
rs4858970	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4858989	1.00[EUR][1000 genomes]
rs6551270	1.00[EUR][1000 genomes]
rs6767497	1.00[ASN][1000 genomes]
rs7615309	1.00[EUR][1000 genomes]
rs7621357	1.00[EUR][1000 genomes]
rs7625641	1.00[EUR][1000 genomes]
rs7633486	1.00[EUR][1000 genomes]
rs7636845	1.00[EUR][1000 genomes]
rs7650749	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7650912	1.00[EUR][1000 genomes]
rs7650915	1.00[EUR][1000 genomes]
rs930154	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs930155	1.00[ASN][1000 genomes]
rs9310062	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9310063	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9310064	1.00[ASN][1000 genomes]
rs9310069	1.00[EUR][1000 genomes]
rs9310073	1.00[EUR][1000 genomes]
rs9812903	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9833231	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9850550	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9854250	1.00[ASN][1000 genomes]
rs9860113	1.00[EUR][1000 genomes]
rs9864564	1.00[EUR][1000 genomes]
rs9867614	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877146	chr3:87983962-88159835	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
2	nsv916330	chr3:88083580-88884125	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv525814	chr3:88085633-88091543	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:88081800-88091200	Weak transcription	Right Atrium	heart
2	chr3:88088000-88092800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr3:88088400-88104200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:88089000-88102800	Weak transcription	NHDF-Ad	bronchial
5	chr3:88089200-88093000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr3:88090600-88095000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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