Variant report

Variant	rs2808679
Chromosome Location	chr9:100477214-100477215
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:100476626..100478474-chr9:100481765..100484991,3	MCF-7	breast:
2	chr9:100477106..100478683-chr9:100480479..100483251,2	MCF-7	breast:
3	chr9:100476999..100478674-chr9:100490072..100492132,2	MCF-7	breast:
4	chr9:100475511..100477601-chr9:100564696..100566585,2	MCF-7	breast:
5	chr9:100473102..100474630-chr9:100476302..100477871,2	K562	blood:
6	chr9:100476522..100478134-chr9:100564104..100567075,2	K562	blood:
7	chr9:100475762..100478483-chr9:100478575..100480618,2	K562	blood:
8	chr9:100475449..100479903-chr9:100484059..100486391,3	MCF-7	breast:
9	chr9:100476560..100478443-chr9:100492452..100494502,2	K562	blood:

No data

No data

No data

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10817988	0.82[ASN][1000 genomes]
rs10983513	0.82[ASN][1000 genomes]
rs11792527	0.82[ASN][1000 genomes]
rs12375515	0.82[ASN][1000 genomes]
rs1355599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16923900	0.80[ASN][1000 genomes]
rs2805827	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2808672	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2808680	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2808692	0.92[ASN][1000 genomes]
rs3994138	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7849815	0.80[ASN][1000 genomes]
rs953199	0.82[ASN][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	nsv893610	chr9:100324086-100496160	Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1043753	chr9:100458109-100599265	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100475800-100477400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr9:100475800-100477600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr9:100475800-100477600	Enhancers	HMEC	breast
4	chr9:100475800-100477800	Enhancers	NHEK	skin
5	chr9:100476000-100477600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr9:100476200-100477800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr9:100476400-100477400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr9:100476400-100477600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr9:100476400-100477600	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr9:100476600-100477400	Enhancers	Primary T cells fromperipheralblood	blood
11	chr9:100477200-100477400	Enhancers	Primary T cells from cord blood	blood
12	chr9:100477200-100479000	Weak transcription	A549	lung
13	chr9:100477200-100480000	Weak transcription	HSMMtube	muscle

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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