Variant report

Variant	rs4809951
Chromosome Location	chr20:52699984-52699985
allele	A/G
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:52699786..52702321-chr7:44193459..44196461,3	MCF-7	breast:
2	chr20:46612981..46615231-chr20:52699973..52702715,2	MCF-7	breast:
3	chr17:56717772..56719987-chr20:52698366..52701225,2	MCF-7	breast:
4	chr17:56734545..56738013-chr20:52696672..52702961,12	MCF-7	breast:
5	chr17:57920620..57923516-chr20:52699929..52701690,2	MCF-7	breast:
6	chr20:46441312..46444264-chr20:52699308..52701000,2	MCF-7	breast:
7	chr17:59491164..59492814-chr20:52697819..52700709,2	MCF-7	breast:
8	chr20:46711427..46713009-chr20:52698231..52700045,2	MCF-7	breast:
9	chr20:46412955..46417498-chr20:52699874..52705785,9	MCF-7	breast:
10	chr17:56707745..56710309-chr20:52697502..52703858,9	MCF-7	breast:
11	chr20:52698958..52701623-chr20:55839587..55843056,3	MCF-7	breast:
12	chr17:56703018..56712407-chr20:52697460..52725685,93	MCF-7	breast:

No data

No data

No data

Variant related genes	Relation type
ENSG00000101144	Chromatin interaction
ENSG00000196562	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000226308	Chromatin interaction
ENSG00000202077	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs290412	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6022955	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6127084	0.83[ASN][1000 genomes]
rs922376	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs928492	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs928493	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	esv34060	chr20:52251863-52702186	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	296 gene(s)	inside rSNPs	diseases
2	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 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	chr20:52693000-52701200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr20:52695600-52700200	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr20:52697200-52700600	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr20:52698600-52701000	Enhancers	Primary B cells from peripheral blood	blood
5	chr20:52699200-52700200	Weak transcription	Stomach Mucosa	stomach
6	chr20:52699200-52700400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr20:52699200-52701000	Enhancers	GM12878-XiMat	blood
8	chr20:52699200-52701200	Enhancers	A549	lung
9	chr20:52699200-52707000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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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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