Variant report

Variant	rs928493
Chromosome Location	chr20:52700529-52700530
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:18 , 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	chr20:46419051..46422145-chr20:52700320..52703232,3	MCF-7	breast:
4	chr17:56717772..56719987-chr20:52698366..52701225,2	MCF-7	breast:
5	chr17:56734545..56738013-chr20:52696672..52702961,12	MCF-7	breast:
6	chr20:52700468..52702286-chr20:52872421..52874639,2	MCF-7	breast:
7	chr17:57920620..57923516-chr20:52699929..52701690,2	MCF-7	breast:
8	chr20:46441312..46444264-chr20:52699308..52701000,2	MCF-7	breast:
9	chr12:16502598..16504840-chr20:52700346..52703261,2	MCF-7	breast:
10	chr17:57913465..57916226-chr20:52700387..52703244,3	MCF-7	breast:
11	chr17:59491164..59492814-chr20:52697819..52700709,2	MCF-7	breast:
12	chr20:46412955..46417498-chr20:52699874..52705785,9	MCF-7	breast:
13	chr17:56707745..56710309-chr20:52697502..52703858,9	MCF-7	breast:
14	chr17:56735122..56737701-chr20:52700294..52703497,3	MCF-7	breast:
15	chr20:41014614..41017340-chr20:52700025..52702300,3	MCF-7	breast:
16	chr20:46412091..46416534-chr20:52700009..52706788,8	MCF-7	breast:
17	chr20:52698958..52701623-chr20:55839587..55843056,3	MCF-7	breast:
18	chr17:56703018..56712407-chr20:52697460..52725685,93	MCF-7	breast:

No data

No data

No data

Variant related genes	Relation type
ENSG00000202077	Chromatin interaction
ENSG00000101144	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000226308	Chromatin interaction
ENSG00000008394	Chromatin interaction
ENSG00000196562	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs290400	0.87[AFR][1000 genomes]
rs290412	0.95[CEU][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4809951	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6022955	1.00[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	0.95[CEU][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs928492	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.99[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:7 , 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	chr20:52697200-52700600	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr20:52698600-52701000	Enhancers	Primary B cells from peripheral blood	blood
4	chr20:52699200-52701000	Enhancers	GM12878-XiMat	blood
5	chr20:52699200-52701200	Enhancers	A549	lung
6	chr20:52699200-52707000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr20:52700400-52700800	Weak transcription	Stomach Mucosa	stomach

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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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