Variant report

Variant	rs2585444
Chromosome Location	chr20:52735572-52735573
allele	A/C
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	chr2:64245969..64248105-chr20:52734246..52737123,2	MCF-7	breast:
2	chr17:57924423..57926063-chr20:52733869..52735684,2	MCF-7	breast:
3	chr17:56734883..56738344-chr20:52732166..52735688,4	MCF-7	breast:
4	chr2:8988529..8990034-chr20:52733705..52735797,2	MCF-7	breast:
5	chr17:59476561..59479422-chr20:52733839..52735700,2	MCF-7	breast:
6	chr20:46410772..46417533-chr20:52734712..52743268,16	MCF-7	breast:
7	chr17:57919381..57925904-chr20:52733643..52740812,10	MCF-7	breast:
8	chr17:56704127..56711907-chr20:52729106..52752952,70	MCF-7	breast:
9	chr17:56706370..56714481-chr20:52725604..52746501,43	MCF-7	breast:

No data

No data

No data

Variant related genes	Relation type
ENSG00000201524	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000267280	Chromatin interaction
ENSG00000196562	Chromatin interaction
ENSG00000143952	Chromatin interaction
ENSG00000121068	Chromatin interaction
ENSG00000267131	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs209969	1.00[ASW][hapmap];1.00[CEU][hapmap];0.81[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2585442	0.84[ASN][1000 genomes]
rs2762917	1.00[ASW][hapmap];1.00[CEU][hapmap];0.81[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2762928	0.80[YRI][hapmap]

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	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
2	nsv586280	chr20:52718555-52758416	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	84 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52725000-52740200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr20:52728200-52737600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr20:52730800-52738000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr20:52732000-52739400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr20:52732200-52739400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr20:52732400-52738200	Weak transcription	NHDF-Ad	bronchial
7	chr20:52732400-52738200	Weak transcription	Osteobl	bone
8	chr20:52732400-52738800	Enhancers	HepG2	liver
9	chr20:52732600-52738000	Weak transcription	Hela-S3	cervix
10	chr20:52733000-52738000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr20:52733000-52738200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr20:52733000-52738800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr20:52733000-52739400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr20:52733400-52738600	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr20:52733400-52739800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr20:52735000-52735600	Enhancers	HMEC	breast
17	chr20:52735400-52735600	Enhancers	Fetal Kidney	kidney
18	chr20:52735400-52736600	Enhancers	A549	lung
19	chr20:52735400-52737800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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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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