Variant report

Variant	rs62528824
Chromosome Location	chr8:125761219-125761220
allele	G/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	chr8:125760544..125764834-chr8:125765682..125769658,5	MCF-7	breast:
2	chr8:125750583..125752595-chr8:125760050..125762806,2	K562	blood:
3	chr8:125759234..125761898-chr8:125763537..125765246,2	K562	blood:
4	chr8:125761135..125763441-chr8:126050388..126052207,2	K562	blood:
5	chr8:125760489..125763327-chr8:125826229..125828714,2	K562	blood:
6	chr8:125758805..125762963-chr8:125825866..125829295,4	K562	blood:
7	chr8:125739372..125742267-chr8:125758626..125761632,3	MCF-7	breast:
8	chr8:125760144..125761703-chr8:125762855..125765412,2	MCF-7	breast:
9	chr8:125759783..125761940-chr8:125763482..125765437,3	K562	blood:

No data

No data

No data

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs56318727	0.93[ASN][1000 genomes]
rs62528794	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs62528795	0.86[ASN][1000 genomes]
rs62528822	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7000805	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7006401	0.86[ASN][1000 genomes]
rs7006585	0.84[ASN][1000 genomes]
rs7815391	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9693828	1.00[AFR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1016502	chr8:125657664-125845074	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
3	nsv891435	chr8:125747374-125764361	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv517427	chr8:125749707-125766271	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125756000-125763800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr8:125756000-125763800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:125756000-125763800	Weak transcription	Osteobl	bone
4	chr8:125759800-125764800	Enhancers	Fetal Heart	heart
5	chr8:125760000-125761400	Weak transcription	Right Atrium	heart
6	chr8:125760400-125764600	Enhancers	K562	blood
7	chr8:125760800-125761800	Enhancers	Fetal Intestine Small	intestine
8	chr8:125760800-125762800	Weak transcription	Primary B cells from cord blood	blood
9	chr8:125761000-125761400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:125761000-125761600	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr8:125761000-125762000	Enhancers	Stomach Mucosa	stomach
12	chr8:125761200-125761400	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr8:125761200-125761600	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr8:125761200-125761800	Enhancers	Esophagus	oesophagus
15	chr8:125761200-125763600	Weak transcription	Fetal Intestine Large	intestine

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

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