Variant report

Variant	rs62520922
Chromosome Location	chr8:124622164-124622165
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr8:124621729-124622196	K562	blood:	n/a	n/a
2	EP300	chr8:124622072-124622234	K562	blood:	n/a	n/a
3	MAFK	chr8:124622011-124622284	K562	blood:	n/a	n/a
4	JUND	chr8:124622066-124622188	K562	blood:	n/a	n/a
5	MAFF	chr8:124622044-124622230	K562	blood:	n/a	n/a
6	MAZ	chr8:124622000-124622266	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:124621170..124625679-chr8:124625859..124629573,5	K562	blood:
2	chr8:124621417..124623503-chr8:124631883..124634146,2	MCF-7	breast:
3	chr8:124619293..124622384-chr8:124622665..124625911,4	MCF-7	breast:

No data

No data

No data

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10956138	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11991567	0.85[ASN][1000 genomes]
rs12547295	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16898637	0.85[ASN][1000 genomes]
rs17255218	0.84[AFR][1000 genomes]
rs62520925	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6470163	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831450	chr8:124471741-124661359	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv612140	chr8:124604759-124738618	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1032155	chr8:124609702-124739559	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr8:124610400-124628000	Weak transcription	Aorta	Aorta
2	chr8:124610400-124630000	Weak transcription	Right Atrium	heart
3	chr8:124619200-124629800	Weak transcription	Ovary	ovary
4	chr8:124620200-124622200	Enhancers	Pancreas	Pancrea
5	chr8:124620800-124622600	Enhancers	K562	blood
6	chr8:124621400-124624000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr8:124621400-124624600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr8:124621800-124622800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:124622000-124624000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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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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