Variant report

Variant	rs62521842
Chromosome Location	chr8:124196394-124196395
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	UBTF	chr8:124196366-124197157	K562	blood:	n/a	n/a
2	MAX	chr8:124196376-124196609	Hela-S3	cervix:	n/a	n/a
3	NR2F2	chr8:124196090-124196866	K562	blood:	n/a	n/a
4	RCOR1	chr8:124196312-124196443	K562	blood:	n/a	n/a
5	POLR2A	chr8:124196309-124197941	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:124194480..124197339-chr8:124228010..124229599,2	MCF-7	breast:
2	chr8:124194984..124197268-chr8:124286516..124288692,3	MCF-7	breast:
3	chr8:124193513..124196464-chr8:124251453..124254770,3	MCF-7	breast:
4	chr8:124190429..124191957-chr8:124195125..124197218,2	K562	blood:

No data

No data

No data

Variant related genes	Relation type
ENSG00000221461	TF binding region
ENSG00000253258	TF binding region
ENSG00000266324	Chromatin interaction
ENSG00000189376	Chromatin interaction
ENSG00000165156	Chromatin interaction
ENSG00000147689	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11780863	0.86[ASN][1000 genomes]
rs1670171	0.91[ASN][1000 genomes]
rs1670173	0.81[ASN][1000 genomes]
rs3739291	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62521844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs896681	0.96[ASN][1000 genomes]
rs9643179	0.84[EUR][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	nsv1032827	chr8:123668081-124270400	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv529364	chr8:123763846-124373809	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv1015249	chr8:124103504-124373949	Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv539741	chr8:124103504-124373949	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124193400-124241200	Weak transcription	Right Atrium	heart
2	chr8:124194600-124197600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr8:124194800-124196400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:124194800-124196400	Active TSS	NHEK	skin
5	chr8:124194800-124197400	Active TSS	Esophagus	oesophagus
6	chr8:124195000-124196800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:124195000-124201800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr8:124195600-124197200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:124195800-124196400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:124196200-124196800	Flanking Active TSS	Hela-S3	cervix
11	chr8:124196200-124197000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr8:124196200-124198000	Flanking Active TSS	HMEC	breast
13	chr8:124196200-124198800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:124196200-124199600	Transcr. at gene 5' and 3'	K562	blood

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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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