Variant report

Variant	rs2602001
Chromosome Location	chr8:124195974-124195975
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr8:124193887-124195982	K562	blood:	n/a	n/a
2	GATA1	chr8:124193404-124196129	K562	blood:	n/a	chr8:124194598-124194605 chr8:124194591-124194612 chr8:124194598-124194607 chr8:124193676-124193685 chr8:124194598-124194605 chr8:124194875-124194884 chr8:124194597-124194607 chr8:124194598-124194605 chr8:124194594-124194610 chr8:124194866-124194883

No.	Distal block	Cell Line	Cell type
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:

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

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10505430	0.88[EUR][1000 genomes]
rs11988157	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11992152	0.81[EUR][1000 genomes]
rs13259806	0.85[EUR][1000 genomes]
rs13260626	0.85[EUR][1000 genomes]
rs13260775	0.85[EUR][1000 genomes]
rs13260798	0.85[EUR][1000 genomes]
rs13261021	0.85[EUR][1000 genomes]
rs13261066	0.85[EUR][1000 genomes]
rs13261100	0.85[EUR][1000 genomes]
rs16898084	0.85[EUR][1000 genomes]
rs16898086	0.88[EUR][1000 genomes]
rs16898088	0.88[EUR][1000 genomes]
rs16898095	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16898097	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1713732	0.93[AMR][1000 genomes]
rs1713733	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28542077	0.88[EUR][1000 genomes]
rs28624331	0.88[EUR][1000 genomes]
rs28694222	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57322232	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57902736	0.81[EUR][1000 genomes]
rs58116120	0.88[EUR][1000 genomes]
rs58741168	0.88[EUR][1000 genomes]
rs59601467	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs60362869	0.85[EUR][1000 genomes]
rs62521841	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[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:13 , 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	chr8:124194800-124196200	Active TSS	Hela-S3	cervix
4	chr8:124194800-124196200	Active TSS	K562	blood
5	chr8:124194800-124196400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:124194800-124196400	Active TSS	NHEK	skin
7	chr8:124194800-124197400	Active TSS	Esophagus	oesophagus
8	chr8:124195000-124196800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:124195000-124201800	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr8:124195600-124197200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:124195800-124196200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr8:124195800-124196200	Active TSS	HMEC	breast
13	chr8:124195800-124196400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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