Variant report

Variant	rs7814186
Chromosome Location	chr8:124200924-124200925
allele	A/T
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	POLR2A	chr8:124200430-124202418	K562	blood:	n/a	n/a
2	POLR2A	chr8:124200658-124200950	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:124193208..124195115-chr8:124200419..124201954,2	MCF-7	breast:
2	chr8:124200423..124202125-chr8:124203574..124206282,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253410	TF binding region
ENSG00000147689	Chromatin interaction
ENSG00000253258	Chromatin interaction
ENSG00000253410	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11779458	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11779971	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11782844	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11783554	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11786273	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13270162	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13271849	0.88[EUR][1000 genomes]
rs16898130	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17377283	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17377409	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34704426	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34947160	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35456955	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55724085	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62521846	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62521847	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62521850	0.91[EUR][1000 genomes]
rs6997530	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6997717	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6997816	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7003842	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71514800	0.91[EUR][1000 genomes]
rs7812683	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7813460	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7813708	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7814154	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7817153	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7817345	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7833092	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9693914	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[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	chr8:124195000-124201800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr8:124197000-124201000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:124197600-124201400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:124198600-124201200	Weak transcription	HMEC	breast
6	chr8:124199600-124201600	Strong transcription	Esophagus	oesophagus
7	chr8:124199800-124201600	Strong transcription	Hela-S3	cervix
8	chr8:124199800-124206400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:124199800-124216600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:124200400-124201000	Strong transcription	K562	blood
11	chr8:124200600-124201600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:124200600-124201600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr8:124200600-124201600	Genic enhancers	NHEK	skin

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