Variant report

Variant	rs11783554
Chromosome Location	chr8:124202184-124202185
allele	C/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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:124193731..124198397-chr8:124202096..124205086,5	MCF-7	breast:

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

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11779458	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11779971	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11782844	0.95[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11786273	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13270162	0.95[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13271849	0.95[CEU][hapmap];0.88[EUR][1000 genomes]
rs1670171	0.81[CHB][hapmap]
rs16898130	1.00[CEU][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17377283	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17377409	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34704426	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34947160	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35456955	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55724085	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62521846	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62521847	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62521850	0.91[EUR][1000 genomes]
rs6997530	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6997717	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6997816	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7003842	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71514800	0.91[EUR][1000 genomes]
rs7812683	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7813460	0.95[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7813708	0.95[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7814154	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7814186	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7817153	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7817345	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7833092	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs896681	0.88[CHB][hapmap]
rs9693914	1.00[CEU][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	esv3412283	chr8:124202171-124206869	Genic enhancers Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124193400-124241200	Weak transcription	Right Atrium	heart
2	chr8:124199800-124206400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:124199800-124216600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:124201000-124205200	Genic enhancers	K562	blood
5	chr8:124201400-124202200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:124201600-124202800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:124201600-124202800	Weak transcription	HMEC	breast
8	chr8:124201600-124203000	Weak transcription	Hela-S3	cervix
9	chr8:124201600-124205000	Weak transcription	Esophagus	oesophagus
10	chr8:124201600-124212600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:124201600-124216000	Strong transcription	NHEK	skin
12	chr8:124201600-124216800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links