Variant report

Variant	rs896681
Chromosome Location	chr8:124198033-124198034
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:124197929-124198092	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:124178373..124181219-chr8:124197748..124199927,3	K562	blood:
2	chr8:124197444..124199510-chr8:124205893..124207940,2	MCF-7	breast:
3	chr8:124193902..124196809-chr8:124197225..124200638,5	K562	blood:
4	chr8:124197941..124199469-chr8:124208231..124210357,2	K562	blood:
5	chr8:124092154..124093656-chr8:124196525..124198676,2	K562	blood:
6	chr8:124193902..124195805-chr8:124197225..124199510,3	K562	blood:

No data

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

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11779971	0.88[CHB][hapmap]
rs11780863	0.86[ASN][1000 genomes]
rs11783554	0.88[CHB][hapmap]
rs1563015	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs1563016	0.86[CHB][hapmap]
rs1670171	0.93[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs1670173	0.86[CHB][hapmap];0.88[JPT][hapmap]
rs1670174	0.85[EUR][1000 genomes]
rs1670178	0.84[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap]
rs1713738	0.84[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap]
rs17322971	0.85[CHB][hapmap]
rs17323019	0.85[CHB][hapmap]
rs17375962	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs17376270	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs17376305	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs17377283	0.86[CHB][hapmap]
rs2385072	0.86[CHB][hapmap]
rs3107193	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs3107194	0.84[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap];0.80[EUR][1000 genomes]
rs3739291	0.86[CHB][hapmap];0.84[ASN][1000 genomes]
rs4300008	0.86[CHB][hapmap]
rs62521842	0.96[ASN][1000 genomes]
rs62521844	0.98[ASN][1000 genomes]
rs6987091	0.86[CHB][hapmap]
rs6987128	0.86[CHB][hapmap]
rs6987216	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs7008277	0.86[CHB][hapmap]
rs7011195	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs7822076	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs7833092	0.82[CHB][hapmap]
rs9643179	0.86[CHB][hapmap]

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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs896681	FAM83A-AS1	cis	Esophagus Mucosa	GTEx

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	chr8:124196200-124198800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr8:124196200-124199600	Transcr. at gene 5' and 3'	K562	blood
5	chr8:124196400-124199600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:124196800-124199600	Transcr. at gene 5' and 3'	Hela-S3	cervix
7	chr8:124197000-124201000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr8:124197200-124198600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:124197600-124201400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:124197800-124199200	Active TSS	Esophagus	oesophagus
11	chr8:124198000-124198400	Genic enhancers	NHEK	skin
12	chr8:124198000-124198600	Enhancers	HMEC	breast
13	chr8:124198000-124198800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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