Variant report

Variant	rs1713733
Chromosome Location	chr8:124199458-124199459
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:124199080-124199692	K562	blood:	n/a	n/a
2	POLR2A	chr8:124199019-124200023	K562	blood:	n/a	n/a
3	POLR2A	chr8:124199302-124199628	K562	blood:	n/a	n/a

No data

(count:5 , 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	chr8:124193902..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: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10096350	0.88[CEU][hapmap]
rs10505430	0.88[CEU][hapmap];1.00[GIH][hapmap];0.85[EUR][1000 genomes]
rs11988157	0.88[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.85[EUR][1000 genomes]
rs11992152	0.88[CEU][hapmap]
rs13259806	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs13260626	0.82[EUR][1000 genomes]
rs13260775	0.82[EUR][1000 genomes]
rs13260798	0.88[CEU][hapmap];1.00[GIH][hapmap];0.82[EUR][1000 genomes]
rs13261021	0.82[EUR][1000 genomes]
rs13261066	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs13261100	0.82[EUR][1000 genomes]
rs16898043	1.00[GIH][hapmap]
rs16898076	0.86[CEU][hapmap]
rs16898084	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs16898086	0.88[CEU][hapmap];1.00[GIH][hapmap];0.85[EUR][1000 genomes]
rs16898088	0.88[CEU][hapmap];1.00[GIH][hapmap];0.85[EUR][1000 genomes]
rs16898095	0.88[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.85[EUR][1000 genomes]
rs16898097	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs1713732	0.87[AMR][1000 genomes]
rs17315999	1.00[GIH][hapmap]
rs17316158	1.00[GIH][hapmap]
rs17323510	0.88[CEU][hapmap];1.00[GIH][hapmap]
rs2602001	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28542077	0.85[EUR][1000 genomes]
rs28624331	0.85[EUR][1000 genomes]
rs28694222	0.85[EUR][1000 genomes]
rs4282551	0.88[CEU][hapmap];1.00[GIH][hapmap]
rs4377946	0.88[CEU][hapmap]
rs57322232	0.85[EUR][1000 genomes]
rs58116120	0.85[EUR][1000 genomes]
rs58741168	0.85[EUR][1000 genomes]
rs59601467	0.85[EUR][1000 genomes]
rs60362869	0.82[EUR][1000 genomes]
rs62521841	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6988636	0.88[CEU][hapmap];1.00[GIH][hapmap]
rs7002021	0.88[CEU][hapmap]
rs9987357	0.88[CEU][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

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	chr8:124196200-124199600	Transcr. at gene 5' and 3'	K562	blood
4	chr8:124196400-124199600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:124196800-124199600	Transcr. at gene 5' and 3'	Hela-S3	cervix
6	chr8:124197000-124201000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:124197600-124201400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:124198600-124199800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:124198600-124201200	Weak transcription	HMEC	breast
10	chr8:124198800-124199600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:124198800-124200600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:124198800-124200600	Strong transcription	NHEK	skin
13	chr8:124199200-124199600	Transcr. at gene 5' and 3'	Esophagus	oesophagus

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