Variant report

Variant	rs4687971
Chromosome Location	chr3:118862535-118862536
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	STAT3	chr3:118862499-118862678	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:118860786..118863641-chr3:119040567..119042267,2	MCF-7	breast:

Variant related genes	Relation type
C3orf30	TF binding region
ENSG00000251012	TF binding region
ENSG00000241155	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs2903300	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[EUR][1000 genomes]
rs4266184	0.88[EUR][1000 genomes]
rs4299470	0.88[EUR][1000 genomes]
rs4337633	0.94[YRI][hapmap]
rs4444702	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs4446195	0.88[EUR][1000 genomes]
rs4446196	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs4544604	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs4687966	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[EUR][1000 genomes]
rs4687969	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs4687974	0.93[YRI][hapmap]
rs4687975	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs6438486	0.88[EUR][1000 genomes]
rs6438491	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[EUR][1000 genomes]
rs6438498	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs6792013	0.84[EUR][1000 genomes]
rs6802690	0.88[EUR][1000 genomes]
rs9816004	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs9823555	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs9833418	0.94[YRI][hapmap]
rs9864127	0.82[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs9864893	0.81[AFR][1000 genomes];0.88[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	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv2756586	chr3:118688611-118863998	Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv829692	chr3:118727772-118901711	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv18354	chr3:118855337-119000251	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:118860600-118864400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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