Variant report

Variant	rs10246884
Chromosome Location	chr7:137759521-137759522
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	NR2F2	chr7:137758682-137759588	MCF-7	breast:	n/a	n/a
2	GATA3	chr7:137758629-137759614	MCF-7	breast:	n/a	n/a
3	POLR2A	chr7:137759515-137759631	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:137747667..137753748-chr7:137756655..137760355,9	MCF-7	breast:

Variant related genes	Relation type
AKR1D1	TF binding region
ENSG00000221558	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1025967	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10264658	0.92[EUR][1000 genomes]
rs10280394	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10280628	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10954602	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13243992	0.92[EUR][1000 genomes]
rs1424379	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs1424380	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs2120846	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2166188	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2859828	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3757393	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3807332	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4732285	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6945659	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6977075	0.90[CEU][hapmap];0.92[EUR][1000 genomes]
rs6980334	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs7784881	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7787591	0.92[EUR][1000 genomes]
rs7795946	0.91[CEU][hapmap];0.92[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	nsv518070	chr7:137534627-137808839	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv831151	chr7:137711447-137865471	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	esv34048	chr7:137724092-138213119	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
4	nsv437032	chr7:137753091-137773291	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 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	chr7:137757600-137759600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
2	chr7:137757800-137761200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
3	chr7:137758000-137760200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr7:137758600-137759800	Enhancers	HMEC	breast
5	chr7:137758600-137761200	ZNF genes & repeats	HepG2	liver
6	chr7:137759000-137760600	Enhancers	Primary B cells from peripheral blood	blood
7	chr7:137759200-137759600	Enhancers	NHEK	skin
8	chr7:137759200-137760600	ZNF genes & repeats	GM12878-XiMat	blood
9	chr7:137759200-137760800	Enhancers	Liver	Liver
10	chr7:137759200-137761400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:137759200-137762400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:137759400-137760600	Enhancers	Primary B cells from cord blood	blood
13	chr7:137759400-137762400	Weak transcription	Hela-S3	cervix

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