Variant report

Variant	rs12137788
Chromosome Location	chr1:209497471-209497472
allele	A/G
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	FOS	chr1:209497072-209497516	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr1:209497379-209497643	K562	blood:	n/a	n/a
3	MYC	chr1:209497116-209497629	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr1:209497065-209497511	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:209495782..209497485-chr1:209604602..209606893,2	MCF-7	breast:
2	chr1:208767459..208768963-chr1:209495906..209498403,2	K562	blood:

Variant related genes	Relation type
ENSG00000227940	TF binding region
ENSG00000230937	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12064516	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12116965	0.94[EUR][1000 genomes]
rs12119349	1.00[ASW][hapmap];1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs12119464	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes]
rs12119465	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12120032	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12120757	0.80[EUR][1000 genomes]
rs12121931	0.80[EUR][1000 genomes]
rs12124710	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12125098	1.00[CEU][hapmap]
rs12125358	0.80[EUR][1000 genomes]
rs12126305	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12126769	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12128640	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs12135244	0.90[EUR][1000 genomes]
rs12136870	0.86[EUR][1000 genomes]
rs12137134	0.96[EUR][1000 genomes]
rs12139847	0.90[EUR][1000 genomes]
rs12140172	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs12140436	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs12140751	0.84[EUR][1000 genomes]
rs12144443	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12144663	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs12144725	1.00[CEU][hapmap]
rs12145008	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12145858	0.94[EUR][1000 genomes]
rs13375195	1.00[YRI][hapmap]
rs13375349	1.00[JPT][hapmap]
rs17014365	1.00[YRI][hapmap]
rs6668608	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74155466	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74155471	0.94[EUR][1000 genomes]
rs9804114	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832481	chr1:209371276-209540333	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv832492	chr1:209383771-209589312	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr1:209493000-209498600	Weak transcription	Fetal Brain Male	brain
2	chr1:209493200-209500200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:209496600-209499400	Enhancers	HMEC	breast
4	chr1:209496600-209499600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:209496600-209499800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:209496600-209499800	Enhancers	NHEK	skin
7	chr1:209496600-209500800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr1:209496800-209497600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:209496800-209499400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:209497000-209498600	Weak transcription	Esophagus	oesophagus
11	chr1:209497000-209500200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:209497000-209500400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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