Variant report

Variant	rs12094899
Chromosome Location	chr1:185916419-185916420
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:185903575..185906332-chr1:185912345..185916534,4	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10047250	1.00[EUR][1000 genomes]
rs10157843	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10911783	0.93[AMR][1000 genomes]
rs10911784	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10911787	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1116146	0.91[EUR][1000 genomes]
rs11580879	0.91[EUR][1000 genomes]
rs11586768	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11586771	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11589455	0.91[EUR][1000 genomes]
rs12059676	1.00[EUR][1000 genomes]
rs12062879	1.00[EUR][1000 genomes]
rs12068829	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12073492	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12077084	0.91[EUR][1000 genomes]
rs12088513	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1322361	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1407427	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28535260	0.91[EUR][1000 genomes]
rs28792457	0.84[EUR][1000 genomes]
rs35875123	0.91[EUR][1000 genomes]
rs6425011	1.00[EUR][1000 genomes]
rs6662653	0.91[EUR][1000 genomes]
rs6675465	0.91[EUR][1000 genomes]
rs72718862	0.91[EUR][1000 genomes]
rs72718864	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718865	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718867	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718875	0.91[EUR][1000 genomes]
rs72718880	0.91[EUR][1000 genomes]

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	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	esv3424090	chr1:185679718-186270877	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185895200-185932200	Weak transcription	Aorta	Aorta
2	chr1:185908600-185925200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:185913200-185917000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr1:185913200-185921800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr1:185913800-185916600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr1:185914000-185916600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr1:185914600-185917000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr1:185915400-185917400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr1:185916400-185916800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:185916400-185916800	Enhancers	HUES6 Cell Line	embryonic stem cell

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