Variant report

Variant	rs12085980
Chromosome Location	chr1:114584310-114584311
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:114583212..114585104-chr1:114595811..114597428,2	MCF-7	breast:
2	chr1:114572795..114577655-chr1:114580622..114587867,10	MCF-7	breast:
3	chr1:114577897..114580371-chr1:114581560..114584344,2	MCF-7	breast:
4	chr1:114577056..114579380-chr1:114582977..114584723,3	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11102717	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11102718	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11102723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12060342	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12060704	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12061788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12062241	1.00[AMR][1000 genomes]
rs12076115	1.00[AMR][1000 genomes]
rs12079394	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12087525	1.00[AMR][1000 genomes]
rs12087807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12091375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12094896	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12097968	1.00[AFR][1000 genomes]
rs12098025	1.00[AFR][1000 genomes]
rs57823986	1.00[AMR][1000 genomes]
rs58203825	1.00[AMR][1000 genomes]
rs60420764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60727700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6690665	1.00[AMR][1000 genomes]
rs74112072	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74112073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74112550	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74112551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74112552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74112553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74113350	1.00[AMR][1000 genomes]
rs7515723	1.00[AMR][1000 genomes]
rs7527367	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7529237	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7529814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv2754686	chr1:114531958-114602958	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh 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
3	esv1849780	chr1:114577463-114663164	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114581200-114584800	Weak transcription	Fetal Muscle Leg	muscle
2	chr1:114581600-114585400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr1:114582000-114585400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:114582200-114585200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr1:114582200-114585200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr1:114582800-114584400	Enhancers	Fetal Intestine Large	intestine
7	chr1:114583000-114590400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr1:114583600-114585200	Weak transcription	Spleen	Spleen
9	chr1:114583800-114585200	Weak transcription	Fetal Intestine Small	intestine
10	chr1:114583800-114590200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:114584000-114584800	Enhancers	Monocytes-CD14+_RO01746	blood

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