Variant report

Variant	rs17035291
Chromosome Location	chr12:104579016-104579017
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104577047..104579321-chr12:104581007..104583445,2	MCF-7	breast:
2	chr12:104571005..104572580-chr12:104577210..104579491,2	MCF-7	breast:
3	chr12:104530299..104532759-chr12:104575223..104579205,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000120837	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11111920	0.82[ASN][1000 genomes]
rs11610133	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11610541	0.97[ASN][1000 genomes]
rs11610612	0.87[ASN][1000 genomes]
rs11615168	0.80[ASN][1000 genomes]
rs12300246	0.80[ASN][1000 genomes]
rs12304631	0.82[ASN][1000 genomes]
rs12305190	0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs12307391	0.80[ASN][1000 genomes]
rs12310380	0.89[CEU][hapmap]
rs12313776	0.80[ASN][1000 genomes]
rs12317467	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12318352	0.88[CEU][hapmap];0.82[JPT][hapmap]
rs17035279	0.91[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs3765111	0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs4255604	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4338595	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4964251	0.89[ASN][1000 genomes]
rs59014318	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73394538	0.80[ASN][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	nsv1045725	chr12:104524153-104614108	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	n/a
2	nsv541586	chr12:104524153-104614108	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	n/a
3	esv1842062	chr12:104531180-104638773	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	n/a
4	nsv899493	chr12:104548613-104703228	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers 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	30 gene(s)	inside rSNPs	diseases
5	nsv899494	chr12:104561521-104806232	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104578200-104583600	Weak transcription	Osteobl	bone
2	chr12:104578400-104580200	Enhancers	Rectal Smooth Muscle	rectum
3	chr12:104578400-104581000	Weak transcription	A549	lung
4	chr12:104578600-104580200	Enhancers	Colon Smooth Muscle	Colon
5	chr12:104578600-104581200	Weak transcription	Placenta	Placenta
6	chr12:104578600-104581400	Weak transcription	Pancreas	Pancrea
7	chr12:104579000-104579600	Enhancers	Stomach Smooth Muscle	stomach
8	chr12:104579000-104580400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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