Variant report

Variant	rs12065835
Chromosome Location	chr1:171324896-171324897
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	chr1:171289560..171292319-chr1:171321362..171324920,3	K562	blood:

Variant related genes	Relation type
ENSG00000076258	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12076180	1.00[AMR][1000 genomes]
rs12117599	0.83[EUR][1000 genomes]
rs12119640	1.00[EUR][1000 genomes]
rs12120784	1.00[EUR][1000 genomes]
rs12121703	1.00[EUR][1000 genomes]
rs12122309	1.00[EUR][1000 genomes]
rs12130175	0.91[EUR][1000 genomes]
rs12131722	0.91[EUR][1000 genomes]
rs12138802	0.83[EUR][1000 genomes]
rs12141357	1.00[CEU][hapmap];0.85[GIH][hapmap]
rs12142448	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs12142487	1.00[EUR][1000 genomes]
rs12145368	1.00[CEU][hapmap];0.85[GIH][hapmap]
rs16864434	0.83[EUR][1000 genomes]
rs45446504	1.00[AMR][1000 genomes]
rs60349465	0.83[EUR][1000 genomes]
rs61342270	1.00[AMR][1000 genomes]
rs6667529	0.83[EUR][1000 genomes]
rs6674434	1.00[EUR][1000 genomes]
rs6674736	1.00[CEU][hapmap];1.00[GIH][hapmap];0.83[TSI][hapmap];0.91[EUR][1000 genomes]
rs6675911	1.00[EUR][1000 genomes]
rs6699345	1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs74122842	1.00[AMR][1000 genomes]
rs7516764	0.83[EUR][1000 genomes]
rs7518815	1.00[EUR][1000 genomes]
rs7525073	1.00[EUR][1000 genomes]
rs7545776	0.83[EUR][1000 genomes]
rs7548898	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001228	chr1:170885787-171452579	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv10193	chr1:171128845-171414611	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv831882	chr1:171166224-171326083	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1002423	chr1:171294384-171376936	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv548188	chr1:171308832-171371998	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171322000-171325400	Weak transcription	Liver	Liver
2	chr1:171322200-171325000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:171323800-171327800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr1:171324800-171325400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:171324800-171325400	Enhancers	NH-A	brain
6	chr1:171324800-171325600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links