Variant report

Variant	rs2064077
Chromosome Location	chr1:171216897-171216898
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	chr1:171215395..171216956-chr1:171219667..171221307,2	MCF-7	breast:
2	chr1:171216177..171217237-chr1:171282875..171283514,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231424	Chromatin interaction
ENSG00000076258	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10912616	0.93[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12065544	0.96[ASN][1000 genomes]
rs12402732	0.93[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12403890	0.95[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12720462	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16864174	0.93[ASN][1000 genomes]
rs16864177	0.93[ASN][1000 genomes]
rs16864194	0.93[ASN][1000 genomes]
rs16864216	0.95[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1987921	0.99[ASN][1000 genomes]
rs1987944	0.99[ASN][1000 genomes]
rs2020863	0.93[ASN][1000 genomes]
rs2049920	0.93[ASN][1000 genomes]
rs2072755	0.93[ASN][1000 genomes]
rs2075988	0.93[ASN][1000 genomes]
rs2103537	0.81[ASN][1000 genomes]
rs2179106	0.95[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs28369891	0.93[ASN][1000 genomes]
rs28369914	0.93[ASN][1000 genomes]
rs3861947	0.96[ASN][1000 genomes]
rs4073692	0.85[ASN][1000 genomes]
rs4073693	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4622096	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4631734	0.96[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs56370691	0.96[ASN][1000 genomes]
rs57305992	0.93[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs61815363	0.99[ASN][1000 genomes]
rs61815421	0.90[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs61815423	0.89[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs61815424	0.93[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs61815425	0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs61815427	0.93[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs72714167	0.93[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7535210	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7551934	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][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	nsv1005902	chr1:171036690-171254916	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv535203	chr1:171036690-171254916	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	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
6	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

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171200800-171220400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:171211400-171218400	Weak transcription	Fetal Lung	lung
3	chr1:171215800-171220200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr1:171216000-171220000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr1:171216400-171217600	Enhancers	Fetal Intestine Large	intestine
6	chr1:171216600-171217000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:171216600-171217600	Enhancers	Fetal Intestine Small	intestine
8	chr1:171216800-171217000	Enhancers	Pancreas	Pancrea
9	chr1:171216800-171217200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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