Variant report

Variant	rs2010533
Chromosome Location	chr2:95929713-95929714
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	chr2:95927845..95930509-chr2:95932043..95934098,3	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10195614	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1104775	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12992066	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17119148	0.90[EUR][1000 genomes]
rs1875402	0.88[EUR][1000 genomes]
rs1966272	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2001254	0.87[EUR][1000 genomes]
rs2098768	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2320339	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2320621	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2320624	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3105102	0.85[EUR][1000 genomes]
rs3105104	0.87[EUR][1000 genomes]
rs3105105	0.89[EUR][1000 genomes]
rs3112221	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3112222	0.81[EUR][1000 genomes]
rs3112223	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3112225	0.84[EUR][1000 genomes]
rs3112228	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3112229	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3112230	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3112231	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3112995	0.88[EUR][1000 genomes]
rs3112996	0.88[EUR][1000 genomes]
rs3112997	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3112999	0.85[EUR][1000 genomes]
rs3113000	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3113001	0.89[EUR][1000 genomes]
rs3772044	0.82[EUR][1000 genomes]
rs4854247	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4854249	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6719098	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6725821	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7585914	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7586229	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817258	chr2:95618109-96340788	Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv1008945	chr2:95745367-96062107	Weak transcription Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv817299	chr2:95799814-96159275	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv1007627	chr2:95878031-95973743	Enhancers ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv535822	chr2:95878031-95973743	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv998370	chr2:95897299-96074071	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv535823	chr2:95897299-96074071	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv998014	chr2:95913278-96296630	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 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	chr2:95924000-95941200	Weak transcription	Right Ventricle	heart
2	chr2:95924400-95941400	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr2:95925400-95933200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:95925600-95953800	Weak transcription	Right Atrium	heart
5	chr2:95925800-95934000	Weak transcription	Spleen	Spleen
6	chr2:95926800-95933400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:95926800-95939400	Weak transcription	Esophagus	oesophagus
8	chr2:95926800-95953600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr2:95927400-95930600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:95927800-95930000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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