Variant report

Variant	rs2216176
Chromosome Location	chr2:206248616-206248617
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:206248394..206251086-chr2:206251822..206254377,2	MCF-7	breast:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10804148	0.81[ASN][1000 genomes]
rs1207434	0.85[ASN][1000 genomes]
rs1207435	0.86[ASN][1000 genomes]
rs1207436	0.86[ASN][1000 genomes]
rs1207437	0.86[ASN][1000 genomes]
rs1207438	0.86[ASN][1000 genomes]
rs13015412	0.93[ASN][1000 genomes]
rs13017922	0.81[ASN][1000 genomes]
rs13024741	0.81[ASN][1000 genomes]
rs13024952	0.86[ASN][1000 genomes]
rs1606237	0.99[ASN][1000 genomes]
rs1861513	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1990667	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2137176	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2193077	0.92[ASN][1000 genomes]
rs2247282	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2541151	0.86[ASN][1000 genomes]
rs2541152	0.86[ASN][1000 genomes]
rs2541153	0.86[ASN][1000 genomes]
rs2541154	0.86[ASN][1000 genomes]
rs2541160	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2668142	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2668144	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2668145	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2668146	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2668148	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2704644	0.86[ASN][1000 genomes]
rs35550118	0.93[ASN][1000 genomes]
rs35655292	0.99[ASN][1000 genomes]
rs4675512	0.84[ASN][1000 genomes]
rs62171496	0.86[ASN][1000 genomes]
rs849189	0.86[ASN][1000 genomes]
rs849193	0.85[ASN][1000 genomes]
rs849194	0.86[ASN][1000 genomes]
rs849198	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs849200	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs849207	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs849208	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs849216	0.88[ASN][1000 genomes]
rs849218	0.86[ASN][1000 genomes]
rs849219	0.86[ASN][1000 genomes]
rs849220	0.87[ASN][1000 genomes]
rs849221	0.86[ASN][1000 genomes]
rs849222	0.86[ASN][1000 genomes]
rs849223	0.86[ASN][1000 genomes]
rs849224	0.81[ASN][1000 genomes]
rs849250	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs907462	0.93[ASN][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	nsv1012780	chr2:206124954-206546271	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv962519	chr2:206239854-206250466	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
3	nsv584244	chr2:206247450-206378392	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:206248200-206249400	Enhancers	Rectal Smooth Muscle	rectum
2	chr2:206248400-206249000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:206248600-206248800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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