Variant report

Variant	rs2111470
Chromosome Location	chr2:56563270-56563271
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10166638	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10173561	0.94[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs10178971	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.91[EUR][1000 genomes]
rs10179998	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs10183017	0.91[JPT][hapmap]
rs10198922	0.83[ASN][1000 genomes]
rs10200099	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10202401	0.90[EUR][1000 genomes]
rs10206915	0.90[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs10460558	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.96[MEX][hapmap];0.92[TSI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12469239	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs1549030	0.82[CHB][hapmap]
rs1978376	0.95[JPT][hapmap]
rs1978377	0.91[JPT][hapmap]
rs1990759	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2058870	0.86[JPT][hapmap]
rs2111472	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2193481	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs2216329	0.92[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2869809	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[EUR][1000 genomes]
rs34092204	0.86[EUR][1000 genomes]
rs3886957	0.95[JPT][hapmap]
rs4141565	0.91[JPT][hapmap]
rs4141566	0.91[JPT][hapmap];0.81[TSI][hapmap]
rs56777938	0.91[EUR][1000 genomes]
rs57973944	0.92[ASN][1000 genomes]
rs6545571	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs6706818	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.96[MEX][hapmap];0.93[MKK][hapmap];0.89[TSI][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6721952	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6722198	0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs6731831	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6736091	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6761258	0.89[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7601878	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs888281	0.82[CHB][hapmap]
rs9917186	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[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	nsv530516	chr2:56447922-56633505	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv874170	chr2:56496589-56590865	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv834093	chr2:56538097-56708677	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1004449	chr2:56538460-56715861	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv874171	chr2:56545845-56727178	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv582032	chr2:56551074-56599354	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56560600-56575400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:56560800-56563400	Weak transcription	Left Ventricle	heart
3	chr2:56561000-56564000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr2:56561200-56564400	Weak transcription	HSMM	muscle
5	chr2:56561800-56563800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr2:56562000-56564400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr2:56562000-56566000	Weak transcription	Fetal Heart	heart
8	chr2:56562000-56566200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:56562200-56563600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr2:56562200-56563600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:56562400-56564000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr2:56562400-56577600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr2:56562600-56564400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr2:56562800-56563600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:56562800-56566000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:56563200-56563600	Weak transcription	Adipose Nuclei	Adipose

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