Variant report

Variant	rs1520435
Chromosome Location	chr2:50671250-50671251
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10182151	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10191436	0.85[CEU][hapmap];0.86[MEX][hapmap]
rs10194754	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10865246	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11125300	0.85[CEU][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap]
rs11125301	0.85[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap]
rs11125304	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12465806	0.85[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs12472592	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12622261	0.85[CEU][hapmap];0.82[MEX][hapmap]
rs13382330	0.96[CEU][hapmap]
rs13394447	0.81[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs1402122	0.85[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs1402126	0.85[CEU][hapmap]
rs1402129	0.85[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];0.86[MEX][hapmap]
rs1402167	0.89[CEU][hapmap];0.81[CHD][hapmap];0.89[GIH][hapmap];0.82[JPT][hapmap]
rs1520450	0.81[CEU][hapmap]
rs1520452	0.81[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs1520453	0.85[CEU][hapmap]
rs1818713	0.85[CEU][hapmap]
rs1829534	0.81[CEU][hapmap];0.86[MEX][hapmap]
rs1851013	0.92[CEU][hapmap]
rs1851014	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs1879319	0.82[JPT][hapmap]
rs1915169	0.85[AMR][1000 genomes]
rs1915174	0.85[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap]
rs1949569	0.85[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs1996669	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2037387	0.85[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap]
rs2139628	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2160444	0.96[CEU][hapmap];0.88[CHB][hapmap];0.91[CHD][hapmap];0.96[GIH][hapmap];0.82[JPT][hapmap];0.98[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35125023	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4031833	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4318425	0.81[CEU][hapmap];0.82[MEX][hapmap]
rs4971669	0.81[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs4971675	0.96[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6545167	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs6545169	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6545170	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6721052	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6728741	0.86[CHB][hapmap];0.81[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap]
rs6736016	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6739297	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7559624	0.81[CEU][hapmap]
rs7574552	0.85[CEU][hapmap];0.86[MEX][hapmap]
rs7577661	0.85[CEU][hapmap];0.82[MEX][hapmap]
rs7587241	0.95[CEU][hapmap]
rs7607203	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs939399	0.92[CEU][hapmap]
rs939400	0.92[CEU][hapmap]
rs9678669	0.86[MEX][hapmap]
rs985919	1.00[JPT][hapmap];0.82[MEX][hapmap]
rs9917332	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[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	nsv492164	chr2:50399251-51029090	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1000653	chr2:50417660-51083470	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv535693	chr2:50417660-51083470	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv948548	chr2:50569117-50695100	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv948361	chr2:50611076-50785178	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv933786	chr2:50628354-50780185	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1010510	chr2:50649641-51011565	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv535694	chr2:50649641-51011565	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50669600-50673000	Enhancers	Hela-S3	cervix
2	chr2:50670200-50671400	Enhancers	Stomach Mucosa	stomach
3	chr2:50671000-50672400	Enhancers	Brain Germinal Matrix	brain
4	chr2:50671000-50675200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:50671200-50671400	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr2:50671200-50671600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:50671200-50672400	Enhancers	Cortex derived primary cultured neurospheres	brain

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