Variant report

Variant	rs2139628
Chromosome Location	chr2:50680101-50680102
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10168838	1.00[YRI][hapmap]
rs10182151	0.96[CEU][hapmap];0.89[EUR][1000 genomes]
rs10191436	0.85[CEU][hapmap]
rs10194754	0.90[EUR][1000 genomes]
rs10865246	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11125300	0.85[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs11125301	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11125304	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12465806	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12472592	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12622261	0.85[CEU][hapmap]
rs13382330	0.96[CEU][hapmap]
rs13394447	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1402122	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1402129	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs1402167	0.89[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap]
rs1520435	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]
rs1520452	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17040612	1.00[YRI][hapmap]
rs17040616	1.00[YRI][hapmap]
rs1829534	0.81[CEU][hapmap]
rs1851013	0.92[CEU][hapmap]
rs1851014	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1879319	0.82[JPT][hapmap]
rs1915174	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1949569	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1996669	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2037387	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2160444	0.96[CEU][hapmap];0.82[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35125023	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4031833	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4318425	0.81[CEU][hapmap]
rs4971669	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4971675	0.96[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6545167	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6545169	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6545170	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6721052	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6728741	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6736016	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6739297	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7574552	0.85[CEU][hapmap]
rs7577661	0.85[CEU][hapmap]
rs7587241	0.96[CEU][hapmap]
rs7607203	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs939399	0.92[CEU][hapmap]
rs939400	0.92[CEU][hapmap]
rs939425	1.00[YRI][hapmap]
rs985919	1.00[JPT][hapmap]
rs9917332	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
9	nsv532650	chr2:50675808-51136752	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50673800-50684200	Weak transcription	Fetal Brain Male	brain
2	chr2:50677400-50683200	Weak transcription	Brain Germinal Matrix	brain

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