Variant report

Variant	rs12478120
Chromosome Location	chr2:149128717-149128718
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10164630	0.88[ASN][1000 genomes]
rs10167314	0.88[ASN][1000 genomes]
rs10176383	0.86[ASN][1000 genomes]
rs10181225	0.91[ASN][1000 genomes]
rs10188234	0.91[ASN][1000 genomes]
rs10191789	0.93[ASN][1000 genomes]
rs10198939	0.99[ASN][1000 genomes]
rs10199369	0.90[ASN][1000 genomes]
rs10199719	0.90[ASN][1000 genomes]
rs10208839	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10928395	0.99[ASN][1000 genomes]
rs11678688	0.89[CEU][hapmap];0.84[JPT][hapmap];0.83[YRI][hapmap];0.82[EUR][1000 genomes]
rs11686180	0.90[ASN][1000 genomes]
rs12463713	0.82[EUR][1000 genomes]
rs12464334	0.90[ASN][1000 genomes]
rs12464361	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12465493	0.90[ASN][1000 genomes]
rs12469720	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12470061	0.80[EUR][1000 genomes]
rs12613727	0.93[ASN][1000 genomes]
rs12615490	0.99[ASN][1000 genomes]
rs12616001	0.99[ASN][1000 genomes]
rs12618358	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12691792	0.93[ASN][1000 genomes]
rs12992721	0.99[ASN][1000 genomes]
rs13427268	0.97[ASN][1000 genomes]
rs1404185	0.91[ASN][1000 genomes]
rs1404186	0.90[ASN][1000 genomes]
rs1404187	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1453317	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1453318	0.84[JPT][hapmap]
rs17276501	0.83[EUR][1000 genomes]
rs1916960	0.90[ASN][1000 genomes]
rs2140606	0.93[ASN][1000 genomes]
rs2167880	0.84[EUR][1000 genomes]
rs2602352	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2602358	0.82[EUR][1000 genomes]
rs2656317	0.85[EUR][1000 genomes]
rs2656319	0.82[EUR][1000 genomes]
rs2656320	0.82[EUR][1000 genomes]
rs2656324	0.82[EUR][1000 genomes]
rs2656325	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2938705	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34280527	0.84[ASN][1000 genomes]
rs35177340	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35630407	0.99[ASN][1000 genomes]
rs35997635	0.90[ASN][1000 genomes]
rs4972355	0.80[EUR][1000 genomes]
rs4972358	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62183965	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6708633	0.90[ASN][1000 genomes]
rs6723914	0.99[ASN][1000 genomes]
rs6734448	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6745934	0.98[ASN][1000 genomes]
rs6748825	0.99[ASN][1000 genomes]
rs6749083	0.90[ASN][1000 genomes]
rs7355758	0.93[ASN][1000 genomes]
rs7425880	0.99[ASN][1000 genomes]
rs7567204	0.91[ASN][1000 genomes]
rs7592019	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7606618	0.91[ASN][1000 genomes]
rs7607930	0.99[ASN][1000 genomes]
rs869595	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs949679	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009608	chr2:148897348-149133718	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv2753542	chr2:149004714-149268503	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1012275	chr2:149031668-149316793	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1012123	chr2:149078500-149151358	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv583289	chr2:149091754-149170115	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv875277	chr2:149094415-149178974	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv875278	chr2:149094415-149201775	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv875279	chr2:149111470-149201775	Enhancers ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv875280	chr2:149115432-149198275	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv875281	chr2:149115432-149206943	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv583290	chr2:149117734-149170115	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:149100800-149137000	Weak transcription	Primary T cells from cord blood	blood
2	chr2:149102800-149136600	Weak transcription	Primary B cells from cord blood	blood
3	chr2:149120400-149128800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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