Variant report

Variant	rs34280527
Chromosome Location	chr2:149170465-149170466
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10167314	0.90[ASN][1000 genomes]
rs10176383	0.94[ASN][1000 genomes]
rs10191789	0.90[ASN][1000 genomes]
rs10198939	0.84[ASN][1000 genomes]
rs10199369	0.93[ASN][1000 genomes]
rs10199719	0.93[ASN][1000 genomes]
rs10928395	0.84[ASN][1000 genomes]
rs11686180	0.93[ASN][1000 genomes]
rs12464334	0.93[ASN][1000 genomes]
rs12464361	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12465493	0.93[ASN][1000 genomes]
rs12469720	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12478120	0.84[ASN][1000 genomes]
rs12613727	0.90[ASN][1000 genomes]
rs12615490	0.84[ASN][1000 genomes]
rs12616001	0.84[ASN][1000 genomes]
rs12691792	0.90[ASN][1000 genomes]
rs12992721	0.84[ASN][1000 genomes]
rs13017424	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13427268	0.83[ASN][1000 genomes]
rs1404186	0.93[ASN][1000 genomes]
rs1404187	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2140606	0.90[ASN][1000 genomes]
rs35253184	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35630407	0.84[ASN][1000 genomes]
rs35997635	0.93[ASN][1000 genomes]
rs62183965	0.83[AMR][1000 genomes]
rs6723914	0.84[ASN][1000 genomes]
rs6745934	0.82[ASN][1000 genomes]
rs6748825	0.84[ASN][1000 genomes]
rs6749083	0.93[ASN][1000 genomes]
rs7355758	0.90[ASN][1000 genomes]
rs7425880	0.84[ASN][1000 genomes]
rs7607930	0.84[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	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
2	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
3	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
4	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
5	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
6	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
7	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
8	esv2751831	chr2:149151358-150105603	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
9	nsv1000101	chr2:149165813-149361220	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:149148600-149178400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:149154400-149172000	Weak transcription	Primary B cells from cord blood	blood
3	chr2:149162400-149171400	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr2:149169800-149171800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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