Variant report

Variant	rs868274
Chromosome Location	chr2:180430419-180430420
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10169569	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11674582	1.00[JPT][hapmap]
rs11683272	1.00[JPT][hapmap]
rs11688895	1.00[JPT][hapmap]
rs11894850	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12693194	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12991713	1.00[JPT][hapmap]
rs12997546	0.82[ASN][1000 genomes]
rs13030456	1.00[JPT][hapmap]
rs13035596	1.00[JPT][hapmap]
rs1399692	0.92[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1515297	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1515298	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs16866782	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17816271	1.00[JPT][hapmap]
rs2203459	0.84[CEU][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2222032	0.85[JPT][hapmap]
rs3112926	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3112931	0.92[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3112933	0.82[ASN][1000 genomes]
rs4267476	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4530328	1.00[JPT][hapmap]
rs56201866	0.82[ASN][1000 genomes]
rs62179171	0.82[ASN][1000 genomes]
rs6433796	1.00[JPT][hapmap]
rs6722937	0.86[JPT][hapmap]
rs713463	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7579911	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs868271	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs868272	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs868273	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs999000	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875470	chr2:180400021-180432529	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	esv2760587	chr2:180409470-180430552	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1008996	chr2:180418199-180430552	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180415800-180432400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:180427400-180430600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:180427400-180436400	Weak transcription	Psoas Muscle	Psoas
4	chr2:180428000-180434000	Weak transcription	HepG2	liver
5	chr2:180428000-180435200	Weak transcription	Fetal Kidney	kidney
6	chr2:180428200-180432400	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr2:180429000-180432800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:180430000-180431200	Enhancers	HSMMtube	muscle
9	chr2:180430400-180434200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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