Variant report

Variant	rs316213
Chromosome Location	chr5:96385163-96385164
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:96384327..96386471-chr5:96392508..96394475,2	K562	blood:
2	chr5:96189537..96191977-chr5:96384132..96387078,2	K562	blood:

Variant related genes	Relation type
ENSG00000213701	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10043135	0.85[CHB][hapmap];0.92[CHD][hapmap];0.84[JPT][hapmap]
rs10463198	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11748432	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11954059	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs12109525	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12110061	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13165925	0.90[ASN][1000 genomes]
rs178396	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs186413	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2544769	0.80[CHB][hapmap]
rs2544776	0.81[ASN][1000 genomes]
rs316201	0.85[CHB][hapmap];0.92[CHD][hapmap];0.84[JPT][hapmap]
rs316206	0.96[CEU][hapmap];0.84[TSI][hapmap];0.87[EUR][1000 genomes]
rs316207	0.96[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.84[TSI][hapmap];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs316208	0.96[CEU][hapmap];0.86[TSI][hapmap];0.86[EUR][1000 genomes]
rs316209	0.96[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs316210	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs316211	0.96[CEU][hapmap];0.84[TSI][hapmap];0.87[EUR][1000 genomes]
rs316219	0.85[CHB][hapmap]
rs316220	0.81[CHB][hapmap]
rs316224	0.82[ASN][1000 genomes]
rs316233	0.85[CHB][hapmap];0.92[CHD][hapmap];0.84[JPT][hapmap]
rs316234	0.85[CHB][hapmap];0.92[CHD][hapmap];0.84[JPT][hapmap]
rs389536	0.81[ASN][1000 genomes]
rs392723	0.82[ASN][1000 genomes]
rs445037	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6861399	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7719380	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]

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	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv598962	chr5:96057891-96893164	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv949058	chr5:96082433-96390619	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96383000-96386400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:96383600-96385600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:96384600-96385400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr5:96384600-96385800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr5:96385000-96386600	Enhancers	Fetal Muscle Leg	muscle

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