Variant report

Variant	rs2291720
Chromosome Location	chr3:23237189-23237190
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:23237186..23240059-chr3:23244524..23247449,2	K562	blood:

Variant related genes	Relation type
ENSG00000182247	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10510537	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs13063986	0.88[JPT][hapmap]
rs13077333	0.89[ASN][1000 genomes]
rs13083654	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs13084327	0.86[JPT][hapmap]
rs13087234	1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs13089963	0.83[ASN][1000 genomes]
rs13095887	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13095960	0.81[ASN][1000 genomes]
rs13098494	0.85[JPT][hapmap]
rs1495132	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17012823	0.88[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17012834	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17012844	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17012852	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17012861	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17012897	0.91[ASN][1000 genomes]
rs17012927	0.88[CHB][hapmap];0.86[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17012943	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17012959	1.00[ASW][hapmap];0.88[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17012969	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17012988	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17012998	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17013003	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs17013023	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs17013026	1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs17013029	1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17013035	0.88[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs17013049	0.96[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs17013104	0.88[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17013116	0.88[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs17013125	0.88[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17013128	0.88[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17013152	1.00[ASW][hapmap];0.81[CHD][hapmap];0.88[JPT][hapmap];0.88[MEX][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17345745	0.81[CHD][hapmap];0.88[JPT][hapmap]
rs2014132	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34239585	0.94[ASN][1000 genomes]
rs34259979	0.94[ASN][1000 genomes]
rs34646795	0.83[ASN][1000 genomes]
rs35743404	0.94[ASN][1000 genomes]
rs36004369	0.95[ASN][1000 genomes]
rs58844120	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59365170	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60709653	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044305	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73044309	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73044318	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044329	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73044337	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73044339	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73050236	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73050238	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73050257	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73050270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73050276	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999882	chr3:23121533-23257718	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv834636	chr3:23138653-23301443	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23231200-23237400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr3:23235800-23237200	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr3:23237000-23237600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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