Variant report

Variant	rs59858985
Chromosome Location	chr2:100965108-100965109
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:100948850..100951101-chr2:100963212..100965519,2	K562	blood:
2	chr2:100935867..100940254-chr2:100962502..100969736,6	MCF-7	breast:
3	chr2:100948850..100951479-chr2:100963772..100965519,2	K562	blood:

Variant related genes	Relation type
ENSG00000170500	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10172841	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10180685	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10183063	0.88[ASN][1000 genomes]
rs1057056	0.93[ASN][1000 genomes]
rs1057063	0.90[ASN][1000 genomes]
rs1124009	0.86[ASN][1000 genomes]
rs13400841	0.88[ASN][1000 genomes]
rs1437972	0.95[ASN][1000 genomes]
rs17024034	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17024209	0.82[ASN][1000 genomes]
rs1898573	0.98[ASN][1000 genomes]
rs2083148	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2309801	0.88[ASN][1000 genomes]
rs3748936	0.93[ASN][1000 genomes]
rs3791358	0.88[ASN][1000 genomes]
rs4149506	0.86[ASN][1000 genomes]
rs4149509	0.93[ASN][1000 genomes]
rs4149514	0.90[ASN][1000 genomes]
rs4149515	0.90[ASN][1000 genomes]
rs4149516	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4850932	0.93[ASN][1000 genomes]
rs55932868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56741959	0.93[ASN][1000 genomes]
rs57862179	0.86[ASN][1000 genomes]
rs58164864	0.93[ASN][1000 genomes]
rs58674788	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59701896	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60468180	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60566188	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61710328	0.93[ASN][1000 genomes]
rs6542933	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6542945	0.95[ASN][1000 genomes]
rs6542946	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6706707	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6725672	0.93[ASN][1000 genomes]
rs6728575	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6736938	0.88[ASN][1000 genomes]
rs6738566	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6739589	0.90[ASN][1000 genomes]
rs6749572	0.93[ASN][1000 genomes]
rs6754869	0.93[ASN][1000 genomes]
rs6755285	0.93[ASN][1000 genomes]
rs6758622	0.93[ASN][1000 genomes]
rs6761084	0.88[ASN][1000 genomes]
rs73966105	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73966106	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73968413	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7559084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7561065	0.93[ASN][1000 genomes]
rs7562184	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7562636	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7562754	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7565502	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7567130	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7571410	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7571651	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7571659	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7575422	0.93[ASN][1000 genomes]
rs7582096	0.88[ASN][1000 genomes]
rs7585713	0.88[ASN][1000 genomes]
rs7596483	0.93[ASN][1000 genomes]
rs7598205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7598227	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7605834	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs876439	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv834311	chr2:100816917-100990036	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv582531	chr2:100908508-101207639	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100956800-100967200	Weak transcription	Gastric	stomach
2	chr2:100963400-100966800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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