Variant report

Variant	rs786216
Chromosome Location	chr2:145713023-145713024
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	chr2:145706300..145709031-chr2:145712643..145714364,2	K562	blood:
2	chr2:145638931..145641686-chr2:145711451..145713690,2	K562	blood:

Variant related genes	Relation type
ENSG00000268580	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10168164	0.92[EUR][1000 genomes]
rs10201023	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10210406	0.90[EUR][1000 genomes]
rs1085418	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10928236	0.94[EUR][1000 genomes]
rs13391247	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13422231	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13427288	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13427617	0.94[EUR][1000 genomes]
rs1406118	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1528187	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1550324	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17407958	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1852654	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1881266	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2165022	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2697042	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2697046	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2918593	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4662407	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4662408	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4662410	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4662412	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs727241	0.91[EUR][1000 genomes]
rs7589880	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7596337	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs786236	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs786238	0.99[EUR][1000 genomes]
rs786240	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs786259	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs786261	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs809252	0.99[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	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv932113	chr2:145515124-145844491	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv834398	chr2:145659419-145830156	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145710000-145722600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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