Variant report

Variant	rs60516303
Chromosome Location	chr2:99652708-99652709
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:99345574..99348199-chr2:99652477..99654603,2	MCF-7	breast:
2	chr2:99651571..99653300-chr2:99794305..99796617,2	K562	blood:

Variant related genes	Relation type
ENSG00000071073	Chromatin interaction
ENSG00000158411	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10496334	0.83[ASN][1000 genomes]
rs10496335	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11123760	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11123767	0.84[ASN][1000 genomes]
rs12619096	0.89[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs12620997	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17022180	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17022249	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2277876	0.83[ASN][1000 genomes]
rs28794804	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34751553	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35071324	0.84[ASN][1000 genomes]
rs35458525	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3762472	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3791211	0.84[ASN][1000 genomes]
rs4850895	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs56691336	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56926889	0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs57273701	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs57462725	0.91[AFR][1000 genomes]
rs57743480	0.81[AMR][1000 genomes]
rs57998052	1.00[EUR][1000 genomes]
rs58595226	0.85[ASN][1000 genomes]
rs58745514	0.81[ASN][1000 genomes]
rs59243842	0.91[AFR][1000 genomes]
rs59252741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59506582	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs60056452	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs60653099	0.83[ASN][1000 genomes]
rs6749198	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7568749	0.84[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	nsv834310	chr2:99533832-99709999	Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
2	nsv1007718	chr2:99542281-99729107	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv979072	chr2:99613444-99652736	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 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	chr2:99627600-99658800	Weak transcription	Pancreas	Pancrea
2	chr2:99650000-99656800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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