Variant report

Variant	rs72720915
Chromosome Location	chr1:180482649-180482650
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:180482613..180485194-chr1:180487657..180489880,2	MCF-7	breast:
2	chr1:180478572..180480804-chr1:180482569..180485229,3	K562	blood:
3	chr1:180476735..180478497-chr1:180482619..180484583,3	K562	blood:

Variant related genes	Relation type
ENSG00000206905	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10737342	0.83[ASN][1000 genomes]
rs10798752	0.83[ASN][1000 genomes]
rs10798753	0.83[ASN][1000 genomes]
rs10798754	0.83[ASN][1000 genomes]
rs10798761	0.83[ASN][1000 genomes]
rs10798767	0.84[ASN][1000 genomes]
rs10798770	0.82[ASN][1000 genomes]
rs10798771	0.81[ASN][1000 genomes]
rs10913969	0.86[ASN][1000 genomes]
rs10913970	0.86[ASN][1000 genomes]
rs10913994	0.91[ASN][1000 genomes]
rs10914002	0.84[ASN][1000 genomes]
rs10914007	0.90[ASN][1000 genomes]
rs10914014	0.80[ASN][1000 genomes]
rs10914017	0.81[ASN][1000 genomes]
rs12024156	0.85[ASN][1000 genomes]
rs12034669	0.91[ASN][1000 genomes]
rs12039933	0.92[ASN][1000 genomes]
rs12041620	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12045123	0.91[ASN][1000 genomes]
rs12085808	0.91[ASN][1000 genomes]
rs12091722	0.90[ASN][1000 genomes]
rs12142124	0.84[ASN][1000 genomes]
rs12402815	0.90[ASN][1000 genomes]
rs12403665	0.90[ASN][1000 genomes]
rs12404209	0.89[ASN][1000 genomes]
rs12405902	0.90[ASN][1000 genomes]
rs12407122	0.91[ASN][1000 genomes]
rs12691484	0.83[ASN][1000 genomes]
rs12733492	0.80[ASN][1000 genomes]
rs1341924	0.90[ASN][1000 genomes]
rs1416823	0.83[ASN][1000 genomes]
rs1418102	0.83[ASN][1000 genomes]
rs16856086	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1890731	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1970400	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2105232	0.82[ASN][1000 genomes]
rs28506072	0.93[ASN][1000 genomes]
rs2877399	0.83[ASN][1000 genomes]
rs2877415	0.89[ASN][1000 genomes]
rs3737584	0.91[ASN][1000 genomes]
rs3806300	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3806301	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4424469	0.83[ASN][1000 genomes]
rs4436345	0.83[ASN][1000 genomes]
rs4483365	0.83[ASN][1000 genomes]
rs4543756	0.90[ASN][1000 genomes]
rs4562579	0.84[ASN][1000 genomes]
rs4593778	0.84[ASN][1000 genomes]
rs4642852	0.83[ASN][1000 genomes]
rs4652495	0.82[ASN][1000 genomes]
rs4652496	0.83[ASN][1000 genomes]
rs4652498	0.83[ASN][1000 genomes]
rs4652499	0.83[ASN][1000 genomes]
rs55874160	0.83[ASN][1000 genomes]
rs60286873	0.92[ASN][1000 genomes]
rs6425625	0.83[ASN][1000 genomes]
rs6425634	0.90[ASN][1000 genomes]
rs6425641	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6425644	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6657492	0.82[ASN][1000 genomes]
rs6659513	0.83[ASN][1000 genomes]
rs6661208	0.83[ASN][1000 genomes]
rs6678216	0.83[ASN][1000 genomes]
rs6680368	0.84[ASN][1000 genomes]
rs6687442	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6687549	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6699585	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6704334	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6704437	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72720917	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720922	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7521151	0.85[EUR][1000 genomes]
rs7526189	0.90[ASN][1000 genomes]
rs7538219	0.83[ASN][1000 genomes]
rs7538303	0.83[ASN][1000 genomes]
rs7539910	0.83[ASN][1000 genomes]
rs7544585	0.83[ASN][1000 genomes]
rs822706	0.80[ASN][1000 genomes]
rs9701037	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9726041	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9730180	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003739	chr1:180027760-180483292	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv535217	chr1:180027760-180483292	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv2762200	chr1:180300936-180493841	ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
4	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
5	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180472800-180488800	Weak transcription	Right Atrium	heart
2	chr1:180478800-180483400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:180481600-180485200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr1:180481800-180491200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr1:180482000-180485200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr1:180482000-180485400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr1:180482600-180482800	Enhancers	K562	blood
8	chr1:180482600-180483000	Enhancers	HepG2	liver
9	chr1:180482600-180485200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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