Variant report

Variant	rs73924573
Chromosome Location	chr2:40425793-40425794
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:40419927..40421772-chr2:40425195..40428157,2	MCF-7	breast:

Extended variants
information (count: 111 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10153786	0.95[AMR][1000 genomes]
rs10167744	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10167955	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10175778	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10176352	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10176641	1.00[ASN][1000 genomes]
rs10183585	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10199306	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10202413	0.96[EUR][1000 genomes]
rs10207018	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10207038	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10490207	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11884718	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11884732	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11885401	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11887546	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11887643	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11889015	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11890878	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11891508	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11891921	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11894296	1.00[ASN][1000 genomes]
rs11894882	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11895025	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11899204	1.00[ASN][1000 genomes]
rs11903986	1.00[ASN][1000 genomes]
rs12329007	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13006841	1.00[ASN][1000 genomes]
rs13383126	1.00[ASN][1000 genomes]
rs13384452	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13385280	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13389962	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13398048	1.00[ASN][1000 genomes]
rs13398809	1.00[ASN][1000 genomes]
rs13400484	1.00[ASN][1000 genomes]
rs13403847	0.97[EUR][1000 genomes]
rs13408531	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13414508	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13428581	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13428681	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1366424	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1428574	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17025234	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17025260	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17025271	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17025453	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17025510	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17025570	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17025628	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17038992	1.00[ASN][1000 genomes]
rs17570537	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1896712	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2033230	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2041827	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28380530	1.00[ASN][1000 genomes]
rs28660667	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs374153	1.00[ASN][1000 genomes]
rs390579	1.00[ASN][1000 genomes]
rs400673	1.00[ASN][1000 genomes]
rs405416	1.00[ASN][1000 genomes]
rs423177	1.00[ASN][1000 genomes]
rs440387	1.00[ASN][1000 genomes]
rs56092525	0.97[EUR][1000 genomes]
rs6704907	1.00[ASN][1000 genomes]
rs6720270	1.00[ASN][1000 genomes]
rs6728644	1.00[ASN][1000 genomes]
rs6729089	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6758015	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6760003	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71439287	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73924568	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73926129	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73926130	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73927124	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs741320	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7562916	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7563045	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7563290	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7563445	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7567178	1.00[ASN][1000 genomes]
rs7570501	1.00[ASN][1000 genomes]
rs7570522	1.00[ASN][1000 genomes]
rs7575693	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7575802	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7583602	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7589951	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7601672	1.00[ASN][1000 genomes]
rs7601991	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7602006	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7602342	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7602377	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7605482	1.00[ASN][1000 genomes]
rs7607992	1.00[ASN][1000 genomes]
rs9309053	1.00[ASN][1000 genomes]
rs9653516	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv873902	chr2:40231282-40466268	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1004092	chr2:40264608-40451701	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1000572	chr2:40271958-40458911	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv535654	chr2:40271958-40458911	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv581502	chr2:40273903-40459645	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv873904	chr2:40292289-40466268	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv873910	chr2:40391907-40466268	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv1851152	chr2:40393223-40512023	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv2763455	chr2:40416373-40433420	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv1001866	chr2:40416373-40433420	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv581503	chr2:40417012-40430611	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv581504	chr2:40418386-40430611	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv526425	chr2:40418386-40447587	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv526074	chr2:40423454-40451724	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40400600-40426800	Weak transcription	Osteobl	bone
2	chr2:40405400-40430000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr2:40416000-40425800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr2:40417200-40430400	Weak transcription	Aorta	Aorta
5	chr2:40418200-40447200	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr2:40418600-40445800	Weak transcription	Dnd41	blood
7	chr2:40419200-40436600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr2:40420400-40426200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:40420600-40430000	Weak transcription	NHLF	lung
10	chr2:40420800-40428800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:40421200-40429200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:40422000-40435200	Weak transcription	Fetal Kidney	kidney
13	chr2:40422200-40430000	Weak transcription	Left Ventricle	heart
14	chr2:40422600-40436400	Weak transcription	Right Ventricle	heart
15	chr2:40423600-40426800	Enhancers	HSMM	muscle
16	chr2:40424000-40427000	Genic enhancers	Fetal Heart	heart
17	chr2:40424600-40430000	Weak transcription	Fetal Brain Male	brain
18	chr2:40424600-40430400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr2:40424800-40426400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:40424800-40426800	Weak transcription	Colon Smooth Muscle	Colon
21	chr2:40424800-40429800	Weak transcription	Fetal Brain Female	brain
22	chr2:40425000-40425800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr2:40425200-40425800	Weak transcription	HSMMtube	muscle
24	chr2:40425200-40426400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:40425200-40430000	Weak transcription	Fetal Muscle Leg	muscle
26	chr2:40425400-40433400	Weak transcription	Primary monocytes fromperipheralblood	blood

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