Variant report

Variant	rs73980175
Chromosome Location	chr2:190046349-190046350
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr2:190046201-190046718	MCF-7	breast:	n/a	chr2:190046508-190046517 chr2:190046206-190046217
2	SP1	chr2:190046326-190046974	A549	lung:	n/a	n/a
3	CEBPB	chr2:190046324-190046897	A549	lung:	n/a	n/a
4	EP300	chr2:190046339-190046975	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:190045375..190047744-chr2:190084388..190086686,2	MCF-7	breast:
2	chr2:190039205..190041419-chr2:190045253..190047798,2	MCF-7	breast:
3	chr2:190045305..190048072-chr2:190048606..190050123,2	MCF-7	breast:
4	chr2:190045819..190048610-chr2:190053101..190054817,2	MCF-7	breast:

Variant related genes	Relation type
COL5A2	TF binding region

Extended variants
information (count: 180 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:178)

rs_ID	r²[population]
rs10153543	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10153951	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10166669	1.00[ASN][1000 genomes]
rs10166763	1.00[ASN][1000 genomes]
rs10168736	1.00[ASN][1000 genomes]
rs10169952	1.00[ASN][1000 genomes]
rs10170085	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10172337	1.00[ASN][1000 genomes]
rs10174122	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10174725	1.00[ASN][1000 genomes]
rs10174952	1.00[ASN][1000 genomes]
rs10177339	1.00[ASN][1000 genomes]
rs10177917	1.00[ASN][1000 genomes]
rs10178743	1.00[ASN][1000 genomes]
rs10179002	1.00[ASN][1000 genomes]
rs10179972	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10181872	1.00[ASN][1000 genomes]
rs10182328	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10182531	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10182637	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10184389	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10185003	1.00[ASN][1000 genomes]
rs10185694	1.00[ASN][1000 genomes]
rs10186436	1.00[ASN][1000 genomes]
rs10187336	1.00[ASN][1000 genomes]
rs10187808	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10187975	1.00[ASN][1000 genomes]
rs10188565	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10189469	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10190096	1.00[ASN][1000 genomes]
rs10191409	1.00[ASN][1000 genomes]
rs10191847	1.00[ASN][1000 genomes]
rs10193984	1.00[ASN][1000 genomes]
rs10194834	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10194934	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10196977	1.00[ASN][1000 genomes]
rs10198744	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10201372	1.00[ASN][1000 genomes]
rs10201984	1.00[ASN][1000 genomes]
rs10203516	1.00[ASN][1000 genomes]
rs10203719	1.00[ASN][1000 genomes]
rs10204110	1.00[ASN][1000 genomes]
rs10204767	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10205775	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10206562	1.00[ASN][1000 genomes]
rs10207004	1.00[ASN][1000 genomes]
rs10208917	1.00[ASN][1000 genomes]
rs10209758	1.00[ASN][1000 genomes]
rs10221749	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10221861	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10439311	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10439312	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10469647	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10469738	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10469740	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10931412	1.00[ASN][1000 genomes]
rs10931413	1.00[ASN][1000 genomes]
rs12328504	1.00[ASN][1000 genomes]
rs12328515	1.00[ASN][1000 genomes]
rs12328914	1.00[ASN][1000 genomes]
rs13383723	1.00[ASN][1000 genomes]
rs13387876	1.00[ASN][1000 genomes]
rs13387877	1.00[ASN][1000 genomes]
rs13388039	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13388779	1.00[ASN][1000 genomes]
rs13391841	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13392896	1.00[ASN][1000 genomes]
rs13394718	1.00[ASN][1000 genomes]
rs13396640	1.00[ASN][1000 genomes]
rs13396910	1.00[ASN][1000 genomes]
rs13400624	1.00[ASN][1000 genomes]
rs13402678	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13402923	1.00[ASN][1000 genomes]
rs13405433	1.00[ASN][1000 genomes]
rs13407353	1.00[ASN][1000 genomes]
rs13407566	1.00[ASN][1000 genomes]
rs13409397	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13409960	0.80[AMR][1000 genomes]
rs13413979	1.00[ASN][1000 genomes]
rs13414763	1.00[ASN][1000 genomes]
rs13418443	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13419269	1.00[ASN][1000 genomes]
rs13419984	1.00[ASN][1000 genomes]
rs13420832	1.00[ASN][1000 genomes]
rs13421370	1.00[ASN][1000 genomes]
rs13423429	1.00[ASN][1000 genomes]
rs13423654	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13424586	1.00[ASN][1000 genomes]
rs13425539	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13425989	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13426851	1.00[ASN][1000 genomes]
rs13427092	1.00[ASN][1000 genomes]
rs13427686	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13432036	1.00[ASN][1000 genomes]
rs13432963	1.00[ASN][1000 genomes]
rs28368169	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28414300	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28433254	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28545536	1.00[ASN][1000 genomes]
rs28567040	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28679474	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35852101	1.00[ASN][1000 genomes]
rs55808493	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55819631	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56063417	1.00[ASN][1000 genomes]
rs56900526	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56996340	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57047644	1.00[ASN][1000 genomes]
rs57187765	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57215654	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57398906	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57458325	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57525746	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57598703	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58258584	1.00[ASN][1000 genomes]
rs58396131	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59397955	1.00[ASN][1000 genomes]
rs59506401	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59826931	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59872509	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60056080	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60341298	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60708586	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60863981	1.00[ASN][1000 genomes]
rs61154892	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61625679	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6717036	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6746050	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7355598	1.00[ASN][1000 genomes]
rs73978603	0.89[EUR][1000 genomes]
rs73978605	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73978809	1.00[ASN][1000 genomes]
rs73978810	1.00[ASN][1000 genomes]
rs73978811	1.00[ASN][1000 genomes]
rs73978812	1.00[ASN][1000 genomes]
rs73978820	1.00[ASN][1000 genomes]
rs73978832	1.00[ASN][1000 genomes]
rs73978835	1.00[ASN][1000 genomes]
rs73978855	1.00[ASN][1000 genomes]
rs73978885	1.00[ASN][1000 genomes]
rs73980135	1.00[ASN][1000 genomes]
rs73980165	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980173	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980174	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980177	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980180	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980182	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980183	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980187	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980188	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980190	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980191	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980192	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980193	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980194	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980195	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980196	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980197	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980198	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980199	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980201	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980202	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73982004	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73982007	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73982032	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73982033	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73982034	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73982037	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7558500	1.00[ASN][1000 genomes]
rs7561643	1.00[ASN][1000 genomes]
rs7562592	1.00[ASN][1000 genomes]
rs7566271	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7569974	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7584984	1.00[ASN][1000 genomes]
rs7599676	1.00[ASN][1000 genomes]
rs7609327	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9288164	1.00[ASN][1000 genomes]
rs9808058	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875613	chr2:189999011-190324685	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190045000-190047000	Enhancers	Fetal Intestine Small	intestine
2	chr2:190045000-190048000	Enhancers	Fetal Intestine Large	intestine
3	chr2:190045400-190046600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:190045800-190053000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:190045800-190056600	Weak transcription	HSMM	muscle
6	chr2:190046000-190046400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:190046200-190047000	Flanking Active TSS	A549	lung
8	chr2:190046200-190047200	Enhancers	HepG2	liver

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