Variant report

Variant	rs2286189
Chromosome Location	chr7:84687835-84687836
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs1016027	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10225455	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10231441	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10237102	0.85[EUR][1000 genomes]
rs10260131	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10261725	0.85[EUR][1000 genomes]
rs10268216	0.80[EUR][1000 genomes]
rs10271823	0.80[EUR][1000 genomes]
rs10277834	0.84[EUR][1000 genomes]
rs10281252	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10486845	0.84[EUR][1000 genomes]
rs10486847	0.91[EUR][1000 genomes]
rs11760335	0.85[EUR][1000 genomes]
rs11771699	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11980498	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11980984	0.85[EUR][1000 genomes]
rs11982720	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12112643	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12113270	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12154971	0.85[EUR][1000 genomes]
rs12155292	0.85[EUR][1000 genomes]
rs12707691	0.83[EUR][1000 genomes]
rs12707692	0.84[EUR][1000 genomes]
rs12707695	0.84[EUR][1000 genomes]
rs12707696	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13231019	0.83[EUR][1000 genomes]
rs13231340	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13232789	0.80[EUR][1000 genomes]
rs13233871	0.84[EUR][1000 genomes]
rs13234489	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13234914	0.84[EUR][1000 genomes]
rs13240751	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13242253	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13307855	0.82[EUR][1000 genomes]
rs1468396	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1534566	0.86[AMR][1000 genomes]
rs17558957	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17559084	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17559978	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17639510	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17639600	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1919282	0.84[EUR][1000 genomes]
rs2040954	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2040957	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2158727	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2190211	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2190213	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2214820	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2240393	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2286185	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2286190	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2372510	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2372511	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34004921	0.84[EUR][1000 genomes]
rs34134012	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34931062	0.85[EUR][1000 genomes]
rs34996468	0.84[EUR][1000 genomes]
rs35003658	0.85[EUR][1000 genomes]
rs35367762	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35600623	0.84[EUR][1000 genomes]
rs35826544	0.84[EUR][1000 genomes]
rs35853835	0.84[EUR][1000 genomes]
rs35948002	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4141132	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56039102	0.85[EUR][1000 genomes]
rs57531424	0.85[EUR][1000 genomes]
rs59006756	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62472078	0.81[EUR][1000 genomes]
rs62472110	0.85[EUR][1000 genomes]
rs62472151	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6468010	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6959903	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6962714	0.83[EUR][1000 genomes]
rs6965396	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs713154	0.84[EUR][1000 genomes]
rs7780675	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7788896	0.84[EUR][1000 genomes]
rs7793649	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7794920	0.84[EUR][1000 genomes]
rs7800072	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7803548	0.84[EUR][1000 genomes]
rs7809383	0.84[EUR][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	nsv949446	chr7:84003501-84763823	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv2422324	chr7:84530290-84944913	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
3	nsv916645	chr7:84678606-85420011	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv869255	chr7:84678606-85444155	Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1032610	chr7:84683282-84725413	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:84656200-84694800	Weak transcription	Fetal Stomach	stomach
2	chr7:84676400-84694800	Weak transcription	Colon Smooth Muscle	Colon
3	chr7:84678400-84689800	Weak transcription	Aorta	Aorta
4	chr7:84679200-84692600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:84680400-84694600	Weak transcription	Fetal Kidney	kidney
6	chr7:84684000-84700000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:84684400-84695000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:84684800-84689800	Weak transcription	Fetal Lung	lung
9	chr7:84685800-84695600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:84687400-84695200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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