Variant report

Variant	rs2178236
Chromosome Location	chr7:84578731-84578732
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 126 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:121)

rs_ID	r²[population]
rs1016027	0.91[EUR][1000 genomes]
rs10225455	0.95[EUR][1000 genomes]
rs10231441	0.93[EUR][1000 genomes]
rs10237102	0.93[EUR][1000 genomes]
rs10244898	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10247311	0.91[EUR][1000 genomes]
rs10256889	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10260131	0.81[EUR][1000 genomes]
rs10261725	0.93[EUR][1000 genomes]
rs10264465	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10267189	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10268216	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10271823	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10277834	0.91[EUR][1000 genomes]
rs10281252	0.94[EUR][1000 genomes]
rs10282482	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10486845	0.91[EUR][1000 genomes]
rs11760335	0.93[EUR][1000 genomes]
rs11766179	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11771699	0.82[EUR][1000 genomes]
rs11980498	0.93[EUR][1000 genomes]
rs11980984	0.93[EUR][1000 genomes]
rs11982720	0.81[EUR][1000 genomes]
rs12112643	0.81[EUR][1000 genomes]
rs12113270	0.81[EUR][1000 genomes]
rs12154971	0.93[EUR][1000 genomes]
rs12155292	0.93[EUR][1000 genomes]
rs12707691	0.93[EUR][1000 genomes]
rs12707692	0.94[EUR][1000 genomes]
rs12707693	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12707695	0.94[EUR][1000 genomes]
rs12707696	0.91[EUR][1000 genomes]
rs13230423	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13231019	0.93[EUR][1000 genomes]
rs13231340	0.94[EUR][1000 genomes]
rs13232515	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13232613	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13232789	0.90[EUR][1000 genomes]
rs13233871	0.94[EUR][1000 genomes]
rs13234489	0.93[EUR][1000 genomes]
rs13234914	0.94[EUR][1000 genomes]
rs13240751	0.89[EUR][1000 genomes]
rs13242253	0.81[EUR][1000 genomes]
rs13244179	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13307855	0.92[EUR][1000 genomes]
rs1468396	0.91[EUR][1000 genomes]
rs1528621	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1534565	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1534566	0.85[EUR][1000 genomes]
rs1534572	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17159470	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17558957	0.93[EUR][1000 genomes]
rs17559084	0.91[EUR][1000 genomes]
rs17559978	0.80[EUR][1000 genomes]
rs17639510	0.93[EUR][1000 genomes]
rs17639600	0.91[EUR][1000 genomes]
rs1919282	0.94[EUR][1000 genomes]
rs2040954	0.83[EUR][1000 genomes]
rs2040957	0.95[EUR][1000 genomes]
rs2103312	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2141415	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2158727	0.83[EUR][1000 genomes]
rs2190211	0.80[EUR][1000 genomes]
rs2240393	0.93[EUR][1000 genomes]
rs2286185	0.93[EUR][1000 genomes]
rs2286190	0.81[EUR][1000 genomes]
rs2372503	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2372510	0.80[EUR][1000 genomes]
rs2372511	0.80[EUR][1000 genomes]
rs28819164	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34004921	0.94[EUR][1000 genomes]
rs34134012	0.90[EUR][1000 genomes]
rs34462522	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34584772	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34931062	0.93[EUR][1000 genomes]
rs34996468	0.94[EUR][1000 genomes]
rs35003658	0.93[EUR][1000 genomes]
rs35367762	0.81[EUR][1000 genomes]
rs35449238	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35600623	0.94[EUR][1000 genomes]
rs35826544	0.91[EUR][1000 genomes]
rs35853835	0.94[EUR][1000 genomes]
rs4141132	0.93[EUR][1000 genomes]
rs4560742	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56039102	0.93[EUR][1000 genomes]
rs56227953	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57531424	0.93[EUR][1000 genomes]
rs62472060	0.92[EUR][1000 genomes]
rs62472062	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62472078	0.91[EUR][1000 genomes]
rs62472081	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62472087	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62472088	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62472110	0.93[EUR][1000 genomes]
rs62472151	0.83[EUR][1000 genomes]
rs6468010	0.83[EUR][1000 genomes]
rs6959903	0.94[EUR][1000 genomes]
rs6962714	0.90[EUR][1000 genomes]
rs6965396	0.93[EUR][1000 genomes]
rs713153	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs713154	0.94[EUR][1000 genomes]
rs71560707	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7776699	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7777682	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7780675	0.95[EUR][1000 genomes]
rs7788896	0.94[EUR][1000 genomes]
rs7790637	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7790809	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7793649	0.94[EUR][1000 genomes]
rs7794144	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7794619	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7794920	0.94[EUR][1000 genomes]
rs7798487	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7800072	0.90[EUR][1000 genomes]
rs7801626	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7803548	0.94[EUR][1000 genomes]
rs7807283	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7809383	0.94[EUR][1000 genomes]
rs7811476	0.81[EUR][1000 genomes]
rs9642196	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9942642	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[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	nsv529344	chr7:83714286-84592857	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	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
3	esv34238	chr7:84279023-84591966	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	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
5	nsv1032638	chr7:84550206-84603392	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 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	chr7:84577000-84579200	Weak transcription	HSMMtube	muscle
2	chr7:84577800-84578800	Enhancers	NHDF-Ad	bronchial
3	chr7:84578000-84578800	Enhancers	Muscle Satellite Cultured Cells	--
4	chr7:84578000-84578800	Enhancers	HUVEC	blood vessel
5	chr7:84578200-84582400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:84578400-84578800	Enhancers	NHEK	skin
7	chr7:84578600-84579000	Weak transcription	HSMM	muscle
8	chr7:84578600-84579600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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