Variant report

Variant	rs7771590
Chromosome Location	chr6:27467896-27467897
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:27444179..27448029-chr6:27462358..27468433,6	K562	blood:

Extended variants
information (count: 102 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs1014227	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10452601	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10484398	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10807024	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10807025	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10946916	0.83[EUR][1000 genomes]
rs10946919	0.89[ASN][1000 genomes]
rs10946920	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10946921	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10946931	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10946932	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10946933	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11970336	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12199110	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12206045	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12212293	0.88[EUR][1000 genomes]
rs12213598	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12215117	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12524409	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12529839	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13201443	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13201965	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13201985	0.92[ASN][1000 genomes]
rs13212050	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13215560	0.99[ASN][1000 genomes]
rs13217162	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13217248	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13217798	0.85[EUR][1000 genomes]
rs13220155	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1883216	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2049944	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2049945	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2092120	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2092121	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2092122	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2103557	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2142705	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2179154	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2205831	0.89[ASN][1000 genomes]
rs2235252	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2235254	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2272814	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2272815	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2272816	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2294308	0.99[ASN][1000 genomes]
rs2294309	0.99[ASN][1000 genomes]
rs2893917	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35394453	0.91[ASN][1000 genomes]
rs4478400	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4711153	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4713104	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4713105	0.92[ASN][1000 genomes]
rs4713106	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4713107	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4713109	0.99[ASN][1000 genomes]
rs62401365	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6456786	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6456788	0.86[ASN][1000 genomes]
rs6456789	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6650992	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6899950	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6903282	0.98[ASN][1000 genomes]
rs6904844	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6911865	0.99[ASN][1000 genomes]
rs6918131	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6918794	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6920010	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6920408	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6920733	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6921071	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6931659	0.95[ASN][1000 genomes]
rs6933354	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6938689	0.81[EUR][1000 genomes]
rs726830	0.86[ASN][1000 genomes]
rs7509	0.90[ASN][1000 genomes]
rs764460	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs764461	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7741031	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7743443	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7743465	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7744110	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7745380	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7747283	0.88[EUR][1000 genomes]
rs7748366	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7750795	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7754678	0.89[ASN][1000 genomes]
rs7754724	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7754977	0.85[EUR][1000 genomes]
rs7756216	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7756377	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7764070	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7764634	0.88[ASN][1000 genomes]
rs7772160	0.89[ASN][1000 genomes]
rs7774613	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7776338	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9461386	0.86[ASN][1000 genomes]
rs9468140	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9468141	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022797	chr6:27396961-27864277	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	390 gene(s)	inside rSNPs	diseases
2	nsv830617	chr6:27424769-27598595	Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv462665	chr6:27458013-27547792	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv601203	chr6:27458013-27547792	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs7771590	ZNF391	cis	Artery Tibial	GTEx
rs7771590	BRP44	trans	lymphoblastoid	RTeQTL
rs7771590	ZNF391	cis	Heart Left Ventricle	GTEx
rs7771590	ZNF391	cis	Nerve Tibial	GTEx
rs7771590	ZNF391	cis	Esophagus Muscularis	GTEx
rs7771590	ZNF391	cis	lung	GTEx
rs7771590	ZNF391	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27463800-27470200	Weak transcription	Right Atrium	heart
2	chr6:27464000-27468200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:27464000-27469200	Weak transcription	Hela-S3	cervix
4	chr6:27464000-27469400	Weak transcription	HMEC	breast
5	chr6:27464000-27469800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:27464200-27468000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr6:27464200-27468200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr6:27464200-27468200	Weak transcription	K562	blood
9	chr6:27466200-27470200	Weak transcription	Pancreas	Pancrea
10	chr6:27467800-27468600	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr6:27467800-27468600	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr6:27467800-27468600	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr6:27467800-27472000	Active TSS	HUES6 Cell Line	embryonic stem cell

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