Variant report

Variant	rs6904844
Chromosome Location	chr6:27461501-27461502
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:27438796..27440667-chr6:27460849..27463507,2	K562	blood:
2	chr6:27447854..27450536-chr6:27461434..27464293,2	K562	blood:
3	chr6:27457396..27459337-chr6:27460675..27465171,4	K562	blood:
4	chr6:27459556..27462133-chr6:27512934..27514958,2	K562	blood:

Variant related genes	Relation type
ENSG00000096654	Chromatin interaction

Extended variants
information (count: 101 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs1014227	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10452601	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10484398	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10807024	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10807025	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10946919	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10946920	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10946921	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10946931	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10946932	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10946933	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11970336	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12199110	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12206045	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12212293	0.84[EUR][1000 genomes]
rs12213598	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12215117	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12524409	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12529839	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13201443	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13201965	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13201985	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs13212050	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13215560	0.96[ASN][1000 genomes]
rs13217162	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13217248	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13217798	0.81[EUR][1000 genomes]
rs13220155	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1883216	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2049944	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2049945	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2092120	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2092121	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2092122	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2103557	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2142705	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2179154	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2205831	0.89[ASN][1000 genomes]
rs2235252	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2235254	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2272814	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2272815	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2272816	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2294308	0.96[ASN][1000 genomes]
rs2294309	0.96[ASN][1000 genomes]
rs2893917	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35394453	0.92[ASN][1000 genomes]
rs4478400	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4711153	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4713104	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4713105	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4713106	0.89[ASN][1000 genomes]
rs4713107	0.89[ASN][1000 genomes]
rs4713109	0.96[ASN][1000 genomes]
rs62401365	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6456786	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6456788	0.88[ASN][1000 genomes]
rs6456789	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6456791	0.80[ASN][1000 genomes]
rs6650992	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6899950	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6903282	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6911865	0.96[ASN][1000 genomes]
rs6918131	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6918794	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6920010	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6920408	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6920733	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6921071	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6931659	0.92[ASN][1000 genomes]
rs6933354	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs726830	0.88[ASN][1000 genomes]
rs7509	0.92[ASN][1000 genomes]
rs764460	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs764461	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7741031	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7743443	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7743465	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7744110	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7745380	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7747283	0.84[EUR][1000 genomes]
rs7748366	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7750795	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7754678	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7754724	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7754977	0.81[EUR][1000 genomes]
rs7756216	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7756377	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7764070	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7764634	0.89[ASN][1000 genomes]
rs7771590	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7772160	0.90[ASN][1000 genomes]
rs7774613	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7776338	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9461386	0.85[ASN][1000 genomes]
rs9468140	0.97[ASN][1000 genomes]
rs9468141	0.96[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:8)

SNP	Gene	Cis/trans	Tissue	Source
rs6904844	ZNF391	cis	Nerve Tibial	GTEx
rs6904844	ZNF391	cis	Esophagus Mucosa	GTEx
rs6904844	ZNF391	cis	lung	GTEx
rs6904844	ZNF391	cis	Esophagus Muscularis	GTEx
rs6904844	ZNF391	cis	Artery Tibial	GTEx
rs6904844	BRP44	trans	lymphoblastoid	RTeQTL
rs6904844	ZNF391	cis	Skin Sun Exposed Lower leg	GTEx
rs6904844	ZNF391	cis	Heart Left Ventricle	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27459600-27461800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr6:27459800-27462600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:27461000-27462600	Weak transcription	K562	blood
4	chr6:27461200-27461600	Weak transcription	HepG2	liver

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