Variant report

Variant	rs7793723
Chromosome Location	chr7:66086655-66086656
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:66086058..66091828-chr7:66092043..66096410,8	K562	blood:
2	chr7:66086645..66090963-chr7:66091966..66094682,7	K562	blood:
3	chr7:66085871..66088222-chr7:66108390..66110154,2	K562	blood:

Variant related genes	Relation type
ENSG00000243335	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 15 )

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10107	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10265311	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10271548	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10274883	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10278014	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10950043	0.88[ASN][1000 genomes]
rs10950046	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10950050	0.81[EUR][1000 genomes]
rs11761542	0.84[EUR][1000 genomes]
rs11765791	0.82[ASN][1000 genomes]
rs11772819	0.84[EUR][1000 genomes]
rs11772884	0.82[AMR][1000 genomes]
rs12333370	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12668005	0.82[ASN][1000 genomes]
rs12673450	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12698526	0.87[ASN][1000 genomes]
rs13226170	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13226966	0.84[EUR][1000 genomes]
rs13232191	0.88[ASN][1000 genomes]
rs13240501	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13242290	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13308803	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13536	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17747530	0.90[ASN][1000 genomes]
rs1860469	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1860472	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1968126	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2013908	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2024192	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2109295	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2109297	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2420610	0.90[ASN][1000 genomes]
rs2420611	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2420821	0.84[AMR][1000 genomes]
rs2659890	0.85[EUR][1000 genomes]
rs2659891	0.85[EUR][1000 genomes]
rs2659892	0.85[EUR][1000 genomes]
rs2659893	0.85[EUR][1000 genomes]
rs2659896	0.83[EUR][1000 genomes]
rs2659898	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2659901	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2659907	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2659908	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2707824	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2707837	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2707847	0.85[EUR][1000 genomes]
rs28431318	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28480509	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28714531	0.87[ASN][1000 genomes]
rs28731376	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35378740	0.88[ASN][1000 genomes]
rs3846973	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3857685	0.83[ASN][1000 genomes]
rs3926380	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4506088	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4717315	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4718377	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4718383	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58347342	0.84[EUR][1000 genomes]
rs61348003	0.84[ASN][1000 genomes]
rs6460303	0.87[ASN][1000 genomes]
rs66981195	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6951302	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6951946	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6955837	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6971059	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6973249	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6978178	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs721717	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7384021	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7385102	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7782587	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7800620	0.84[EUR][1000 genomes]
rs7805152	0.83[EUR][1000 genomes]
rs7808013	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs801194	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs801195	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs801202	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs801203	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs801204	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs801206	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs801208	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs801209	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs801215	0.88[ASN][1000 genomes]
rs881285	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9791712	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9791713	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[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	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	nsv1035107	chr7:65814901-66114919	Genic enhancers Strong transcription ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv538909	chr7:65814901-66114919	Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

mRNA abundance (count:15)

SNP	Gene	Cis/trans	Tissue	Source
rs7793723	RP4-756H11.3	cis	Nerve Tibial	GTEx
rs7793723	LINC00174	cis	Thyroid	GTEx
rs7793723	RP4-756H11.3	cis	lung	GTEx
rs7793723	RNU6-96P	cis	Thyroid	GTEx
rs7793723	GS1-124K5.11	cis	Thyroid	GTEx
rs7793723	RP4-756H11.3	cis	Esophagus Muscularis	GTEx
rs7793723	RP4-756H11.3	cis	Muscle Skeletal	GTEx
rs7793723	GTF2IRD1P1	cis	Thyroid	GTEx
rs7793723	GS1-124K5.4	cis	Skin Sun Exposed Lower leg	GTEx
rs7793723	RP4-756H11.3	cis	Skin Sun Exposed Lower leg	GTEx
rs7793723	RP4-756H11.3	cis	Adipose Subcutaneous	GTEx
rs7793723	ASL	Cis_1M	lymphoblastoid	RTeQTL
rs7793723	RP4-756H11.3	cis	Thyroid	GTEx
rs7793723	RP4-756H11.3	cis	Artery Tibial	GTEx
rs7793723	RP4-756H11.3	cis	Heart Left Ventricle	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66084800-66087200	Weak transcription	K562	blood
2	chr7:66085000-66090800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr7:66085200-66090200	Weak transcription	HepG2	liver
4	chr7:66085600-66089800	Weak transcription	Placenta	Placenta

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