Variant report

Variant	rs10267317
Chromosome Location	chr7:66636827-66636828
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10155890	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10155918	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10155972	0.83[EUR][1000 genomes]
rs10155983	0.82[EUR][1000 genomes]
rs10156209	0.80[EUR][1000 genomes]
rs10229408	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10231586	0.90[AFR][1000 genomes]
rs10235588	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs10243217	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs10246747	0.84[AFR][1000 genomes]
rs10247133	0.84[AFR][1000 genomes]
rs10250113	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs10250487	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs10251763	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs10252143	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10253339	0.84[AFR][1000 genomes]
rs10256139	0.82[EUR][1000 genomes]
rs10257949	0.82[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs10262150	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs10267300	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10270292	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs10272347	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs10272591	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs10280559	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10280699	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11760347	0.80[EUR][1000 genomes]
rs11761100	0.80[EUR][1000 genomes]
rs11773274	0.81[EUR][1000 genomes]
rs11773730	0.82[EUR][1000 genomes]
rs12154409	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12154419	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12155044	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12155051	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17139656	0.82[EUR][1000 genomes]
rs1965479	0.84[AFR][1000 genomes]
rs2421419	0.80[EUR][1000 genomes]
rs2690170	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs28366417	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2844157	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28534521	0.80[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs28651697	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3015884	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs3107871	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34145691	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs34317556	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34344363	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34654147	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35048638	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs35877378	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs36108108	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs3962076	0.80[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs3980767	0.84[EUR][1000 genomes]
rs4101640	0.84[EUR][1000 genomes]
rs4295533	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs4551224	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs4552791	0.87[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4559131	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4618581	0.80[EUR][1000 genomes]
rs4621684	0.80[EUR][1000 genomes]
rs4717353	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs4718463	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs4718464	0.84[EUR][1000 genomes]
rs4718469	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs4718470	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs4718471	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs55756354	0.80[EUR][1000 genomes]
rs66734104	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs67855845	0.85[EUR][1000 genomes]
rs71535637	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs71535638	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs71563178	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs71563180	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73140602	0.85[EUR][1000 genomes]
rs73142604	0.85[EUR][1000 genomes]
rs7804802	0.87[AFR][1000 genomes]
rs9654771	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs9654851	0.82[AFR][1000 genomes]
rs9654853	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs9654854	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758118	chr7:66401430-66859253	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv2759535	chr7:66401430-66859253	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv888330	chr7:66502171-66877880	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
4	nsv831019	chr7:66516808-66720485	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	9 gene(s)	inside rSNPs	diseases
5	esv1832033	chr7:66601324-66637001	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
6	esv1822512	chr7:66613751-66637001	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	n/a	n/a	inside rSNPs	diseases
7	esv1826252	chr7:66613751-66637001	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases
8	esv2422035	chr7:66621964-66676630	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv1800770	chr7:66629329-66645232	Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv1831418	chr7:66629329-66645232	Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv1831706	chr7:66629329-66645232	Weak transcription Enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv441983	chr7:66629329-66645232	Weak transcription Enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs10267317	TYW1	cis	Muscle Skeletal	GTEx
rs10267317	GS1-124K5.4	cis	Nerve Tibial	GTEx
rs10267317	TYW1	cis	Nerve Tibial	GTEx
rs10267317	TYW1	cis	Esophagus Mucosa	GTEx
rs10267317	TYW1	Cis_1M	lymphoblastoid	RTeQTL
rs10267317	TYW1	cis	Heart Left Ventricle	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66621600-66672000	Weak transcription	Fetal Intestine Large	intestine
2	chr7:66628600-66684600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr7:66629000-66650200	Weak transcription	Fetal Thymus	thymus
4	chr7:66636800-66637000	Weak transcription	GM12878-XiMat	blood

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