Variant report

Variant	rs1974981
Chromosome Location	chr15:45729123-45729124
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 121 )
Associated
traits (count: 15 )

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs10444821	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1049503	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1049508	1.00[CEU][hapmap];0.93[GIH][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes]
rs10519021	0.82[AMR][1000 genomes]
rs10519022	1.00[CEU][hapmap];0.89[TSI][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11070453	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11070454	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11070456	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11070457	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1145074	0.88[EUR][1000 genomes]
rs1145078	0.87[EUR][1000 genomes]
rs1145079	0.88[EUR][1000 genomes]
rs1145081	0.88[EUR][1000 genomes]
rs1145085	0.88[EUR][1000 genomes]
rs1145091	1.00[CEU][hapmap];0.93[GIH][hapmap];0.89[TSI][hapmap];0.86[EUR][1000 genomes]
rs1153847	0.88[EUR][1000 genomes]
rs1153849	0.93[CEU][hapmap];0.89[GIH][hapmap];0.87[TSI][hapmap];0.88[EUR][1000 genomes]
rs1153854	0.83[EUR][1000 genomes]
rs1153858	1.00[CEU][hapmap];0.91[GIH][hapmap];0.89[TSI][hapmap];0.87[EUR][1000 genomes]
rs11852800	0.82[AMR][1000 genomes]
rs11858495	0.82[AMR][1000 genomes]
rs12101539	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12437840	1.00[CEU][hapmap];0.83[MEX][hapmap];0.89[TSI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12437887	1.00[CEU][hapmap];0.83[MEX][hapmap];0.89[TSI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12439274	0.82[AMR][1000 genomes]
rs12439575	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12440038	1.00[CEU][hapmap];0.83[MEX][hapmap];0.89[TSI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12441971	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12591058	0.82[AMR][1000 genomes]
rs12593230	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12593370	0.94[CEU][hapmap];0.81[AMR][1000 genomes]
rs12593402	0.83[CEU][hapmap];0.82[AMR][1000 genomes]
rs12594857	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12595087	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12595153	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1288775	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs12909158	0.93[CEU][hapmap];0.81[AMR][1000 genomes]
rs1346266	1.00[CEU][hapmap];0.89[GIH][hapmap];0.87[TSI][hapmap];0.88[EUR][1000 genomes]
rs1346268	1.00[CEU][hapmap];0.83[MEX][hapmap];0.89[TSI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1365610	1.00[CEU][hapmap];0.83[MEX][hapmap];0.87[TSI][hapmap]
rs1554521	1.00[CEU][hapmap];0.83[MEX][hapmap];0.89[TSI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16942000	0.82[AMR][1000 genomes]
rs16942568	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16943246	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1719247	0.93[CEU][hapmap];0.88[GIH][hapmap];0.81[TSI][hapmap]
rs1820518	1.00[CEU][hapmap];0.82[MEX][hapmap];0.86[TSI][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1890565	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1980288	0.93[CEU][hapmap];0.81[AMR][1000 genomes]
rs2056493	1.00[CEU][hapmap];0.89[TSI][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2066090	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2114501	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2172874	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2433611	0.86[EUR][1000 genomes]
rs2453541	0.86[EUR][1000 genomes]
rs2461701	0.88[EUR][1000 genomes]
rs2461702	1.00[CEU][hapmap]
rs2467854	0.88[EUR][1000 genomes]
rs2467858	0.94[CEU][hapmap];0.91[EUR][1000 genomes]
rs2486272	0.83[EUR][1000 genomes]
rs2668747	0.94[CEU][hapmap]
rs28569043	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28679834	0.83[AMR][1000 genomes]
rs3759899	1.00[CEU][hapmap];0.83[MEX][hapmap];0.89[TSI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3809472	1.00[CEU][hapmap];0.83[MEX][hapmap];0.87[TSI][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4271549	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4395020	1.00[CEU][hapmap];0.83[MEX][hapmap];0.89[TSI][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4534782	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4572329	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4625670	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4627277	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4774577	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4774578	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4774579	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4774580	1.00[CEU][hapmap];0.83[MEX][hapmap];0.87[TSI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4775895	0.81[AMR][1000 genomes]
rs4775906	0.81[AMR][1000 genomes]
rs4775907	0.82[AMR][1000 genomes]
rs4775909	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4775911	1.00[CEU][hapmap];0.83[MEX][hapmap];0.85[TSI][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4775937	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55885762	0.82[AMR][1000 genomes]
rs56669689	0.82[AMR][1000 genomes]
rs56806728	0.82[AMR][1000 genomes]
rs60476496	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61365925	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61524473	0.83[AMR][1000 genomes]
rs66528868	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs66714503	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs66939267	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs67045941	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs67461176	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs67744121	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs67831559	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7163720	0.82[AMR][1000 genomes]
rs7164139	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7164602	1.00[CEU][hapmap];0.83[MEX][hapmap];0.89[TSI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7167900	0.82[AMR][1000 genomes]
rs7169587	0.82[AMR][1000 genomes]
rs7171163	0.81[AMR][1000 genomes]
rs7171577	1.00[CEU][hapmap];0.81[AMR][1000 genomes]
rs7179743	0.82[AMR][1000 genomes]
rs7181167	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7182300	0.82[AMR][1000 genomes]
rs7182723	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7183946	0.82[AMR][1000 genomes]
rs72623915	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7402632	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7402650	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7494956	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8032904	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8038342	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8042786	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9783731	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9788780	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9806699	0.82[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916374	chr15:45058112-45769052	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv932147	chr15:45319178-45872076	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv869616	chr15:45401411-45736209	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv569315	chr15:45446156-45772448	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
5	nsv469721	chr15:45608881-45788002	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
6	nsv482380	chr15:45608881-45788002	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

mRNA abundance (count:15)

SNP	Gene	Cis/trans	Tissue	Source
rs1974981	CTD-2651B20.3	cis	Artery Tibial	GTEx
rs1974981	SPATA5L1	cis	lung	GTEx
rs1974981	CTD-2651B20.3	cis	lung	GTEx
rs1974981	SPATA5L1	Cis_1M	lymphoblastoid	RTeQTL
rs1974981	CTD-2651B20.3	cis	Muscle Skeletal	GTEx
rs1974981	SPATA5L1	cis	Esophagus Muscularis	GTEx
rs1974981	SPATA5L1	cis	Thyroid	GTEx
rs1974981	SPATA5L1	cis	Nerve Tibial	GTEx
rs1974981	CTD-2651B20.3	cis	Esophagus Muscularis	GTEx
rs1974981	SPATA5L1	cis	Whole Blood	GTEx
rs1974981	CTD-2651B20.4	cis	Nerve Tibial	GTEx
rs1974981	CTD-2651B20.3	cis	Thyroid	GTEx
rs1974981	CTD-2651B20.3	cis	Nerve Tibial	GTEx
rs1974981	GATM	cis	Muscle Skeletal	GTEx
rs1974981	CTD-2651B20.3	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45724000-45736800	Weak transcription	Gastric	stomach
2	chr15:45724000-45737200	Weak transcription	Pancreas	Pancrea
3	chr15:45724800-45729400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr15:45727400-45729200	Enhancers	Fetal Intestine Large	intestine
5	chr15:45727800-45730800	Weak transcription	Fetal Intestine Small	intestine
6	chr15:45728400-45730800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr15:45728400-45731000	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr15:45728400-45731800	Weak transcription	Stomach Mucosa	stomach
9	chr15:45728600-45729200	Weak transcription	Colonic Mucosa	Colon
10	chr15:45729000-45729600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum

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