Variant report

Variant	rs503734
Chromosome Location	chr3:101023748-101023749
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10936607	0.89[ASN][1000 genomes]
rs12491955	0.81[ASN][1000 genomes]
rs13087404	0.89[ASN][1000 genomes]
rs13089177	0.87[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13089552	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13320918	0.86[ASN][1000 genomes]
rs1471738	0.87[TSI][hapmap]
rs2141180	0.83[ASW][hapmap];0.84[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.87[MKK][hapmap];0.90[YRI][hapmap];0.86[ASN][1000 genomes]
rs2250611	0.89[ASN][1000 genomes]
rs2317699	0.89[ASN][1000 genomes]
rs2317700	0.88[ASN][1000 genomes]
rs2317745	0.89[ASN][1000 genomes]
rs2317749	0.83[ASW][hapmap];0.84[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.87[MKK][hapmap];0.90[YRI][hapmap];0.89[ASN][1000 genomes]
rs2317751	0.89[ASN][1000 genomes]
rs2433031	0.84[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2553416	0.84[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.89[ASN][1000 genomes]
rs2553424	0.88[ASN][1000 genomes]
rs2553427	0.83[ASW][hapmap];0.84[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.87[MKK][hapmap];0.90[YRI][hapmap];0.89[ASN][1000 genomes]
rs2553430	0.84[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.89[ASN][1000 genomes]
rs2682383	0.84[ASN][1000 genomes]
rs2682384	0.89[ASN][1000 genomes]
rs2682386	0.83[ASW][hapmap];0.84[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.87[MKK][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2682390	0.89[ASN][1000 genomes]
rs2682391	0.89[ASN][1000 genomes]
rs348866	1.00[ASW][hapmap];0.96[CEU][hapmap];0.89[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs348869	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4683899	0.89[ASN][1000 genomes]
rs4683900	0.83[ASW][hapmap];0.89[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.84[MKK][hapmap];0.90[YRI][hapmap];0.89[ASN][1000 genomes]
rs4683917	0.82[ASN][1000 genomes]
rs473702	0.83[ASW][hapmap];0.84[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.87[MKK][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs487623	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs497953	0.83[ASW][hapmap];0.89[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.87[MKK][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs508537	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs520558	0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs533852	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs551442	0.84[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs56075912	0.89[ASN][1000 genomes]
rs62280667	0.89[ASN][1000 genomes]
rs6441602	0.89[ASN][1000 genomes]
rs6441608	0.83[ASW][hapmap];0.84[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.87[MKK][hapmap];0.90[YRI][hapmap];0.86[ASN][1000 genomes]
rs6771561	0.82[ASN][1000 genomes]
rs6773536	0.89[ASN][1000 genomes]
rs9816469	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9843186	0.86[ASN][1000 genomes]
rs9859077	0.84[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9870114	0.87[CEU][hapmap];0.89[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931417	chr3:100547347-101183844	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv877222	chr3:100715576-101038297	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv3439278	chr3:100936513-101162102	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv508232	chr3:101004851-101028209	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1003475	chr3:101005238-101120030	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs503734	SENP7	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:101019400-101026200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:101020400-101026800	Weak transcription	Primary T cells from cord blood	blood
3	chr3:101022600-101026600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr3:101022800-101028800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr3:101023600-101026800	Weak transcription	Fetal Stomach	stomach

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