Variant report

Variant	rs12491955
Chromosome Location	chr3:101146597-101146598
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1019677	0.84[EUR][1000 genomes]
rs10936607	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10936642	0.86[EUR][1000 genomes]
rs10936664	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12496260	0.89[EUR][1000 genomes]
rs13087404	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13320918	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13322987	0.89[EUR][1000 genomes]
rs16843927	0.90[EUR][1000 genomes]
rs1918405	0.84[EUR][1000 genomes]
rs2141179	0.90[EUR][1000 genomes]
rs2141180	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2178036	0.86[EUR][1000 genomes]
rs2250611	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2317699	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2317700	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2317745	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2317749	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2317751	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2433031	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2553416	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2553424	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2553427	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2553430	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2682383	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2682384	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2682386	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2682390	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2682391	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28565548	0.84[EUR][1000 genomes]
rs34255148	0.89[EUR][1000 genomes]
rs3846091	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4287896	0.84[EUR][1000 genomes]
rs4456838	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4524254	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4683899	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4683900	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4683917	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4683918	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs473702	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs497953	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs503734	0.81[ASN][1000 genomes]
rs508537	0.82[EUR][1000 genomes]
rs520558	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs551442	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56075912	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62280667	0.90[ASN][1000 genomes]
rs6441602	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6441608	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6441610	0.90[EUR][1000 genomes]
rs6771561	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6772703	0.88[EUR][1000 genomes]
rs6773536	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7628681	0.84[EUR][1000 genomes]
rs7631506	0.89[EUR][1000 genomes]
rs7636475	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9814991	0.86[EUR][1000 genomes]
rs9843186	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9856435	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9859077	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9874188	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12491955	SENP7	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:101107200-101161200	Weak transcription	Aorta	Aorta
2	chr3:101129200-101160000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr3:101133600-101160600	Weak transcription	K562	blood
4	chr3:101141000-101185600	Weak transcription	Right Ventricle	heart
5	chr3:101141200-101160000	Weak transcription	Gastric	stomach
6	chr3:101143600-101160000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr3:101143800-101159800	Weak transcription	Pancreas	Pancrea
8	chr3:101144600-101160200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr3:101145000-101152000	Weak transcription	Primary T cells from cord blood	blood
10	chr3:101145000-101159800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr3:101145200-101159800	Weak transcription	Thymus	Thymus
12	chr3:101146000-101185600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr3:101146200-101159800	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr3:101146200-101160400	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr3:101146400-101151000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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