Variant report

Variant	rs318903
Chromosome Location	chr8:50890197-50890198
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 126 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:111)

rs_ID	r²[population]
rs10095475	0.89[AMR][1000 genomes]
rs10107848	0.89[AMR][1000 genomes]
rs10112063	0.89[AMR][1000 genomes]
rs10112215	0.86[TSI][hapmap];0.82[EUR][1000 genomes]
rs1021202	1.00[MEX][hapmap];0.86[TSI][hapmap];0.81[EUR][1000 genomes]
rs10957739	0.86[TSI][hapmap];0.81[EUR][1000 genomes]
rs10957741	0.81[EUR][1000 genomes]
rs12541061	1.00[MEX][hapmap];0.82[TSI][hapmap];0.81[EUR][1000 genomes]
rs12541363	0.80[EUR][1000 genomes]
rs12546435	0.86[TSI][hapmap]
rs1352117	0.80[CEU][hapmap];0.84[GIH][hapmap];0.83[TSI][hapmap]
rs1385311	1.00[CEU][hapmap]
rs1386114	0.89[AMR][1000 genomes]
rs1484805	0.81[EUR][1000 genomes]
rs1484813	0.81[EUR][1000 genomes]
rs149936	0.82[AMR][1000 genomes]
rs149991	0.85[AMR][1000 genomes]
rs149993	0.82[AMR][1000 genomes]
rs167629	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs167630	1.00[CEU][hapmap]
rs167631	0.81[EUR][1000 genomes]
rs169435	0.82[AMR][1000 genomes]
rs172758	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs178543	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs182646	0.89[CEU][hapmap]
rs1905657	0.89[AMR][1000 genomes]
rs2015043	0.86[TSI][hapmap];0.80[EUR][1000 genomes]
rs203611	0.85[AMR][1000 genomes]
rs203615	0.82[AMR][1000 genomes]
rs203622	0.82[AMR][1000 genomes]
rs203625	0.80[AMR][1000 genomes]
rs203898	0.82[AMR][1000 genomes]
rs203926	0.90[GIH][hapmap];0.89[TSI][hapmap]
rs203927	0.86[TSI][hapmap];0.82[AMR][1000 genomes]
rs203929	0.82[AMR][1000 genomes]
rs203931	0.86[TSI][hapmap];0.82[AMR][1000 genomes]
rs203946	0.86[TSI][hapmap];0.82[AMR][1000 genomes]
rs203948	0.90[GIH][hapmap];0.89[TSI][hapmap];0.80[AMR][1000 genomes]
rs203950	0.82[AMR][1000 genomes]
rs203952	0.86[TSI][hapmap];0.82[AMR][1000 genomes]
rs203953	0.86[TSI][hapmap]
rs203957	0.89[AMR][1000 genomes]
rs203958	0.86[TSI][hapmap];0.89[AMR][1000 genomes]
rs203959	0.86[TSI][hapmap]
rs203961	0.89[AMR][1000 genomes]
rs203962	0.82[AMR][1000 genomes]
rs203963	0.89[AMR][1000 genomes]
rs2054742	0.89[AMR][1000 genomes]
rs2086888	0.86[TSI][hapmap];0.81[EUR][1000 genomes]
rs2129161	0.80[EUR][1000 genomes]
rs2129169	0.80[EUR][1000 genomes]
rs2200494	1.00[ASW][hapmap];0.89[CEU][hapmap];0.84[GIH][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap]
rs2220157	0.80[EUR][1000 genomes]
rs223081	0.80[CEU][hapmap]
rs2385698	0.81[EUR][1000 genomes]
rs2385700	0.80[EUR][1000 genomes]
rs2449957	0.80[CEU][hapmap]
rs2449958	0.89[CEU][hapmap]
rs2449963	0.86[TSI][hapmap]
rs2450288	1.00[CEU][hapmap]
rs2450291	0.86[CEU][hapmap];1.00[YRI][hapmap]
rs2628417	0.89[CEU][hapmap]
rs2630550	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs318860	0.89[CEU][hapmap];0.84[GIH][hapmap];0.86[TSI][hapmap]
rs318862	0.89[CEU][hapmap];1.00[YRI][hapmap]
rs318864	0.89[CEU][hapmap]
rs318870	0.89[CEU][hapmap]
rs318871	0.89[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs318872	0.80[CEU][hapmap]
rs318873	0.80[CEU][hapmap];0.84[GIH][hapmap];0.83[TSI][hapmap]
rs318875	0.80[CEU][hapmap]
rs318877	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs318884	0.89[CEU][hapmap];0.85[EUR][1000 genomes]
rs318885	0.89[CEU][hapmap];0.84[GIH][hapmap];0.86[TSI][hapmap];0.85[EUR][1000 genomes]
rs318888	0.89[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs318890	1.00[ASW][hapmap];0.89[CEU][hapmap];0.84[GIH][hapmap];1.00[LWK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs318893	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs318894	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs318902	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs318905	1.00[CEU][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs318906	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs318908	1.00[CEU][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs318910	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs318911	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs318912	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs318913	0.86[TSI][hapmap];0.81[EUR][1000 genomes]
rs318915	1.00[MEX][hapmap];0.86[TSI][hapmap];0.81[EUR][1000 genomes]
rs318918	1.00[MEX][hapmap];0.86[TSI][hapmap]
rs318923	0.81[EUR][1000 genomes]
rs365318	0.89[CEU][hapmap];0.84[GIH][hapmap];0.86[TSI][hapmap]
rs366526	0.89[CEU][hapmap]
rs380279	0.89[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs384406	0.89[CEU][hapmap]
rs391798	0.89[CEU][hapmap]
rs415276	0.80[CEU][hapmap];0.81[GIH][hapmap];0.83[TSI][hapmap]
rs417918	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6472722	0.89[CEU][hapmap]
rs6999728	0.86[TSI][hapmap]
rs7010915	0.86[TSI][hapmap];0.82[EUR][1000 genomes]
rs7014520	0.86[TSI][hapmap];0.81[EUR][1000 genomes]
rs7817941	0.89[AMR][1000 genomes]
rs7833019	0.81[EUR][1000 genomes]
rs7835615	0.89[AMR][1000 genomes]
rs923058	0.81[EUR][1000 genomes]
rs923059	0.90[GIH][hapmap]
rs931294	0.82[EUR][1000 genomes]
rs9643692	0.86[TSI][hapmap];0.81[EUR][1000 genomes]
rs967110	0.89[CEU][hapmap]
rs967116	0.89[CEU][hapmap];0.84[GIH][hapmap];0.86[TSI][hapmap]
rs971926	0.86[TSI][hapmap];0.80[EUR][1000 genomes]
rs993552	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3353749	chr8:50530807-51139242	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv916392	chr8:50827638-51395140	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1022115	chr8:50864995-50981944	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv611311	chr8:50865230-50980320	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv34788	chr8:50873247-50965438	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3479183	chr8:50873277-50965062	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1033098	chr8:50873293-50965692	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv2757272	chr8:50873293-50968942	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv2759613	chr8:50873293-51137995	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	esv3479184	chr8:50873317-50965027	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv3479185	chr8:50873317-50965027	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv3692982	chr8:50875494-50959622	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv1023258	chr8:50877934-50964286	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv818624	chr8:50882830-50945075	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
15	esv2758621	chr8:50886593-51137995	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs318903	SNTG1	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:50889600-50892000	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:50889800-50890800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr8:50890000-50890200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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