Variant report

Variant	rs7614482
Chromosome Location	chr3:51029164-51029165
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 169 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:166)

rs_ID	r²[population]
rs10510754	0.82[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10865962	0.94[CEU][hapmap]
rs11130263	0.94[CEU][hapmap]
rs11130267	0.94[CEU][hapmap];0.80[EUR][1000 genomes]
rs11130280	0.95[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap]
rs11715556	0.94[CEU][hapmap]
rs11917538	0.82[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11919932	0.94[CEU][hapmap]
rs11921011	0.94[CEU][hapmap]
rs11928733	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12487821	0.82[CHD][hapmap]
rs12488948	0.82[CHD][hapmap]
rs12491206	0.81[CHD][hapmap]
rs12494165	0.94[CEU][hapmap]
rs12496621	0.82[CHD][hapmap]
rs12639243	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13061003	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs13062018	0.94[CEU][hapmap]
rs13064199	0.94[CEU][hapmap]
rs13065995	0.94[CEU][hapmap]
rs13069365	0.82[CEU][hapmap]
rs13075377	0.94[CEU][hapmap]
rs13079136	0.94[CEU][hapmap]
rs13079565	0.94[CEU][hapmap]
rs13080170	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs13085827	0.94[CEU][hapmap]
rs13086922	0.94[CEU][hapmap]
rs13088434	0.94[CEU][hapmap]
rs13093289	0.94[CEU][hapmap]
rs13093798	0.94[CEU][hapmap]
rs13324500	0.94[CEU][hapmap]
rs1379875	0.94[CEU][hapmap]
rs1458385	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1471177	0.94[CEU][hapmap]
rs1531271	0.94[CEU][hapmap]
rs1598926	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17660513	0.92[CEU][hapmap]
rs1947607	0.94[CEU][hapmap]
rs1966920	0.94[CEU][hapmap]
rs2045510	0.93[CEU][hapmap]
rs2045511	0.94[CEU][hapmap]
rs2061388	0.94[CEU][hapmap]
rs2085580	0.94[CEU][hapmap]
rs2085582	0.93[CEU][hapmap]
rs2168863	0.94[CEU][hapmap]
rs2219431	0.94[CEU][hapmap]
rs2219432	0.94[CEU][hapmap]
rs2219433	0.94[CEU][hapmap]
rs2355350	0.81[EUR][1000 genomes]
rs2355697	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2355700	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2355702	0.94[CEU][hapmap]
rs2609020	0.94[CEU][hapmap]
rs2609022	0.94[CEU][hapmap]
rs2609031	0.94[CEU][hapmap]
rs2609037	0.94[CEU][hapmap]
rs2675792	0.94[CEU][hapmap]
rs2675830	0.94[CEU][hapmap]
rs2675832	0.94[CEU][hapmap]
rs2675834	0.94[CEU][hapmap]
rs2675835	0.94[CEU][hapmap]
rs2675836	0.94[CEU][hapmap]
rs2675837	0.94[CEU][hapmap]
rs34628582	0.94[CEU][hapmap]
rs4078296	0.81[CHD][hapmap]
rs4132022	0.87[CEU][hapmap]
rs4244696	0.94[CEU][hapmap]
rs4244704	0.94[CEU][hapmap]
rs4263323	0.94[CEU][hapmap]
rs4267675	0.94[CEU][hapmap]
rs4286453	0.94[CEU][hapmap]
rs4309763	0.94[CEU][hapmap]
rs4323036	0.82[CHD][hapmap]
rs4346541	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4346542	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4356848	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap]
rs4373098	0.94[CEU][hapmap]
rs4377512	0.94[CEU][hapmap]
rs4438692	0.94[CEU][hapmap]
rs4443210	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap]
rs4446244	0.94[CEU][hapmap]
rs4447760	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4475072	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4478114	0.94[CEU][hapmap]
rs4488874	0.94[CEU][hapmap]
rs4505743	0.94[CEU][hapmap]
rs4511931	0.94[CEU][hapmap]
rs4511933	0.94[CEU][hapmap]
rs4530518	0.92[CEU][hapmap]
rs4530566	0.94[CEU][hapmap]
rs4555554	0.93[CEU][hapmap]
rs4560329	0.95[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];0.90[TSI][hapmap];0.83[YRI][hapmap]
rs4566574	0.94[CEU][hapmap]
rs4572801	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4582086	0.94[CEU][hapmap]
rs4586853	0.94[CEU][hapmap]
rs4589968	0.94[CEU][hapmap]
rs4615113	0.94[CEU][hapmap]
rs4927960	0.94[CEU][hapmap]
rs4927961	0.82[CHD][hapmap]
rs4927970	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap]
rs4927978	0.94[CEU][hapmap]
rs4927983	0.94[CEU][hapmap]
rs61108141	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6445600	0.94[CEU][hapmap]
rs6445717	0.94[CEU][hapmap]
rs6445750	0.94[CEU][hapmap]
rs6445779	0.94[CEU][hapmap]
rs6445802	0.91[CEU][hapmap]
rs6446011	0.94[CEU][hapmap]
rs6446118	0.94[CEU][hapmap]
rs6446167	0.94[CEU][hapmap]
rs6446168	0.94[CEU][hapmap]
rs6446220	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6446222	0.82[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6446243	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6446245	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6768601	0.94[CEU][hapmap]
rs6769733	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6771085	0.94[CEU][hapmap]
rs6772197	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap]
rs6787773	0.94[CEU][hapmap]
rs6787805	0.95[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap];0.80[YRI][hapmap]
rs6793613	0.94[CEU][hapmap]
rs6793648	0.94[CEU][hapmap]
rs6795272	0.94[CEU][hapmap]
rs6795573	0.82[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6810241	0.94[CEU][hapmap]
rs7428086	0.94[CEU][hapmap]
rs7429035	0.94[CEU][hapmap]
rs7433217	0.87[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7611873	0.94[CEU][hapmap]
rs7614171	0.94[CEU][hapmap]
rs7614881	0.94[CEU][hapmap]
rs7615291	0.94[CEU][hapmap]
rs7616183	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7621650	0.81[EUR][1000 genomes]
rs7627266	0.82[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7629420	0.94[CEU][hapmap]
rs7629433	0.94[CEU][hapmap]
rs7638082	0.82[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7638732	0.94[CEU][hapmap]
rs7639301	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7639828	0.81[EUR][1000 genomes]
rs7640263	0.93[CEU][hapmap]
rs7642158	0.94[CEU][hapmap]
rs7652655	0.94[CEU][hapmap]
rs7652818	0.94[CEU][hapmap]
rs7653451	0.94[CEU][hapmap]
rs9681865	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9682672	0.94[CEU][hapmap]
rs9713241	0.93[CEU][hapmap]
rs9758600	0.91[CEU][hapmap]
rs9823942	0.94[CEU][hapmap]
rs9828200	0.94[CEU][hapmap]
rs9832952	0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9837334	1.00[CEU][hapmap]
rs9838433	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9850021	0.94[CEU][hapmap]
rs9857727	0.94[CEU][hapmap]
rs9859692	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9865532	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap]
rs9868870	0.94[CEU][hapmap]
rs9869945	0.82[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9875961	0.82[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9877272	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491647	chr3:50856276-51245158	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1004881	chr3:50900793-51032918	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv536568	chr3:50900793-51032918	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7614482	TNNC1	cis	cerebellum	SCAN
rs7614482	NBEAL2	cis	cerebellum	SCAN
rs7614482	HEMK1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:51027000-51030600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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