Variant report

Variant	rs1450135
Chromosome Location	chr8:51202085-51202086
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 191 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:188)

rs_ID	r²[population]
rs10086867	0.92[CEU][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10092399	0.81[CHD][hapmap]
rs10093604	0.93[JPT][hapmap]
rs10094935	0.89[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10096871	0.86[JPT][hapmap]
rs10098057	0.81[CHD][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap]
rs10103047	0.81[CEU][hapmap];0.92[CHB][hapmap];0.89[CHD][hapmap]
rs10108468	0.92[CHD][hapmap];0.86[ASN][1000 genomes]
rs10109835	0.88[JPT][hapmap]
rs10504098	0.85[CHD][hapmap];0.93[JPT][hapmap]
rs10504099	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[ASN][1000 genomes]
rs10808817	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10957813	0.93[JPT][hapmap]
rs10957814	0.81[CHD][hapmap];0.93[JPT][hapmap]
rs10957828	0.93[JPT][hapmap];1.00[YRI][hapmap]
rs10957853	0.84[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1160764	0.84[CEU][hapmap];0.92[CHB][hapmap];0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1160795	0.84[CEU][hapmap];0.92[CHB][hapmap];0.85[CHD][hapmap];0.86[MEX][hapmap];0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11778998	0.93[JPT][hapmap]
rs11784464	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11784719	0.92[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11986160	0.93[JPT][hapmap]
rs11991940	0.93[JPT][hapmap]
rs12056425	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[ASN][1000 genomes]
rs12056426	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[ASN][1000 genomes]
rs12541382	0.95[CEU][hapmap]
rs12541772	0.92[CHB][hapmap]
rs12542067	0.81[CHD][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap]
rs12544473	0.92[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12544631	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12544986	0.90[JPT][hapmap]
rs12545365	0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs12545915	0.85[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs12545927	0.92[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap]
rs12677522	0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs12677964	0.82[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs12678703	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12679317	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs12679356	0.85[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs12680748	0.92[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12681918	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13248969	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs13249415	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs13251587	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs13251725	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs13252320	0.83[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs13253758	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs13260021	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs13260265	0.81[CHD][hapmap];0.93[JPT][hapmap]
rs13260288	0.84[ASW][hapmap];0.92[CEU][hapmap];0.92[CHB][hapmap];0.89[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.87[MEX][hapmap];0.89[MKK][hapmap];1.00[YRI][hapmap]
rs13275607	0.85[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap]
rs13278343	0.91[JPT][hapmap]
rs13282956	0.84[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs13340639	0.91[JPT][hapmap];1.00[YRI][hapmap]
rs1349316	0.85[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap]
rs1349317	1.00[JPT][hapmap]
rs1375942	0.82[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs1375944	0.95[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs1375945	0.92[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1375947	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1375948	0.92[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap]
rs1380789	0.92[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap]
rs1380790	0.88[CEU][hapmap];0.83[CHB][hapmap];0.93[JPT][hapmap]
rs1380791	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs1380792	0.96[CEU][hapmap];0.92[CHB][hapmap];0.92[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.82[TSI][hapmap]
rs1450124	0.81[CEU][hapmap];0.92[CHB][hapmap];0.89[CHD][hapmap];0.86[MEX][hapmap]
rs1450127	0.81[CHD][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap]
rs1450132	0.92[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1460437	0.81[CEU][hapmap];0.92[CHB][hapmap]
rs1597426	0.89[CHD][hapmap];1.00[JPT][hapmap]
rs1597427	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1597428	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1597429	0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1597430	0.85[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[YRI][hapmap];0.88[ASN][1000 genomes]
rs1597431	0.84[CHB][hapmap];1.00[YRI][hapmap];0.88[ASN][1000 genomes]
rs16914346	0.81[CHD][hapmap];0.93[JPT][hapmap]
rs16914781	0.92[CEU][hapmap];0.82[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs17770910	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1824462	0.96[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap]
rs1868638	0.92[CEU][hapmap];0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1868639	0.92[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1901050	0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1901055	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1901056	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1903311	0.86[JPT][hapmap]
rs203612	0.85[CHD][hapmap];0.93[JPT][hapmap]
rs203619	0.84[YRI][hapmap]
rs203624	0.93[JPT][hapmap]
rs203626	0.93[JPT][hapmap];1.00[YRI][hapmap]
rs203632	0.85[CHD][hapmap];0.93[JPT][hapmap]
rs203908	0.93[JPT][hapmap]
rs2084590	0.93[JPT][hapmap];1.00[YRI][hapmap]
rs2167157	0.92[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2219574	0.84[CEU][hapmap];0.85[CHB][hapmap]
rs2385812	0.93[JPT][hapmap]
rs2840054	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2923059	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2923062	0.82[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2957600	0.92[CEU][hapmap];0.82[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2957601	0.82[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs34651805	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs34908431	0.84[ASN][1000 genomes]
rs3919764	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4147344	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs420489	0.93[JPT][hapmap]
rs4292700	0.85[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4330704	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4364645	0.80[CEU][hapmap];0.82[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap]
rs4398931	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4448284	0.85[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[YRI][hapmap];0.88[ASN][1000 genomes]
rs4529480	0.80[CEU][hapmap];0.82[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap]
rs4543555	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4577969	0.85[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap]
rs4618709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4633068	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4639524	1.00[JPT][hapmap]
rs4873128	0.81[CHD][hapmap];0.93[JPT][hapmap]
rs4873129	0.81[CHD][hapmap];0.93[JPT][hapmap]
rs4873132	0.85[JPT][hapmap];1.00[YRI][hapmap]
rs4873133	0.93[JPT][hapmap];1.00[YRI][hapmap]
rs4873134	0.93[JPT][hapmap];1.00[YRI][hapmap]
rs4873135	0.81[CHD][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap]
rs4873137	0.93[JPT][hapmap];1.00[YRI][hapmap]
rs4873141	0.81[CHD][hapmap]
rs4873142	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4873143	0.84[CEU][hapmap];0.92[CHB][hapmap];0.89[CHD][hapmap];0.86[MEX][hapmap];0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4873405	0.86[JPT][hapmap]
rs4873406	0.86[JPT][hapmap]
rs4873408	0.81[CHD][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap]
rs4873411	0.93[JPT][hapmap];1.00[YRI][hapmap]
rs4873413	0.93[JPT][hapmap]
rs4873415	0.93[JPT][hapmap]
rs4873417	0.93[JPT][hapmap];1.00[YRI][hapmap]
rs4873418	0.93[JPT][hapmap]
rs4873419	0.93[JPT][hapmap]
rs4873420	0.85[CHD][hapmap];0.93[JPT][hapmap]
rs4873428	0.81[CHD][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap]
rs4873431	0.81[CHD][hapmap];0.93[JPT][hapmap]
rs4873433	0.81[CHD][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap]
rs4873439	0.81[CHD][hapmap]
rs4873442	1.00[JPT][hapmap]
rs4873447	0.92[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap]
rs4873451	0.92[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4873452	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56725	0.86[JPT][hapmap]
rs62515888	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6981805	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6983498	0.81[CHD][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap]
rs6986896	0.93[JPT][hapmap];1.00[YRI][hapmap]
rs6988843	0.81[CHD][hapmap];0.93[JPT][hapmap]
rs6989084	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6990514	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6991753	0.93[JPT][hapmap];1.00[YRI][hapmap]
rs6994415	0.83[ASN][1000 genomes]
rs6995334	0.80[CEU][hapmap];0.93[JPT][hapmap]
rs6999627	0.85[CHD][hapmap];1.00[JPT][hapmap]
rs6999722	0.86[JPT][hapmap];1.00[YRI][hapmap]
rs6999870	0.93[JPT][hapmap];1.00[YRI][hapmap]
rs7000325	0.86[ASN][1000 genomes]
rs7001686	0.93[JPT][hapmap];1.00[YRI][hapmap]
rs7002235	0.81[CHD][hapmap];0.93[JPT][hapmap]
rs7003725	0.84[CEU][hapmap];0.92[CHB][hapmap];0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7004088	0.93[JPT][hapmap];1.00[YRI][hapmap]
rs7005973	0.84[YRI][hapmap]
rs7013247	0.86[JPT][hapmap];1.00[YRI][hapmap]
rs7013995	0.85[JPT][hapmap]
rs7016161	0.81[CHD][hapmap];0.93[JPT][hapmap]
rs7017642	1.00[JPT][hapmap]
rs7018082	0.93[JPT][hapmap];1.00[YRI][hapmap]
rs721441	0.86[JPT][hapmap]
rs7464491	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[ASN][1000 genomes]
rs7821189	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7822367	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7822550	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7825063	0.93[JPT][hapmap];1.00[YRI][hapmap]
rs7834452	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7835144	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7845433	0.80[ASN][1000 genomes]
rs870754	0.93[JPT][hapmap]
rs884561	0.93[JPT][hapmap]
rs898520	0.81[CHD][hapmap];0.93[JPT][hapmap]
rs9298278	0.81[CHD][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap]
rs9298279	0.85[CHD][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap]
rs968944	0.92[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap]
rs968945	0.92[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap]
rs968947	0.92[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs983055	0.80[CEU][hapmap];0.93[JPT][hapmap]
rs987356	0.93[JPT][hapmap]

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	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
2	nsv948436	chr8:51115028-51917504	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv470212	chr8:51176635-51227506	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1450135	SNTG1	cis	cerebellum	SCAN
rs1450135	EFCAB1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51200200-51202600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:51201800-51202800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:51202000-51202200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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