Variant report

Variant	rs2193077
Chromosome Location	chr2:206239821-206239822
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 186 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:185)

rs_ID	r²[population]
rs10199654	0.89[EUR][1000 genomes]
rs10490290	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10490292	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10490293	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10490295	0.93[EUR][1000 genomes]
rs10804147	0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs10804148	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10932102	0.89[EUR][1000 genomes]
rs10932104	0.83[ASN][1000 genomes]
rs10932105	0.84[ASN][1000 genomes]
rs10932106	0.84[ASN][1000 genomes]
rs10932107	0.84[ASN][1000 genomes]
rs10932108	0.84[ASN][1000 genomes]
rs10932109	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1113314	0.86[EUR][1000 genomes]
rs11676344	0.82[ASN][1000 genomes]
rs11676518	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11676519	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11676529	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11677457	0.84[ASN][1000 genomes]
rs11686270	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11690439	0.90[EUR][1000 genomes]
rs11690480	0.84[ASN][1000 genomes]
rs11690561	0.84[ASN][1000 genomes]
rs11691342	0.81[ASN][1000 genomes]
rs11691345	0.86[ASN][1000 genomes]
rs11692923	0.87[EUR][1000 genomes]
rs11695465	0.84[ASN][1000 genomes]
rs1207411	0.83[ASN][1000 genomes]
rs1207415	0.84[ASN][1000 genomes]
rs1207421	0.82[ASN][1000 genomes]
rs1207426	0.84[ASN][1000 genomes]
rs1207428	0.81[ASN][1000 genomes]
rs1207429	0.82[ASN][1000 genomes]
rs1207430	0.84[ASN][1000 genomes]
rs1207431	0.84[ASN][1000 genomes]
rs1207432	0.84[ASN][1000 genomes]
rs1207433	0.84[ASN][1000 genomes]
rs1207434	0.89[ASN][1000 genomes]
rs1207435	0.91[ASN][1000 genomes]
rs1207436	0.91[ASN][1000 genomes]
rs1207437	0.91[ASN][1000 genomes]
rs1207438	0.91[ASN][1000 genomes]
rs1207440	0.84[ASN][1000 genomes]
rs1207441	0.84[ASN][1000 genomes]
rs1211319	0.94[CHB][hapmap];0.87[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs12373584	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12373610	0.84[ASN][1000 genomes]
rs12464688	0.84[ASN][1000 genomes]
rs12464755	0.93[EUR][1000 genomes]
rs12468755	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12468794	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12468975	0.84[ASN][1000 genomes]
rs12470003	0.84[ASN][1000 genomes]
rs12470079	0.84[ASN][1000 genomes]
rs12470434	0.83[ASN][1000 genomes]
rs12472752	0.81[ASN][1000 genomes]
rs12472815	0.81[ASN][1000 genomes]
rs12476682	0.84[ASN][1000 genomes]
rs12615597	0.88[EUR][1000 genomes]
rs12622101	0.89[EUR][1000 genomes]
rs12623757	0.84[ASN][1000 genomes]
rs12989507	0.84[ASN][1000 genomes]
rs12995657	0.83[ASN][1000 genomes]
rs13000324	0.84[ASN][1000 genomes]
rs13004164	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13004568	0.89[EUR][1000 genomes]
rs13009974	0.84[ASN][1000 genomes]
rs13011880	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13011981	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13015412	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13017922	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13021602	0.83[ASN][1000 genomes]
rs13022810	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13024741	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13024952	0.91[ASN][1000 genomes]
rs13028215	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13033820	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1398053	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1398054	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1511873	0.84[ASN][1000 genomes]
rs1511874	0.84[ASN][1000 genomes]
rs1540365	0.88[EUR][1000 genomes]
rs1540366	0.89[EUR][1000 genomes]
rs1540367	0.88[EUR][1000 genomes]
rs1540368	0.89[EUR][1000 genomes]
rs1606237	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1606238	0.84[ASN][1000 genomes]
rs1606239	0.84[ASN][1000 genomes]
rs17201041	0.84[ASN][1000 genomes]
rs1849226	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1861508	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1861509	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1861510	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs1861513	0.98[ASN][1000 genomes]
rs1861514	0.84[ASN][1000 genomes]
rs1877338	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1877339	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1912845	0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs1921805	0.89[EUR][1000 genomes]
rs1990667	0.95[ASN][1000 genomes]
rs2041877	0.84[ASN][1000 genomes]
rs2080418	0.82[GIH][hapmap];0.95[JPT][hapmap];0.81[MEX][hapmap];0.86[TSI][hapmap];0.84[ASN][1000 genomes]
rs2080419	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2137176	0.92[ASN][1000 genomes]
rs2160455	0.83[ASN][1000 genomes]
rs2216176	0.92[ASN][1000 genomes]
rs2247282	0.89[ASN][1000 genomes]
rs2251539	0.84[ASN][1000 genomes]
rs2336416	0.88[EUR][1000 genomes]
rs2336418	0.80[EUR][1000 genomes]
rs2336419	0.84[EUR][1000 genomes]
rs2336420	0.84[ASN][1000 genomes]
rs2541149	0.81[ASN][1000 genomes]
rs2541150	0.84[ASN][1000 genomes]
rs2541151	0.91[ASN][1000 genomes]
rs2541152	0.91[ASN][1000 genomes]
rs2541153	0.91[ASN][1000 genomes]
rs2541154	0.91[ASN][1000 genomes]
rs2541160	0.98[ASN][1000 genomes]
rs2668144	0.98[ASN][1000 genomes]
rs2668145	0.98[ASN][1000 genomes]
rs2668146	0.98[ASN][1000 genomes]
rs2668148	0.97[ASN][1000 genomes]
rs2704643	0.84[ASN][1000 genomes]
rs2704644	0.91[ASN][1000 genomes]
rs2878692	0.84[ASN][1000 genomes]
rs34226321	0.88[EUR][1000 genomes]
rs34332011	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34486316	0.84[ASN][1000 genomes]
rs35337631	0.84[ASN][1000 genomes]
rs35550118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35655292	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3843339	0.83[ASN][1000 genomes]
rs3845806	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3856509	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3928642	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4505506	0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs4595957	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4673318	0.88[EUR][1000 genomes]
rs4673319	0.83[ASN][1000 genomes]
rs4673320	0.84[ASN][1000 genomes]
rs4673323	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4673324	0.84[ASN][1000 genomes]
rs4673325	0.82[ASN][1000 genomes]
rs4673326	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4673327	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4673328	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4673329	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4673330	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4675508	0.88[EUR][1000 genomes]
rs4675511	0.89[EUR][1000 genomes]
rs4675512	0.89[ASN][1000 genomes]
rs4675513	0.90[EUR][1000 genomes]
rs4675515	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4675519	0.84[ASN][1000 genomes]
rs55850246	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62171496	0.91[ASN][1000 genomes]
rs62171506	0.84[ASN][1000 genomes]
rs66583439	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6740963	0.84[ASN][1000 genomes]
rs6755865	0.83[ASN][1000 genomes]
rs6756234	0.80[ASN][1000 genomes]
rs6761373	0.83[ASN][1000 genomes]
rs7594732	0.89[EUR][1000 genomes]
rs849189	0.91[ASN][1000 genomes]
rs849193	0.89[ASN][1000 genomes]
rs849194	0.91[ASN][1000 genomes]
rs849198	0.98[ASN][1000 genomes]
rs849200	0.98[ASN][1000 genomes]
rs849207	0.98[ASN][1000 genomes]
rs849208	0.97[ASN][1000 genomes]
rs849216	0.93[ASN][1000 genomes]
rs849218	0.91[ASN][1000 genomes]
rs849219	0.91[ASN][1000 genomes]
rs849220	0.92[ASN][1000 genomes]
rs849221	0.91[ASN][1000 genomes]
rs849222	0.91[ASN][1000 genomes]
rs849223	0.91[ASN][1000 genomes]
rs849224	0.86[ASN][1000 genomes]
rs849250	0.93[ASN][1000 genomes]
rs907462	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs964896	0.84[ASN][1000 genomes]
rs964897	0.84[ASN][1000 genomes]
rs979187	0.84[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012780	chr2:206124954-206546271	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2193077	ALS2CR12	cis	parietal	SCAN
rs2193077	PARD3B	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:206197600-206240600	Weak transcription	Aorta	Aorta
2	chr2:206237200-206240000	Weak transcription	NHDF-Ad	bronchial

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