Variant report

Variant	rs7605319
Chromosome Location	chr2:63423495-63423496
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 198 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:191)

rs_ID	r²[population]
rs10169209	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs10169292	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs10169579	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10173637	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs10182596	1.00[CHB][hapmap]
rs10203263	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10207356	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs10209822	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs11125957	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs11125965	0.86[ASN][1000 genomes]
rs11675647	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs11684108	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs11685910	0.86[ASN][1000 genomes]
rs11686044	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs11691166	0.86[ASN][1000 genomes]
rs11691357	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs11691718	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs12151606	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs12618974	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs12623431	0.86[ASN][1000 genomes]
rs12713476	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs12713477	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs12713478	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs12994711	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs13011799	1.00[CHB][hapmap]
rs13020171	0.86[ASN][1000 genomes]
rs13387839	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13411657	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13417792	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13422328	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13427868	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13431765	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1400686	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs1400687	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs1400688	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs1517401	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs1517402	0.86[ASN][1000 genomes]
rs1517404	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs1517405	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs1517409	1.00[CHB][hapmap]
rs1589092	0.86[ASN][1000 genomes]
rs1607203	1.00[CHB][hapmap];0.87[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs1607204	0.86[ASN][1000 genomes]
rs1607205	1.00[CHB][hapmap];0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs1607206	0.86[ASN][1000 genomes]
rs17348134	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17408652	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17408750	1.00[YRI][hapmap]
rs17408841	0.92[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17432684	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17432775	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1850984	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2030188	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs2030189	0.86[ASN][1000 genomes]
rs2090478	0.86[ASN][1000 genomes]
rs2090479	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs2176417	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs2176418	1.00[CHB][hapmap]
rs2263636	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs2292794	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs2292795	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs2421862	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2421881	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs2421883	0.86[ASN][1000 genomes]
rs2421884	0.86[ASN][1000 genomes]
rs2421886	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs2421887	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs2464042	0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2677436	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs2677437	0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2677438	1.00[CHB][hapmap];0.87[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2677439	1.00[CHB][hapmap]
rs2677442	0.86[ASN][1000 genomes]
rs2699388	1.00[CHB][hapmap];0.87[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2699389	1.00[CHB][hapmap];0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2699390	1.00[CHB][hapmap];0.87[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2699391	1.00[CHB][hapmap];0.87[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2699399	0.86[ASN][1000 genomes]
rs2901580	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs2945032	1.00[CHB][hapmap];0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2951185	0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2951186	0.83[AFR][1000 genomes]
rs2951192	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs4313961	1.00[CHB][hapmap]
rs4353635	0.86[ASN][1000 genomes]
rs4416201	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs4428008	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs4429457	0.86[ASN][1000 genomes]
rs4560098	1.00[CHB][hapmap]
rs4578846	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs4611627	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs4613259	0.86[ASN][1000 genomes]
rs4671468	0.86[ASN][1000 genomes]
rs4671470	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs4671471	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs4671472	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs4671473	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs4671474	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs4671475	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs4671476	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs4671479	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs4671480	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs4671481	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs4671482	0.86[ASN][1000 genomes]
rs4671483	0.86[ASN][1000 genomes]
rs4671484	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs4671485	0.86[ASN][1000 genomes]
rs4671487	0.86[ASN][1000 genomes]
rs4671488	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs4671494	1.00[CHB][hapmap]
rs58483312	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62177761	1.00[ASN][1000 genomes]
rs62177762	1.00[ASN][1000 genomes]
rs62177774	0.96[ASN][1000 genomes]
rs62177782	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62177783	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62177787	0.86[ASN][1000 genomes]
rs62177789	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62177790	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62177791	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62177793	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62177795	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62177797	0.80[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs62177820	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62177821	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62177824	0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs62180269	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62180275	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62180276	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62180308	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62180310	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62180312	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62180314	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62180316	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62180317	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62180320	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62180322	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62180323	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62180324	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62180325	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6545984	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs6545985	0.86[ASN][1000 genomes]
rs6545986	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs6545989	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs6545991	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs6545997	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs6704562	0.86[ASN][1000 genomes]
rs6705322	0.82[ASN][1000 genomes]
rs6705776	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs6706180	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs6706424	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs6708627	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs6708847	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs6709115	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs6713500	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs6714298	0.86[ASN][1000 genomes]
rs6717060	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs6718609	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6724044	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs6725694	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs6728844	0.86[ASN][1000 genomes]
rs6734468	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs6736788	0.86[ASN][1000 genomes]
rs6737820	0.86[ASN][1000 genomes]
rs6741817	1.00[CHB][hapmap]
rs6744720	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs6748030	1.00[CHB][hapmap]
rs6757463	0.86[ASN][1000 genomes]
rs6757487	0.86[ASN][1000 genomes]
rs7349440	0.87[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7558796	1.00[CHB][hapmap]
rs7558922	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs7559137	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs7561802	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs7567088	0.86[ASN][1000 genomes]
rs7568224	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7570649	0.86[ASN][1000 genomes]
rs7571697	1.00[CHB][hapmap]
rs7582434	0.86[ASN][1000 genomes]
rs7585664	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs7591562	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs7596446	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs7596580	0.86[ASN][1000 genomes]
rs7599736	1.00[CHB][hapmap]
rs7608966	0.86[ASN][1000 genomes]
rs908621	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs908622	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs932171	1.00[CHB][hapmap]
rs932172	1.00[CHB][hapmap]
rs970278	1.00[CHB][hapmap]
rs9967684	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3417336	chr2:62957866-63749654	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1006848	chr2:63061816-63631407	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv2756598	chr2:63085848-63491438	Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv3340700	chr2:63127412-63534998	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1004678	chr2:63230722-63562484	Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv470468	chr2:63374063-63449512	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv535768	chr2:63413596-63631407	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63416400-63435800	Weak transcription	Ovary	ovary
2	chr2:63416600-63433600	Weak transcription	Aorta	Aorta
3	chr2:63421400-63425600	Enhancers	HepG2	liver

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